Molecular Update and Evolving Classification of Large B-Cell Lymphoma
Abstract
:Simple Summary
Abstract
1. Introduction
2. Diffuse Large-B-Cell Lymphoma, Not Otherwise Specified (Dlbcl-Nos)
3. High Grade B-Cell Lymphomas (Hgbl)
3.1. High Grade B-Cell Lymphoma with Myc and Bcl2 And/Or Bcl6 Rearrangement (Hgbl with Myc, Bcl2, And/Or Bcl6; Hgbl-Dh/Th)
3.2. High Grade B-Cell Lymphoma, Not Otherwise Specified (Hgbcl, Nos)
3.3. Burkitt Lymphoma (BL)
3.4. Burkitt-Like Lymphoma with 11q Aberration (Bll, 11q)
4. T-Cell/Histiocyte-Rich Large B Cell Lymphoma
5. Diffuse Large B-Cell Lymphoma at Specific Sites
5.1. Large B-Cell Lymphoma with Irf4 Rearrangement
5.2. Primary Mediastinal (Thymic) Large B-Cell Lymphoma
5.3. Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
5.4. Primary Diffuse Large B-Cell Lymphoma of the Central Nervous System
6. Large B Cell Lymphomas with Plasmacytic Differentiation
6.1. ALK-Positive Large B-Cell Lymphoma
6.2. Intravascular Large B-Cell Lymphoma
7. Conclusions
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
References
- Xie, Y.; Pittaluga, S.; Jaffe, E.S. The histological classification of diffuse large B-cell lymphomas. Semin. Hematol. 2015, 52, 57–66. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Swerdlow, S.H.; Campo, E.; Pileri, S.A.; Harris, N.L.; Stein, H.; Siebert, R.; Advani, R.; Ghielmini, M.; Salles, G.A.; Zelenetz, A.D.; et al. The 2016 revision of the World Health Organization classification of lymphoid neoplasms. Blood 2016, 127, 2375–2390. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Li, S.; Young, K.H.; Medeiros, L.J. Diffuse large B-cell lymphoma. Pathology 2018, 50, 74–87. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- SHCE, S. WHO Classification of Tumours and Haematopoietic and Lymphoid Tissues; Harris, N.L.P.S., Stein, H., Thiele, J., Vardiman, J.W., Eds.; IARC: Lyon, France, 2008. [Google Scholar]
- Martelli, M.; Ferreri, A.J.; Agostinelli, C.; Di Rocco, A.; Pfreundschuh, M.; Pileri, S.A. Diffuse large B-cell lymphoma. Crit. Rev. Oncol. Hematol. 2013, 87, 146–171. [Google Scholar] [CrossRef]
- Grimm, K.E.; O’Malley, D.P. Aggressive B cell lymphomas in the 2017 revised WHO classification of tumors of hematopoietic and lymphoid tissues. Ann. Diagn. Pathol. 2019, 38, 6–10. [Google Scholar] [CrossRef]
- Megahed, N.A.; Kohno, K.; Sakakibara, A.; Eladl, A.E.; Elsayed, A.A.; Wu, C.C.; Suzuki, Y.; Takahara, T.; Kato, S.; Nakamura, S.; et al. Anaplastic variant of diffuse large B-cell lymphoma: Reappraisal as a nodal disease with sinusoidal involvement. Pathol. Int. 2019, 69, 697–705. [Google Scholar] [CrossRef]
- Rosenwald, A.; Wright, G.; Chan, W.C.; Connors, J.M.; Campo, E.; Fisher, R.I.; Gascoyne, R.D.; Muller-Hermelink, H.K.; Smeland, E.B.; Giltnane, J.M.; et al. The use of molecular profiling to predict survival after chemotherapy for diffuse large-B-cell lymphoma. N. Engl. J. Med. 2002, 346, 1937–1947. [Google Scholar] [CrossRef] [PubMed]
- Alizadeh, A.A.; Eisen, M.B.; Davis, R.E.; Ma, C.; Lossos, I.S.; Rosenwald, A.; Boldrick, J.C.; Sabet, H.; Tran, T.; Yu, X.; et al. Distinct types of diffuse large B-cell lymphoma identified by gene expression profiling. Nature 2000, 403, 503–511. [Google Scholar] [CrossRef]
- Onaindia, A.; Medeiros, L.J.; Patel, K.P. Clinical utility of recently identified diagnostic, prognostic, and predictive molecular biomarkers in mature B-cell neoplasms. Mod. Pathol. 2017, 30, 1338–1366. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Dalla-Favera, R. Molecular genetics of aggressive B-cell lymphoma. Hematol. Oncol. 2017, 35 (Suppl. 1), 76–79. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Ngo, V.N.; Young, R.M.; Schmitz, R.; Jhavar, S.; Xiao, W.; Lim, K.H.; Kohlhammer, H.; Xu, W.; Yang, Y.; Zhao, H.; et al. Oncogenically active MYD88 mutations in human lymphoma. Nature 2011, 470, 115–119. [Google Scholar] [CrossRef] [Green Version]
- Morin, R.D.; Mendez-Lago, M.; Mungall, A.J.; Goya, R.; Mungall, K.L.; Corbett, R.D.; Johnson, N.A.; Severson, T.M.; Chiu, R.; Field, M.; et al. Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma. Nature 2011, 476, 298–303. [Google Scholar] [CrossRef]
- Morin, R.D.; Mungall, K.; Pleasance, E.; Mungall, A.J.; Goya, R.; Huff, R.D.; Scott, D.W.; Ding, J.; Roth, A.; Chiu, R.; et al. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood 2013, 122, 1256–1265. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Pasqualucci, L.; Dominguez-Sola, D.; Chiarenza, A.; Fabbri, G.; Grunn, A.; Trifonov, V.; Kasper, L.H.; Lerach, S.; Tang, H.; Ma, J.; et al. Inactivating mutations of acetyltransferase genes in B-cell lymphoma. Nature 2011, 471, 189–195. [Google Scholar] [CrossRef] [Green Version]
- Karube, K.; Enjuanes, A.; Dlouhy, I.; Jares, P.; Martin-Garcia, D.; Nadeu, F.; Ordóñez, G.R.; Rovira, J.; Clot, G.; Royo, C.; et al. Integrating genomic alterations in diffuse large B-cell lymphoma identifies new relevant pathways and potential therapeutic targets. Leukemia 2018, 32, 675–684. [Google Scholar] [CrossRef] [PubMed]
- Schmitz, R.; Wright, G.W.; Huang, D.W.; Johnson, C.A.; Phelan, J.D.; Wang, J.Q.; Roulland, S.; Kasbekar, M.; Young, R.M.; Shaffer, A.L.; et al. Genetics and Pathogenesis of Diffuse Large B-Cell Lymphoma. N. Engl. J. Med. 2018, 378, 1396–1407. [Google Scholar] [CrossRef]
- Wright, G.W.; Huang, D.W.; Phelan, J.D.; Coulibaly, Z.A.; Roulland, S.; Young, R.M.; Wang, J.Q.; Schmitz, R.; Morin, R.D.; Tang, J.; et al. A Probabilistic Classification Tool for Genetic Subtypes of Diffuse Large B Cell Lymphoma with Therapeutic Implications. Cancer Cell 2020, 37, 551–568.e14. [Google Scholar] [CrossRef] [PubMed]
- Reddy, A.; Zhang, J.; Davis, N.S.; Moffitt, A.B.; Love, C.L.; Waldrop, A.; Leppa, S.; Pasanen, A.; Meriranta, L.; Karjalainen-Lindsberg, M.L.; et al. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell 2017, 171, 481–494.e15. [Google Scholar] [CrossRef] [Green Version]
- Chapuy, B.; Stewart, C.; Dunford, A.J.; Kim, J.; Kamburov, A.; Redd, R.A.; Lawrence, M.S.; Roemer, M.G.M.; Li, A.J.; Ziepert, M.; et al. Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes. Nat. Med. 2018, 24, 679–690. [Google Scholar] [CrossRef]
- Shustik, J.; Han, G.; Farinha, P.; Johnson, N.A.; Ben Neriah, S.; Connors, J.M.; Sehn, L.H.; Horsman, D.E.; Gascoyne, R.D.; Steidl, C. Correlations between BCL6 rearrangement and outcome in patients with diffuse large B-cell lymphoma treated with CHOP or R-CHOP. Haematologica 2010, 95, 96–101. [Google Scholar] [CrossRef]
- Ye, Q.; Xu-Monette, Z.Y.; Tzankov, A.; Deng, L.; Wang, X.; Manyam, G.C.; Visco, C.; Montes-Moreno, S.; Zhang, L.; Dybkær, K.; et al. Prognostic impact of concurrent MYC and BCL6 rearrangements and expression in de novo diffuse large B-cell lymphoma. Oncotarget 2016, 7, 2401–2416. [Google Scholar] [CrossRef] [Green Version]
- Li, S.; Weiss, V.L.; Wang, X.J.; Desai, P.A.; Hu, S.; Yin, C.C.; Tang, G.; Reddy, N.M.; Medeiros, L.J.; Lin, P. High-grade B-cell Lymphoma With MYC Rearrangement and Without BCL2 and BCL6 Rearrangements Is Associated With High P53 Expression and a Poor Prognosis. Am. J. Surg. Pathol. 2016, 40, 253–261. [Google Scholar] [CrossRef] [PubMed]
- Pedersen, M.; Gang, A.O.; Poulsen, T.S.; Knudsen, H.; Lauritzen, A.F.; Nielsen, S.L.; Klausen, T.W.; Nørgaard, P. MYC translocation partner gene determines survival of patients with large B-cell lymphoma with MYC- or double-hit MYC/BCL2 translocations. Eur. J. Haematol. 2014, 92, 42–48. [Google Scholar] [CrossRef] [PubMed]
- Aukema, S.M.; Kreuz, M.; Kohler, C.W.; Rosolowski, M.; Hasenclever, D.; Hummel, M.; Küppers, R.; Lenze, D.; Ott, G.; Pott, C.; et al. Biological characterization of adult MYC-translocation-positive mature B-cell lymphomas other than molecular Burkitt lymphoma. Haematologica 2014, 99, 726–735. [Google Scholar] [CrossRef]
- Scott, D.W.; Wright, G.W.; Williams, P.M.; Lih, C.J.; Walsh, W.; Jaffe, E.S.; Rosenwald, A.; Campo, E.; Chan, W.C.; Connors, J.M.; et al. Determining cell-of-origin subtypes of diffuse large B-cell lymphoma using gene expression in formalin-fixed paraffin-embedded tissue. Blood 2014, 123, 1214–1217. [Google Scholar] [CrossRef] [PubMed]
- Rimsza, L.M.; Wright, G.; Schwartz, M.; Chan, W.C.; Jaffe, E.S.; Gascoyne, R.D.; Campo, E.; Rosenwald, A.; Ott, G.; Cook, J.R.; et al. Accurate classification of diffuse large B-cell lymphoma into germinal center and activated B-cell subtypes using a nuclease protection assay on formalin-fixed, paraffin-embedded tissues. Clin. Cancer Res. 2011, 17, 3727–3732. [Google Scholar] [CrossRef] [Green Version]
- Hans, C.P.; Weisenburger, D.D.; Greiner, T.C.; Gascoyne, R.D.; Delabie, J.; Ott, G.; Müller-Hermelink, H.K.; Campo, E.; Braziel, R.M.; Jaffe, E.S.; et al. Confirmation of the molecular classification of diffuse large B-cell lymphoma by immunohistochemistry using a tissue microarray. Blood 2004, 103, 275–282. [Google Scholar] [CrossRef]
- Pongpruttipan, T.; Sukpanichnant, S.; Assanasen, T.; Wannakrairot, P.; Boonsakan, P.; Kanoksil, W.; Kayasut, K.; Mitarnun, W.; Khuhapinant, A.; Bunworasate, U.; et al. Extranodal NK/T-cell lymphoma, nasal type, includes cases of natural killer cell and αβ, γδ, and αβ/γδ T-cell origin: A comprehensive clinicopathologic and phenotypic study. Am. J. Surg. Pathol. 2012, 36, 481–499. [Google Scholar] [CrossRef]
- Meyer, P.N.; Fu, K.; Greiner, T.C.; Smith, L.M.; Delabie, J.; Gascoyne, R.D.; Ott, G.; Rosenwald, A.; Braziel, R.M.; Campo, E.; et al. Immunohistochemical methods for predicting cell of origin and survival in patients with diffuse large B-cell lymphoma treated with rituximab. J. Clin. Oncol. 2011, 29, 200–207. [Google Scholar] [CrossRef] [Green Version]
- Visco, C.; Li, Y.; Xu-Monette, Z.Y.; Miranda, R.N.; Green, T.M.; Tzankov, A.; Wen, W.; Liu, W.M.; Kahl, B.S.; d’Amore, E.S.; et al. Comprehensive gene expression profiling and immunohistochemical studies support application of immunophenotypic algorithm for molecular subtype classification in diffuse large B-cell lymphoma: A report from the International DLBCL Rituximab-CHOP Consortium Program Study. Leukemia 2012, 26, 2103–2113. [Google Scholar]
- Yoon, N.; Ahn, S.; Yong Yoo, H.; Jin Kim, S.; Seog Kim, W.; Hyeh Ko, Y. Cell-of-origin of diffuse large B-cell lymphomas determined by the Lymph2Cx assay: Better prognostic indicator than Hans algorithm. Oncotarget 2017, 8, 22014–22022. [Google Scholar] [CrossRef] [Green Version]
- Hu, S.; Xu-Monette, Z.Y.; Balasubramanyam, A.; Manyam, G.C.; Visco, C.; Tzankov, A.; Liu, W.M.; Miranda, R.N.; Zhang, L.; Montes-Moreno, S.; et al. CD30 expression defines a novel subgroup of diffuse large B-cell lymphoma with favorable prognosis and distinct gene expression signature: A report from the International DLBCL Rituximab-CHOP Consortium Program Study. Blood 2013, 121, 2715–2724. [Google Scholar] [CrossRef]
- Gong, Q.X.; Wang, Z.; Liu, C.; Li, X.; Lu, T.X.; Liang, J.H.; Xu, W.; Li, J.Y.; Zhang, Z.H. CD30 expression and its correlation with MYC and BCL2 in de novo diffuse large B-cell lymphoma. J. Clin. Pathol. 2018, 71, 795–801. [Google Scholar] [CrossRef]
- Xu-Monette, Z.Y.; Tu, M.; Jabbar, K.J.; Cao, X.; Tzankov, A.; Visco, C.; Nagarajan, L.; Cai, Q.; Montes-Moreno, S.; An, Y.; et al. Clinical and biological significance of de novo CD5+ diffuse large B-cell lymphoma in Western countries. Oncotarget 2015, 6, 5615–5633. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Georgiou, K.; Chen, L.; Berglund, M.; Ren, W.; de Miranda, N.F.; Lisboa, S.; Fangazio, M.; Zhu, S.; Hou, Y.; Wu, K.; et al. Genetic basis of PD-L1 overexpression in diffuse large B-cell lymphomas. Blood 2016, 127, 3026–3034. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Xu-Monette, Z.Y.; Wu, L.; Visco, C.; Tai, Y.C.; Tzankov, A.; Liu, W.M.; Montes-Moreno, S.; Dybkaer, K.; Chiu, A.; Orazi, A.; et al. Mutational profile and prognostic significance of TP53 in diffuse large B-cell lymphoma patients treated with R-CHOP: Report from an International DLBCL Rituximab-CHOP Consortium Program Study. Blood 2012, 120, 3986–3996. [Google Scholar] [CrossRef] [PubMed]
- Ott, G. Aggressive B-cell lymphomas in the update of the 4th edition of the World Health Organization classification of haematopoietic and lymphatic tissues: Refinements of the classification, new entities and genetic findings. Br. J. Haematol. 2017, 178, 871–887. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Horn, H.; Staiger, A.M.; Vöhringer, M.; Hay, U.; Campo, E.; Rosenwald, A.; Ott, G.; Ott, M.M. Diffuse large B-cell lymphomas of immunoblastic type are a major reservoir for MYC-IGH translocations. Am. J. Surg. Pathol. 2015, 39, 61–66. [Google Scholar] [CrossRef]
- Li, M.; Liu, Y.; Wang, Y.; Chen, G.; Chen, Q.; Xiao, H.; Liu, F.; Qi, C.; Yu, Z.; Li, X.; et al. Anaplastic Variant of Diffuse Large B-cell Lymphoma Displays Intricate Genetic Alterations and Distinct Biological Features. Am. J. Surg. Pathol. 2017, 41, 1322–1332. [Google Scholar] [CrossRef]
- Scott, D.W.; King, R.L.; Staiger, A.M.; Ben-Neriah, S.; Jiang, A.; Horn, H.; Mottok, A.; Farinha, P.; Slack, G.W.; Ennishi, D.; et al. High-grade B-cell lymphoma with. Blood 2018, 131, 2060–2064. [Google Scholar] [CrossRef]
- Ok, C.Y.; Medeiros, L.J. High-grade B-cell lymphoma: A term re-purposed in the revised WHO classification. Pathology 2020, 52, 68–77. [Google Scholar] [CrossRef] [Green Version]
- Wang, W.; Hu, S.; Lu, X.; Young, K.H.; Medeiros, L.J. Triple-hit B-cell Lymphoma With MYC, BCL2, and BCL6 Translocations/Rearrangements: Clinicopathologic Features of 11 Cases. Am. J. Surg. Pathol. 2015, 39, 1132–1139. [Google Scholar] [CrossRef]
- Huang, W.; Medeiros, L.J.; Lin, P.; Wang, W.; Tang, G.; Khoury, J.; Konoplev, S.; Yin, C.C.; Xu, J.; Oki, Y.; et al. MYC/BCL2/BCL6 triple hit lymphoma: A study of 40 patients with a comparison to MYC/BCL2 and MYC/BCL6 double hit lymphomas. Mod. Pathol. 2018, 31, 1470–1478. [Google Scholar] [CrossRef] [Green Version]
- Oki, Y.; Noorani, M.; Lin, P.; Davis, R.E.; Neelapu, S.S.; Ma, L.; Ahmed, M.; Rodriguez, M.A.; Hagemeister, F.B.; Fowler, N.; et al. Double hit lymphoma: The MD Anderson Cancer Center clinical experience. Br. J. Haematol. 2014, 166, 891–901. [Google Scholar] [CrossRef] [PubMed]
- Petrich, A.M.; Gandhi, M.; Jovanovic, B.; Castillo, J.J.; Rajguru, S.; Yang, D.T.; Shah, K.A.; Whyman, J.D.; Lansigan, F.; Hernandez-Ilizaliturri, F.J.; et al. Impact of induction regimen and stem cell transplantation on outcomes in double-hit lymphoma: A multicenter retrospective analysis. Blood 2014, 124, 2354–2361. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Niitsu, N.; Okamoto, M.; Miura, I.; Hirano, M. Clinical features and prognosis of de novo diffuse large B-cell lymphoma with t(14;18) and 8q24/c-MYC translocations. Leukemia 2009, 23, 777–783. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Johnson, N.A.; Slack, G.W.; Savage, K.J.; Connors, J.M.; Ben-Neriah, S.; Rogic, S.; Scott, D.W.; Tan, K.L.; Steidl, C.; Sehn, L.H.; et al. Concurrent expression of MYC and BCL2 in diffuse large B-cell lymphoma treated with rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisone. J. Clin. Oncol. 2012, 30, 3452–3459. [Google Scholar] [CrossRef]
- Pillai, R.K.; Sathanoori, M.; Van Oss, S.B.; Swerdlow, S.H. Double-hit B-cell lymphomas with BCL6 and MYC translocations are aggressive, frequently extranodal lymphomas distinct from BCL2 double-hit B-cell lymphomas. Am. J. Surg. Pathol. 2013, 37, 323–332. [Google Scholar] [CrossRef]
- Li, S.; Saksena, A.; Desai, P.; Xu, J.; Zuo, Z.; Lin, P.; Tang, G.; Yin, C.C.; Seegmiller, A.; Jorgensen, J.L.; et al. Prognostic impact of history of follicular lymphoma, induction regimen and stem cell transplant in patients with MYC/BCL2 double hit lymphoma. Oncotarget 2016, 7, 38122–38132. [Google Scholar] [CrossRef] [Green Version]
- Roth, C.G.; Gillespie-Twardy, A.; Marks, S.; Agha, M.; Raptis, A.; Hou, J.Z.; Farah, R.; Lin, Y.; Qian, Y.; Pantanowitz, L.; et al. Flow Cytometric Evaluation of Double/Triple Hit Lymphoma. Oncol. Res. 2016, 23, 137–146. [Google Scholar] [CrossRef] [PubMed]
- Johnson, N.A.; Savage, K.J.; Ludkovski, O.; Ben-Neriah, S.; Woods, R.; Steidl, C.; Dyer, M.J.; Siebert, R.; Kuruvilla, J.; Klasa, R.; et al. Lymphomas with concurrent BCL2 and MYC translocations: The critical factors associated with survival. Blood 2009, 114, 2273–2279. [Google Scholar] [CrossRef] [Green Version]
- Pedersen, M.; Gang, A.O.; Poulsen, T.S.; Knudsen, H.; Lauritzen, A.F.; Nielsen, S.L.; Gang, U.O.; Nørgaard, P. Double-hit BCL2/MYC translocations in a consecutive cohort of patients with large B-cell lymphoma—A single centre’s experience. Eur. J. Haematol. 2012, 89, 63–71. [Google Scholar] [CrossRef]
- McPhail, E.D.; Maurer, M.J.; Macon, W.R.; Feldman, A.L.; Kurtin, P.J.; Ketterling, R.P.; Vaidya, R.; Cerhan, J.R.; Ansell, S.M.; Porrata, L.F.; et al. Inferior survival in high-grade B-cell lymphoma with. Haematologica 2018, 103, 1899–1907. [Google Scholar] [CrossRef] [Green Version]
- Rosenwald, A.; Bens, S.; Advani, R.; Barrans, S.; Copie-Bergman, C.; Elsensohn, M.H.; Natkunam, Y.; Calaminici, M.; Sander, B.; Baia, M.; et al. Prognostic Significance of. J. Clin. Oncol. 2019, 37, 3359–3368. [Google Scholar] [CrossRef] [Green Version]
- King, R.L.; McPhail, E.D.; Meyer, R.G.; Vasmatzis, G.; Pearce, K.; Smadbeck, J.B.; Ketterling, R.P.; Smoley, S.A.; Greipp, P.T.; Hoppman, N.L.; et al. False-negative rates for. Haematologica 2019, 104, e248–e251. [Google Scholar] [CrossRef] [Green Version]
- Boerma, E.G.; Siebert, R.; Kluin, P.M.; Baudis, M. Translocations involving 8q24 in Burkitt lymphoma and other malignant lymphomas: A historical review of cytogenetics in the light of todays knowledge. Leukemia 2009, 23, 225–234. [Google Scholar] [CrossRef] [Green Version]
- Momose, S.; Weißbach, S.; Pischimarov, J.; Nedeva, T.; Bach, E.; Rudelius, M.; Geissinger, E.; Staiger, A.M.; Ott, G.; Rosenwald, A. The diagnostic gray zone between Burkitt lymphoma and diffuse large B-cell lymphoma is also a gray zone of the mutational spectrum. Leukemia 2015, 29, 1789–1791. [Google Scholar] [CrossRef] [PubMed]
- Evrard, S.M.; Péricart, S.; Grand, D.; Amara, N.; Escudié, F.; Gilhodes, J.; Bories, P.; Traverse-Glehen, A.; Dubois, R.; Brousset, P.; et al. Targeted next generation sequencing reveals high mutation frequency of. Haematologica 2019, 104, e154–e157. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Stengel, A.; Kern, W.; Meggendorfer, M.; Haferlach, T.; Haferlach, C. Detailed molecular analysis and evaluation of prognosis in cases with high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements. Br. J. Haematol. 2019, 185, 951–954. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Kanagal-Shamanna, R.; Medeiros, L.J.; Lu, G.; Wang, S.A.; Manning, J.T.; Lin, P.; Penn, G.M.; Young, K.H.; You, M.J.; Vega, F.; et al. High-grade B cell lymphoma, unclassifiable, with blastoid features: An unusual morphological subgroup associated frequently with BCL2 and/or MYC gene rearrangements and a poor prognosis. Histopathology 2012, 61, 945–954. [Google Scholar] [CrossRef] [PubMed]
- Moore, E.M.; Aggarwal, N.; Surti, U.; Swerdlow, S.H. Further Exploration of the Complexities of Large B-Cell Lymphomas With MYC Abnormalities and the Importance of a Blastoid Morphology. Am. J. Surg. Pathol. 2017, 41, 1155–1166. [Google Scholar] [CrossRef] [PubMed]
- Landsburg, D.J.; Falkiewicz, M.K.; Petrich, A.M.; Chu, B.A.; Behdad, A.; Li, S.; Medeiros, L.J.; Cassaday, R.D.; Reddy, N.M.; Bast, M.A.; et al. Sole rearrangement but not amplification of MYC is associated with a poor prognosis in patients with diffuse large B cell lymphoma and B cell lymphoma unclassifiable. Br. J. Haematol. 2016, 175, 631–640. [Google Scholar] [CrossRef] [Green Version]
- Li, S.; Lin, P.; Young, K.H.; Kanagal-Shamanna, R.; Yin, C.C.; Medeiros, L.J. MYC/BCL2 double-hit high-grade B-cell lymphoma. Adv. Anat. Pathol. 2013, 20, 315–326. [Google Scholar] [CrossRef] [PubMed]
- Casulo, C.; Friedberg, J.W. Burkitt lymphoma- a rare but challenging lymphoma. Best Pr. Res. Clin. Haematol. 2018, 31, 279–284. [Google Scholar] [CrossRef] [PubMed]
- Orem, J.; Mbidde, E.K.; Lambert, B.; de Sanjose, S.; Weiderpass, E. Burkitt’s lymphoma in Africa, a review of the epidemiology and etiology. Afr. Health Sci. 2007, 7, 166–175. [Google Scholar] [PubMed]
- Kelly, G.L.; Rickinson, A.B. Burkitt lymphoma: Revisiting the pathogenesis of a virus-associated malignancy. Hematol. Am. Soc. Hematol. Educ. Program 2007, 277–284. [Google Scholar] [CrossRef] [Green Version]
- Ribrag, V.; Koscielny, S.; Bosq, J.; Leguay, T.; Casasnovas, O.; Fornecker, L.M.; Recher, C.; Ghesquieres, H.; Morschhauser, F.; Girault, S.; et al. Rituximab and dose-dense chemotherapy for adults with Burkitt’s lymphoma: A randomised, controlled, open-label, phase 3 trial. Lancet 2016, 387, 2402–2411. [Google Scholar] [CrossRef]
- Velavan, T.P. Epstein-Barr virus, malaria and endemic Burkitt lymphoma. EBioMedicine 2019, 39, 13–14. [Google Scholar] [CrossRef] [Green Version]
- Queiroga, E.M.; Gualco, G.; Weiss, L.M.; Dittmer, D.P.; Araujo, I.; Klumb, C.E.; Harrington, W.J.; Bacchi, C.E. Burkitt lymphoma in Brazil is characterized by geographically distinct clinicopathologic features. Am. J. Clin. Pathol. 2008, 130, 946–956. [Google Scholar] [CrossRef] [Green Version]
- Araujo, I.; Bittencourt, A.L.; Barbosa, H.S.; Netto, E.M.; Mendonça, N.; Foss, H.D.; Hummel, M.; Stein, H. The high frequency of EBV infection in pediatric Hodgkin lymphoma is related to the classical type in Bahia, Brazil. Virchows Arch. 2006, 449, 315–319. [Google Scholar] [CrossRef] [PubMed]
- Hassan, R.; Klumb, C.E.; Felisbino, F.E.; Guiretti, D.M.; White, L.R.; Stefanoff, C.G.; Barros, M.H.; Seuánez, H.N.; Zalcberg, I.R. Clinical and demographic characteristics of Epstein-Barr virus-associated childhood Burkitt’s lymphoma in Southeastern Brazil: Epidemiological insights from an intermediate risk region. Haematologica 2008, 93, 780–783. [Google Scholar] [CrossRef]
- Penther, D.; Viailly, P.J.; Latour, S.; Etancelin, P.; Bohers, E.; Vellemans, H.; Camus, V.; Menard, A.L.; Coutant, S.; Lanic, H.; et al. A recurrent clonally distinct Burkitt lymphoma case highlights genetic key events contributing to oncogenesis. Genes Chromosomes Cancer 2019, 58, 595–601. [Google Scholar] [CrossRef] [PubMed]
- Dunleavy, K.; Little, R.F.; Wilson, W.H. Update on Burkitt Lymphoma. Hematol. Oncol. Clin. North. Am. 2016, 30, 1333–1343. [Google Scholar] [CrossRef]
- Schmitz, R.; Young, R.M.; Ceribelli, M.; Jhavar, S.; Xiao, W.; Zhang, M.; Wright, G.; Shaffer, A.L.; Hodson, D.J.; Buras, E.; et al. Burkitt lymphoma pathogenesis and therapeutic targets from structural and functional genomics. Nature 2012, 490, 116–120. [Google Scholar] [CrossRef] [PubMed]
- Love, C.; Sun, Z.; Jima, D.; Li, G.; Zhang, J.; Miles, R.; Richards, K.L.; Dunphy, C.H.; Choi, W.W.; Srivastava, G.; et al. The genetic landscape of mutations in Burkitt lymphoma. Nat. Genet. 2012, 44, 1321–1325. [Google Scholar] [CrossRef] [Green Version]
- Panea, R.I.; Love, C.L.; Shingleton, J.R.; Reddy, A.; Bailey, J.A.; Moormann, A.M.; Otieno, J.A.; Ong’echa, J.M.; Oduor, C.I.; Schroeder, K.M.S.; et al. The whole-genome landscape of Burkitt lymphoma subtypes. Blood 2019, 134, 1598–1607. [Google Scholar] [CrossRef] [PubMed]
- Saleh, K.; Michot, J.M.; Camara-Clayette, V.; Vassetsky, Y.; Ribrag, V. Burkitt and Burkitt-Like Lymphomas: A Systematic Review. Curr. Oncol. Rep. 2020, 22, 33. [Google Scholar] [CrossRef] [PubMed]
- Farria, A.T.; Mustachio, L.M.; Akdemir, Z.H.C.; Dent, S.Y.R. GCN5 HAT inhibition reduces human Burkitt lymphoma cell survival through reduction of MYC target gene expression and impeding BCR signaling pathways. Oncotarget 2019, 10, 5847–5858. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Hemann, M.T.; Bric, A.; Teruya-Feldstein, J.; Herbst, A.; Nilsson, J.A.; Cordon-Cardo, C.; Cleveland, J.L.; Tansey, W.P.; Lowe, S.W. Evasion of the p53 tumour surveillance network by tumour-derived MYC mutants. Nature 2005, 436, 807–811. [Google Scholar] [CrossRef] [Green Version]
- Hüllein, J.; Słabicki, M.; Rosolowski, M.; Jethwa, A.; Habringer, S.; Tomska, K.; Kurilov, R.; Lu, J.; Scheinost, S.; Wagener, R.; et al. MDM4 Is Targeted by 1q Gain and Drives Disease in Burkitt Lymphoma. Cancer Res. 2019, 79, 3125–3138. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Rosenthal, A.; Rimsza, L. Genomics of aggressive B-cell lymphoma. Hematol. Am. Soc. Hematol. Educ. Program 2018, 2018, 69–74. [Google Scholar] [CrossRef] [Green Version]
- Gonzalez-Farre, B.; Ramis-Zaldivar, J.E.; Salmeron-Villalobos, J.; Balagué, O.; Celis, V.; Verdu-Amoros, J.; Nadeu, F.; Sábado, C.; Ferrández, A.; Garrido, M.; et al. Burkitt-like lymphoma with 11q aberration: A germinal center-derived lymphoma genetically unrelated to Burkitt lymphoma. Haematologica 2019, 104, 1822–1829. [Google Scholar] [CrossRef] [PubMed]
- Grygalewicz, B.; Woroniecka, R.; Rymkiewicz, G.; Rygier, J.; Borkowska, K.; Kotyl, A.; Blachnio, K.; Bystydzienski, Z.; Nowakowska, B.; Pienkowska-Grela, B. The 11q-Gain/Loss Aberration Occurs Recurrently in MYC-Negative Burkitt-like Lymphoma With 11q Aberration, as Well as MYC-Positive Burkitt Lymphoma and MYC-Positive High-Grade B-Cell Lymphoma, NOS. Am. J. Clin. Pathol. 2017, 149, 17–28. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Collins, K.; Mnayer, L.; Shen, P. Burkitt-like lymphoma with 11q aberration. Clin. Case Rep. 2019, 7, 1823–1824. [Google Scholar] [CrossRef] [Green Version]
- Salaverria, I.; Martin-Guerrero, I.; Wagener, R.; Kreuz, M.; Kohler, C.W.; Richter, J.; Pienkowska-Grela, B.; Adam, P.; Burkhardt, B.; Claviez, A.; et al. A recurrent 11q aberration pattern characterizes a subset of MYC-negative high-grade B-cell lymphomas resembling Burkitt lymphoma. Blood 2014, 123, 1187–1198. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Rymkiewicz, G.; Grygalewicz, B.; Chechlinska, M.; Blachnio, K.; Bystydzienski, Z.; Romejko-Jarosinska, J.; Woroniecka, R.; Zajdel, M.; Domanska-Czyz, K.; Martin-Garcia, D.; et al. A comprehensive flow-cytometry-based immunophenotypic characterization of Burkitt-like lymphoma with 11q aberration. Mod. Pathol. 2018, 31, 732–743. [Google Scholar] [CrossRef]
- Liu, Y.; Bian, T.; Zhang, Y.; Zheng, Y.; Zhang, J.; Zhou, X.; Xie, J. A combination of LMO2 negative and CD38 positive is useful for the diagnosis of Burkitt lymphoma. Diagn. Pathol. 2019, 14, 100. [Google Scholar] [CrossRef] [Green Version]
- Richter, J.; Schlesner, M.; Hoffmann, S.; Kreuz, M.; Leich, E.; Burkhardt, B.; Rosolowski, M.; Ammerpohl, O.; Wagener, R.; Bernhart, S.H.; et al. Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing. Nat. Genet. 2012, 44, 1316–1320. [Google Scholar]
- Wagener, R.; Seufert, J.; Raimondi, F.; Bens, S.; Kleinheinz, K.; Nagel, I.; Altmüller, J.; Thiele, H.; Hübschmann, D.; Kohler, C.W.; et al. The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma. Blood 2019, 133, 962–966. [Google Scholar] [CrossRef] [Green Version]
- Hartmann, S.; Plütschow, A.; Mottok, A.; Bernd, H.W.; Feller, A.C.; Ott, G.; Cogliatti, S.; Fend, F.; Quintanilla-Martinez, L.; Stein, H.; et al. The time to relapse correlates with the histopathological growth pattern in nodular lymphocyte predominant Hodgkin lymphoma. Am. J. Hematol. 2019, 94, 1208–1213. [Google Scholar] [CrossRef]
- Nam-Cha, S.H.; Roncador, G.; Sanchez-Verde, L.; Montes-Moreno, S.; Acevedo, A.; Domínguez-Franjo, P.; Piris, M.A. PD-1, a follicular T-cell marker useful for recognizing nodular lymphocyte-predominant Hodgkin lymphoma. Am. J. Surg. Pathol. 2008, 32, 1252–1257. [Google Scholar] [CrossRef]
- Nam-Cha, S.H.; Montes-Moreno, S.; Salcedo, M.T.; Sanjuan, J.; Garcia, J.F.; Piris, M.A. Lymphocyte-rich classical Hodgkin’s lymphoma: Distinctive tumor and microenvironment markers. Mod. Pathol. 2009, 22, 1006–1015. [Google Scholar] [CrossRef] [Green Version]
- Hartmann, S.; Döring, C.; Jakobus, C.; Rengstl, B.; Newrzela, S.; Tousseyn, T.; Sagaert, X.; Ponzoni, M.; Facchetti, F.; de Wolf-Peeters, C.; et al. Nodular lymphocyte predominant hodgkin lymphoma and T cell/histiocyte rich large B cell lymphoma—Endpoints of a spectrum of one disease? PLoS ONE 2013, 8, e78812. [Google Scholar] [CrossRef] [PubMed]
- Brune, V.; Tiacci, E.; Pfeil, I.; Döring, C.; Eckerle, S.; van Noesel, C.J.; Klapper, W.; Falini, B.; von Heydebreck, A.; Metzler, D.; et al. Origin and pathogenesis of nodular lymphocyte-predominant Hodgkin lymphoma as revealed by global gene expression analysis. J. Exp. Med. 2008, 205, 2251–2268. [Google Scholar] [CrossRef] [PubMed]
- Wickert, R.S.; Weisenburger, D.D.; Tierens, A.; Greiner, T.C.; Chan, W.C. Clonal relationship between lymphocytic predominance Hodgkin’s disease and concurrent or subsequent large-cell lymphoma of B lineage. Blood 1995, 86, 2312–2320. [Google Scholar] [CrossRef]
- Greiner, T.C.; Gascoyne, R.D.; Anderson, M.E.; Kingma, D.W.; Adomat, S.A.; Said, J.; Jaffe, E.S. Nodular lymphocyte-predominant Hodgkin’s disease associated with large-cell lymphoma: Analysis of Ig gene rearrangements by V-J polymerase chain reaction. Blood 1996, 88, 657–666. [Google Scholar] [CrossRef]
- Ohno, T.; Huang, J.Z.; Wu, G.; Park, K.H.; Weisenburger, D.D.; Chan, W.C. The tumor cells in nodular lymphocyte-predominant Hodgkin disease are clonally related to the large cell lymphoma occurring in the same individual. Direct demonstration by single cell analysis. Am. J. Clin. Pathol. 2001, 116, 506–511. [Google Scholar] [CrossRef] [Green Version]
- Al-Mansour, M.; Connors, J.M.; Gascoyne, R.D.; Skinnider, B.; Savage, K.J. Transformation to aggressive lymphoma in nodular lymphocyte-predominant Hodgkin’s lymphoma. J. Clin. Oncol. 2010, 28, 793–799. [Google Scholar] [CrossRef] [PubMed]
- Farrell, K.; McKay, P.; Leach, M. Nodular lymphocyte predominant Hodgkin lymphoma behaves as a distinct clinical entity with good outcome: Evidence from 14-year follow-up in the West of Scotland Cancer Network. Leuk. Lymphoma 2011, 52, 1920–1928. [Google Scholar] [CrossRef]
- Fan, Z.; Natkunam, Y.; Bair, E.; Tibshirani, R.; Warnke, R.A. Characterization of variant patterns of nodular lymphocyte predominant hodgkin lymphoma with immunohistologic and clinical correlation. Am. J. Surg. Pathol. 2003, 27, 1346–1356. [Google Scholar] [CrossRef]
- Hartmann, S.; Eichenauer, D.A.; Plütschow, A.; Mottok, A.; Bob, R.; Koch, K.; Bernd, H.W.; Cogliatti, S.; Hummel, M.; Feller, A.C.; et al. The prognostic impact of variant histology in nodular lymphocyte-predominant Hodgkin lymphoma: A report from the German Hodgkin Study Group(GHSG). Blood 2013, 122, 4246–4252. [Google Scholar] [CrossRef] [Green Version]
- Hartmann, S.; Döring, C.; Vucic, E.; Chan, F.C.; Ennishi, D.; Tousseyn, T.; de Wolf-Peeters, C.; Perner, S.; Wlodarska, I.; Steidl, C.; et al. Array comparative genomic hybridization reveals similarities between nodular lymphocyte predominant Hodgkin lymphoma and T cell/histiocyte rich large B cell lymphoma. Br. J. Haematol. 2015, 169, 415–422. [Google Scholar] [CrossRef]
- Franke, S.; Wlodarska, I.; Maes, B.; Vandenberghe, P.; Achten, R.; Hagemeijer, A.; De Wolf-Peeters, C. Comparative genomic hybridization pattern distinguishes T-cell/histiocyte-rich B-cell lymphoma from nodular lymphocyte predominance Hodgkin’s lymphoma. Am. J. Pathol. 2002, 161, 1861–1867. [Google Scholar] [CrossRef]
- Poppe, B.; De Paepe, P.; Michaux, L.; Dastugue, N.; Bastard, C.; Herens, C.; Moreau, E.; Cavazzini, F.; Yigit, N.; Van Limbergen, H.; et al. PAX5/IGH rearrangement is a recurrent finding in a subset of aggressive B-NHL with complex chromosomal rearrangements. Genes Chromosomes Cancer 2005, 44, 218–223. [Google Scholar] [CrossRef]
- Renné, C.; Martín-Subero, J.I.; Hansmann, M.L.; Siebert, R. Molecular cytogenetic analyses of immunoglobulin loci in nodular lymphocyte predominant Hodgkin’s lymphoma reveal a recurrent IGH-BCL6 juxtaposition. J. Mol. Diagn. 2005, 7, 352–356. [Google Scholar] [CrossRef]
- Hartmann, S.; Schuhmacher, B.; Rausch, T.; Fuller, L.; Döring, C.; Weniger, M.; Lollies, A.; Weiser, C.; Thurner, L.; Rengstl, B.; et al. Highly recurrent mutations of SGK1, DUSP2 and JUNB in nodular lymphocyte predominant Hodgkin lymphoma. Leukemia 2016, 30, 844–853. [Google Scholar] [CrossRef]
- Schuhmacher, B.; Bein, J.; Rausch, T.; Benes, V.; Tousseyn, T.; Vornanen, M.; Ponzoni, M.; Thurner, L.; Gascoyne, R.; Steidl, C.; et al. JUNB, DUSP2, SGK1, SOCS1 and CREBBP are frequently mutated in T-cell/histiocyte-rich large B-cell lymphoma. Haematologica 2019, 104, 330–337. [Google Scholar]
- Tian, X.; Pelton, A.; Shahsafaei, A.; Dorfman, D.M. Differential expression of enhancer of zeste homolog 2(EZH2) protein in small cell and aggressive B-cell non-Hodgkin lymphomas and differential regulation of EZH2 expression by p-ERK1/2 and MYC in aggressive B-cell lymphomas. Mod. Pathol. 2016, 29, 1050–1057. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Tian, X.; Xu, J.; Dorfman, D.M. Utility of Combined EZH2, p-ERK1/2, p-STAT, and MYC Expression in the Differential Diagnosis of EZH2-positive Hodgkin Lymphomas and Related Large B-Cell Lymphomas. Am. J. Surg. Pathol. 2019, 43, 102–109. [Google Scholar] [CrossRef]
- Churchill, H.R.; Roncador, G.; Warnke, R.A.; Natkunam, Y. Programmed death 1 expression in variant immunoarchitectural patterns of nodular lymphocyte predominant Hodgkin lymphoma: Comparison with CD57 and lymphomas in the differential diagnosis. Hum. Pathol. 2010, 41, 1726–1734. [Google Scholar] [CrossRef] [PubMed]
- Visser, L.; Rutgers, B.; Diepstra, A.; van den Berg, A.; Sattarzadeh, A. Characterization of the Microenvironment of Nodular Lymphocyte Predominant Hodgkin Lymphoma. Int. J. Mol. Sci. 2016, 17, 2127. [Google Scholar]
- Van Loo, P.; Tousseyn, T.; Vanhentenrijk, V.; Dierickx, D.; Malecka, A.; Vanden Bempt, I.; Verhoef, G.; Delabie, J.; Marynen, P.; Matthys, P.; et al. T-cell/histiocyte-rich large B-cell lymphoma shows transcriptional features suggestive of a tolerogenic host immune response. Haematologica 2010, 95, 440–448. [Google Scholar] [CrossRef] [Green Version]
- Griffin, G.K.; Weirather, J.L.; Roemer, M.; Lipschitz, M.; Kelley, A.; Chen, P.H.; Gusenleitner, D.; Jeter, E.; Gjini, E.; Chapuy, B.; et al. Spatial Signatures Identify Immune Escape via PD-1 as a Defining Feature of T-cell/Histiocyte-rich Large B-cell Lymphoma. Blood 2021, 137, 1353–1364. [Google Scholar] [CrossRef]
- Randall, C.; Fedoriw, Y. Pathology and diagnosis of follicular lymphoma and related entities. Pathology 2020, 52, 30–39. [Google Scholar] [CrossRef] [PubMed]
- Salaverria, I.; Philipp, C.; Oschlies, I.; Kohler, C.W.; Kreuz, M.; Szczepanowski, M.; Burkhardt, B.; Trautmann, H.; Gesk, S.; Andrusiewicz, M.; et al. Translocations activating IRF4 identify a subtype of germinal center-derived B-cell lymphoma affecting predominantly children and young adults. Blood 2011, 118, 139–147. [Google Scholar] [CrossRef]
- Yu, Y.T.; Sakata, S.; Takeuchi, K.; Medeiros, L.J.; Chang, K.C. Tonsillar follicular large B-cell lymphoma with. J. Clin. Pathol. 2020, 73, 120. [Google Scholar] [CrossRef] [PubMed]
- Chisholm, K.M.; Mohlman, J.; Liew, M.; Termuhlen, A.; Cairo, M.S.; Gross, T.G.; Perkins, S.L.; Miles, R.R. IRF4 translocation status in pediatric follicular and diffuse large B-cell lymphoma patients enrolled in Children’s Oncology Group trials. Pediatr. Blood Cancer 2019, 66, e27770. [Google Scholar] [CrossRef]
- Woessmann, W.; Quintanilla-Martinez, L. Rare mature B-cell lymphomas in children and adolescents. Hematol. Oncol. 2019, 37 (Suppl. 1), 53–61. [Google Scholar] [CrossRef] [Green Version]
- Quintanilla-Martinez, L. The 2016 updated WHO classification of lymphoid neoplasias. Hematol. Oncol. 2017, 35 (Suppl. 1), 37–45. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Quintanilla-Martinez, L.; Sander, B.; Chan, J.K.; Xerri, L.; Ott, G.; Campo, E.; Swerdlow, S.H. Indolent lymphomas in the pediatric population: Follicular lymphoma, IRF4/MUM1+ lymphoma, nodal marginal zone lymphoma and chronic lymphocytic leukemia. Virchows Arch. 2016, 468, 141–157. [Google Scholar] [CrossRef]
- Chen, L.; Al-Kzayer, L.F.; Liu, T.; Kobayashi, N.; Nakazawa, Y.; Koike, K. IFR4/MUM1-positive lymphoma in Waldeyer ring with co-expression of CD5 and CD10. Pediatr. Blood Cancer 2017, 64, 311–314. [Google Scholar] [CrossRef]
- Montes-Moreno, S.; King, R.L.; Oschlies, I.; Ponzoni, M.; Goodlad, J.R.; Dotlic, S.; Traverse-Glehen, A.; Ott, G.; Ferry, J.A.; Calaminici, M. Update on lymphoproliferative disorders of the gastrointestinal tract: Disease spectrum from indolent lymphoproliferations to aggressive lymphomas. Virchows Arch. 2020, 476, 667–681. [Google Scholar] [CrossRef]
- Jaffe, E.S. Diagnosis and classification of lymphoma: Impact of technical advances. Semin. Hematol. 2019, 56, 30–36. [Google Scholar] [CrossRef] [PubMed]
- Au-Yeung, R.K.H.; Arias Padilla, L.; Zimmermann, M.; Oschlies, I.; Siebert, R.; Woessmann, W.; Burkhardt, B.; Klapper, W. Experience with provisional WHO-entities large B-cell lymphoma with IRF4-rearrangement and Burkitt-like lymphoma with 11q aberration in paediatric patients of the NHL-BFM group. Br. J. Haematol. 2020, 190, 753–763. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Salaverria, I.; Martin-Guerrero, I.; Burkhardt, B.; Kreuz, M.; Zenz, T.; Oschlies, I.; Arnold, N.; Baudis, M.; Bens, S.; García-Orad, A.; et al. High resolution copy number analysis of IRF4 translocation-positive diffuse large B-cell and follicular lymphomas. Genes Chromosomes Cancer 2013, 52, 150–155. [Google Scholar] [CrossRef] [PubMed]
- Ramis-Zaldivar, J.E.; Gonzalez-Farré, B.; Balagué, O.; Celis, V.; Nadeu, F.; Salmerón-Villalobos, J.; Andrés, M.; Martin-Guerrero, I.; Garrido-Pontnou, M.; Gaafar, A.; et al. Distinct molecular profile of IRF4-rearranged large B-cell lymphoma. Blood 2020, 135, 274–286. [Google Scholar] [CrossRef]
- Martelli, M.; Ferreri, A.; Di Rocco, A.; Ansuinelli, M.; Johnson, P.W.M. Primary mediastinal large B-cell lymphoma. Crit. Rev. Oncol. Hematol. 2017, 113, 318–327. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Bledsoe, J.R.; Redd, R.A.; Hasserjian, R.P.; Soumerai, J.D.; Nishino, H.T.; Boyer, D.F.; Ferry, J.A.; Zukerberg, L.R.; Harris, N.L.; Abramson, J.S.; et al. The immunophenotypic spectrum of primary mediastinal large B-cell lymphoma reveals prognostic biomarkers associated with outcome. Am. J. Hematol. 2016, 91, E436–E441. [Google Scholar] [CrossRef]
- Quintanilla-Martinez, L.; Fend, F. Mediastinal gray zone lymphoma. Haematologica 2011, 96, 496–499. [Google Scholar] [CrossRef] [Green Version]
- Sukswai, N.; Lyapichev, K.; Khoury, J.D.; Medeiros, L.J. Diffuse large B-cell lymphoma variants: An update. Pathology 2020, 52, 53–67. [Google Scholar] [CrossRef] [Green Version]
- Mansouri, L.; Noerenberg, D.; Young, E.; Mylonas, E.; Abdulla, M.; Frick, M.; Asmar, F.; Ljungström, V.; Schneider, M.; Yoshida, K.; et al. Frequent NFKBIE deletions are associated with poor outcome in primary mediastinal B-cell lymphoma. Blood 2016, 128, 2666–2670. [Google Scholar] [CrossRef] [Green Version]
- Wessendorf, S.; Barth, T.F.; Viardot, A.; Mueller, A.; Kestler, H.A.; Kohlhammer, H.; Lichter, P.; Bentz, M.; Döhner, H.; Möller, P.; et al. Further delineation of chromosomal consensus regions in primary mediastinal B-cell lymphomas: An analysis of 37 tumor samples using high-resolution genomic profiling(array-CGH). Leukemia 2007, 21, 2463–2469. [Google Scholar] [CrossRef]
- Jardin, F.; Pujals, A.; Pelletier, L.; Bohers, E.; Camus, V.; Mareschal, S.; Dubois, S.; Sola, B.; Ochmann, M.; Lemonnier, F.; et al. Recurrent mutations of the exportin 1 gene(XPO1) and their impact on selective inhibitor of nuclear export compounds sensitivity in primary mediastinal B-cell lymphoma. Am. J. Hematol. 2016, 91, 923–930. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Ducharme, O.; Beylot-Barry, M.; Pham-Ledard, A.; Bohers, E.; Viailly, P.J.; Bandres, T.; Faur, N.; Frison, E.; Vergier, B.; Jardin, F.; et al. Mutations of the B-Cell Receptor Pathway Confer Chemoresistance in Primary Cutaneous Diffuse Large B-Cell Lymphoma Leg Type. J. Investig. Derm. 2019, 139, 2334–2342.e8. [Google Scholar] [CrossRef] [PubMed]
- Viganò, E.; Gunawardana, J.; Mottok, A.; Van Tol, T.; Mak, K.; Chan, F.C.; Chong, L.; Chavez, E.; Woolcock, B.; Takata, K.; et al. Somatic IL4R mutations in primary mediastinal large B-cell lymphoma lead to constitutive JAK-STAT signaling activation. Blood 2018, 131, 2036–2046. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Mottok, A.; Woolcock, B.; Chan, F.C.; Tong, K.M.; Chong, L.; Farinha, P.; Telenius, A.; Chavez, E.; Ramchandani, S.; Drake, M.; et al. Genomic Alterations in CIITA Are Frequent in Primary Mediastinal Large B Cell Lymphoma and Are Associated with Diminished MHC Class II Expression. Cell Rep. 2015, 13, 1418–1431. [Google Scholar] [CrossRef] [Green Version]
- Mottok, A.; Hung, S.S.; Chavez, E.A.; Woolcock, B.; Telenius, A.; Chong, L.C.; Meissner, B.; Nakamura, H.; Rushton, C.; Viganò, E.; et al. Integrative genomic analysis identifies key pathogenic mechanisms in primary mediastinal large B-cell lymphoma. Blood 2019, 134, 802–813. [Google Scholar] [CrossRef]
- Senff, N.J.; Hoefnagel, J.J.; Jansen, P.M.; Vermeer, M.H.; van Baarlen, J.; Blokx, W.A.; Canninga-van Dijk, M.R.; Geerts, M.L.; Hebeda, K.M.; Kluin, P.M.; et al. Reclassification of 300 primary cutaneous B-Cell lymphomas according to the new WHO-EORTC classification for cutaneous lymphomas: Comparison with previous classifications and identification of prognostic markers. J. Clin. Oncol. 2007, 25, 1581–1587. [Google Scholar] [CrossRef] [Green Version]
- Zinzani, P.L.; Quaglino, P.; Pimpinelli, N.; Berti, E.; Baliva, G.; Rupoli, S.; Martelli, M.; Alaibac, M.; Borroni, G.; Chimenti, S.; et al. Prognostic factors in primary cutaneous B-cell lymphoma: The Italian Study Group for Cutaneous Lymphomas. J. Clin. Oncol. 2006, 24, 1376–1382. [Google Scholar] [CrossRef] [Green Version]
- Hristov, A.C. Primary cutaneous diffuse large B-cell lymphoma, leg type: Diagnostic considerations. Arch. Pathol. Lab. Med. 2012, 136, 876–881. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Rozati, S.; Kempf, W.; Ostheeren-Michaelis, S.; Bode-Lesniewska, B.; Zimmermann, D.R.; Dummer, R.; Cozzio, A. Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type, With Bilateral Intraocular Involvement and Infiltration to the CNS. J. Clin. Oncol. 2016, 34, e93–e96. [Google Scholar] [CrossRef]
- Kempf, W.; Zimmermann, A.K.; Mitteldorf, C. Cutaneous lymphomas-An update 2019. Hematol. Oncol. 2019, 37 (Suppl. 1), 43–47. [Google Scholar] [CrossRef] [Green Version]
- Gardette, E.; Maraval, A.; Brunet-Possenti, F.; Quereux, G.; Beltraminelli, H.; Templier, I.; Hodel, J.; Scherman, E.; Durot, E.; Bagot, M.; et al. Central nervous system involvement of primary cutaneous diffuse large B-cell lymphoma, leg type: 13 cases. J. Eur. Acad. Derm. Venereol. 2017, 31, e498–e501. [Google Scholar] [CrossRef] [PubMed]
- Grange, F.; Bekkenk, M.W.; Wechsler, J.; Meijer, C.J.; Cerroni, L.; Bernengo, M.; Bosq, J.; Hedelin, G.; Fink Puches, R.; van Vloten, W.A.; et al. Prognostic factors in primary cutaneous large B-cell lymphomas: A European multicenter study. J. Clin. Oncol. 2001, 19, 3602–3610. [Google Scholar] [CrossRef] [PubMed]
- Grange, F.; Joly, P.; Barbe, C.; Bagot, M.; Dalle, S.; Ingen-Housz-Oro, S.; Maubec, E.; D’Incan, M.; Ram-Wolff, C.; Dalac, S.; et al. Improvement of survival in patients with primary cutaneous diffuse large B-cell lymphoma, leg type, in France. JAMA Derm. 2014, 150, 535–541. [Google Scholar] [CrossRef] [Green Version]
- Hope, C.B.; Pincus, L.B. Primary cutaneous B-cell lymphomas with large cell predominance-primary cutaneous follicle center lymphoma, diffuse large B-cell lymphoma, leg type and intravascular large B-cell lymphoma. Semin. Diagn. Pathol. 2017, 34, 85–98. [Google Scholar] [CrossRef]
- Koens, L.; Vermeer, M.H.; Willemze, R.; Jansen, P.M. IgM expression on paraffin sections distinguishes primary cutaneous large B-cell lymphoma, leg type from primary cutaneous follicle center lymphoma. Am. J. Surg. Pathol. 2010, 34, 1043–1048. [Google Scholar] [CrossRef]
- Demirkesen, C.; Tüzüner, N.; Esen, T.; Lebe, B.; Ozkal, S. The expression of IgM is helpful in the differentiation of primary cutaneous diffuse large B cell lymphoma and follicle center lymphoma. Leuk. Res. 2011, 35, 1269–1272. [Google Scholar] [CrossRef] [PubMed]
- Kodama, K.; Massone, C.; Chott, A.; Metze, D.; Kerl, H.; Cerroni, L. Primary cutaneous large B-cell lymphomas: Clinicopathologic features, classification, and prognostic factors in a large series of patients. Blood 2005, 106, 2491–2497. [Google Scholar] [CrossRef]
- Menguy, S.; Frison, E.; Prochazkova-Carlotti, M.; Dalle, S.; Dereure, O.; Boulinguez, S.; Dalac, S.; Machet, L.; Ram-Wolff, C.; Verneuil, L.; et al. Double-hit or dual expression of MYC and BCL2 in primary cutaneous large B-cell lymphomas. Mod. Pathol. 2018, 31, 1332–1342. [Google Scholar] [CrossRef] [Green Version]
- Robson, A.; Shukur, Z.; Ally, M.; Kluk, J.; Liu, K.; Pincus, L.; Sahni, D.; Sundram, U.; Subtil, A.; Karai, L.; et al. Immunocytochemical p63 expression discriminates between primary cutaneous follicle centre cell and diffuse large B cell lymphoma-leg type, and is of the TAp63 isoform. Histopathology 2016, 69, 11–19. [Google Scholar] [CrossRef] [PubMed]
- Hallermann, C.; Kaune, K.M.; Siebert, R.; Vermeer, M.H.; Tensen, C.P.; Willemze, R.; Gunawan, B.; Bertsch, H.P.; Neumann, C. Chromosomal aberration patterns differ in subtypes of primary cutaneous B cell lymphomas. J. Investig. Derm. 2004, 122, 1495–1502. [Google Scholar] [CrossRef] [Green Version]
- Dijkman, R.; Tensen, C.P.; Jordanova, E.S.; Knijnenburg, J.; Hoefnagel, J.J.; Mulder, A.A.; Rosenberg, C.; Raap, A.K.; Willemze, R.; Szuhai, K.; et al. Array-based comparative genomic hybridization analysis reveals recurrent chromosomal alterations and prognostic parameters in primary cutaneous large B-cell lymphoma. J. Clin. Oncol. 2006, 24, 296–305. [Google Scholar] [CrossRef]
- Menguy, S.; Prochazkova-Carlotti, M.; Beylot-Barry, M.; Saltel, F.; Vergier, B.; Merlio, J.P.; Pham-Ledard, A. PD-L1 and PD-L2 Are Differentially Expressed by Macrophages or Tumor Cells in Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type. Am. J. Surg. Pathol. 2018, 42, 326–334. [Google Scholar] [CrossRef] [PubMed]
- Zhou, X.A.; Louissaint, A.; Wenzel, A.; Yang, J.; Martinez-Escala, M.E.; Moy, A.P.; Morgan, E.A.; Paxton, C.N.; Hong, B.; Andersen, E.F.; et al. Genomic Analyses Identify Recurrent Alterations in Immune Evasion Genes in Diffuse Large B-Cell Lymphoma, Leg Type. J. Investig. Derm. 2018, 138, 2365–2376. [Google Scholar] [CrossRef] [Green Version]
- Mareschal, S.; Pham-Ledard, A.; Viailly, P.J.; Dubois, S.; Bertrand, P.; Maingonnat, C.; Fontanilles, M.; Bohers, E.; Ruminy, P.; Tournier, I.; et al. Identification of Somatic Mutations in Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type by Massive Parallel Sequencing. J. Investig. Derm. 2017, 137, 1984–1994. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Pham-Ledard, A.; Prochazkova-Carlotti, M.; Andrique, L.; Cappellen, D.; Vergier, B.; Martinez, F.; Grange, F.; Petrella, T.; Beylot-Barry, M.; Merlio, J.P. Multiple genetic alterations in primary cutaneous large B-cell lymphoma, leg type support a common lymphomagenesis with activated B-cell-like diffuse large B-cell lymphoma. Mod. Pathol. 2014, 27, 402–411. [Google Scholar] [CrossRef]
- Menguy, S.; Laharanne, E.; Prochazkova-Carlotti, M.; Gros, A.; Vergier, B.; Parrens, M.; Beylot-Barry, M.; Pham-Ledard, A.; Merlio, J.P. Challenges in Assessing MYC Rearrangement in Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg-Type. Am. J. Surg. Pathol. 2020, 44, 424–427. [Google Scholar] [CrossRef] [PubMed]
- Pham-Ledard, A.; Cappellen, D.; Martinez, F.; Vergier, B.; Beylot-Barry, M.; Merlio, J.P. MYD88 somatic mutation is a genetic feature of primary cutaneous diffuse large B-cell lymphoma, leg type. J. Invest. Derm. 2012, 132, 2118–2120. [Google Scholar] [CrossRef] [Green Version]
- Menguy, S.; Gros, A.; Pham-Ledard, A.; Battistella, M.; Ortonne, N.; Comoz, F.; Balme, B.; Szablewski, V.; Lamant, L.; Carlotti, A.; et al. MYD88 Somatic Mutation Is a Diagnostic Criterion in Primary Cutaneous Large B-Cell Lymphoma. J. Investig. Derm. 2016, 136, 1741–1744. [Google Scholar] [CrossRef] [Green Version]
- Schrader, A.M.R.; Jansen, P.M.; Vermeer, M.H.; Kleiverda, J.K.; Vermaat, J.S.P.; Willemze, R. High Incidence and Clinical Significance of MYC Rearrangements in Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type. Am. J. Surg. Pathol. 2018, 42, 1488–1494. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Fox, L.C.; Yannakou, C.K.; Ryland, G.; Lade, S.; Dickinson, M.; Campbell, B.A.; Prince, H.M. Molecular Mechanisms of Disease Progression in Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type during Ibrutinib Therapy. Int J. Mol. Sci. 2018, 19, 1758. [Google Scholar] [CrossRef] [Green Version]
- Mitteldorf, C.; Berisha, A.; Pfaltz, M.C.; Broekaert, S.M.C.; Schön, M.P.; Kerl, K.; Kempf, W. Tumor Microenvironment and Checkpoint Molecules in Primary Cutaneous Diffuse Large B-Cell Lymphoma-New Therapeutic Targets. Am. J. Surg. Pathol. 2017, 41, 998–1004. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Villano, J.L.; Koshy, M.; Shaikh, H.; Dolecek, T.A.; McCarthy, B.J. Age, gender, and racial differences in incidence and survival in primary CNS lymphoma. Br. J. Cancer 2011, 105, 1414–1418. [Google Scholar] [CrossRef] [PubMed]
- O’Neill, B.P.; Decker, P.A.; Tieu, C.; Cerhan, J.R. The changing incidence of primary central nervous system lymphoma is driven primarily by the changing incidence in young and middle-aged men and differs from time trends in systemic diffuse large B-cell non-Hodgkin’s lymphoma. Am. J. Hematol. 2013, 88, 997–1000. [Google Scholar] [CrossRef] [Green Version]
- Batchelor, T.T. Primary central nervous system lymphoma. Hematol. Am. Soc. Hematol. Educ. Program 2016, 2016, 379–385. [Google Scholar] [CrossRef] [Green Version]
- Bhagavathi, S.; Wilson, J.D. Primary central nervous system lymphoma. Arch. Pathol. Lab. Med. 2008, 132, 1830–1834. [Google Scholar] [CrossRef]
- Liu, J.; Wang, Y.; Liu, Y.; Liu, Z.; Cui, Q.; Ji, N.; Sun, S.; Wang, B.; Sun, X. Immunohistochemical profile and prognostic significance in primary central nervous system lymphoma: Analysis of 89 cases. Oncol. Lett. 2017, 14, 5505–5512. [Google Scholar] [CrossRef] [Green Version]
- Shi, Q.Y.; Feng, X.; Bao, W.; Ma, J.; Lv, J.H.; Wang, X.; Rao, Q.; Shi, Q.L. MYC/BCL2 Co-Expression Is a Stronger Prognostic Factor Compared With the Cell-of-Origin Classification in Primary CNS DLBCL. J. Neuropathol. Exp. Neurol. 2017, 76, 942–948. [Google Scholar] [CrossRef]
- Brunn, A.; Nagel, I.; Montesinos-Rongen, M.; Klapper, W.; Vater, I.; Paulus, W.; Hans, V.; Blümcke, I.; Weis, J.; Siebert, R.; et al. Frequent triple-hit expression of MYC, BCL2, and BCL6 in primary lymphoma of the central nervous system and absence of a favorable MYC(low)BCL2(low) subgroup may underlie the inferior prognosis as compared to systemic diffuse large B cell lymphomas. Acta Neuropathol. 2013, 126, 603–605. [Google Scholar] [CrossRef]
- Nosrati, A.; Monabati, A.; Sadeghipour, A.; Radmanesh, F.; Safaei, A.; Movahedinia, S. MYC, BCL2, and BCL6 rearrangements in primary central nervous system lymphoma of large B cell type. Ann. Hematol. 2019, 98, 169–173. [Google Scholar] [CrossRef] [PubMed]
- Tapia, G.; Baptista, M.J.; Muñoz-Marmol, A.M.; Gaafar, A.; Puente-Pomposo, M.; Garcia, O.; Marginet-Flinch, R.; Sanz, C.; Navarro, J.T.; Sancho, J.M.; et al. MYC protein expression is associated with poor prognosis in primary diffuse large B-cell lymphoma of the central nervous system. APMIS 2015, 123, 596–603. [Google Scholar] [CrossRef] [PubMed]
- Kim, S.; Nam, S.J.; Kwon, D.; Kim, H.; Lee, E.; Kim, T.M.; Heo, D.S.; Park, S.H.; Kim, C.W.; Jeon, Y.K. MYC and BCL2 overexpression is associated with a higher class of Memorial Sloan-Kettering Cancer Center prognostic model and poor clinical outcome in primary diffuse large B-cell lymphoma of the central nervous system. BMC Cancer 2016, 16, 363. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Morin, R.D.; Johnson, N.A.; Severson, T.M.; Mungall, A.J.; An, J.; Goya, R.; Paul, J.E.; Boyle, M.; Woolcock, B.W.; Kuchenbauer, F.; et al. Somatic mutations altering EZH2(Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin. Nat. Genet. 2010, 42, 181–185. [Google Scholar] [CrossRef]
- Berg, T.; Thoene, S.; Yap, D.; Wee, T.; Schoeler, N.; Rosten, P.; Lim, E.; Bilenky, M.; Mungall, A.J.; Oellerich, T.; et al. A transgenic mouse model demonstrating the oncogenic role of mutations in the polycomb-group gene EZH2 in lymphomagenesis. Blood 2014, 123, 3914–3924. [Google Scholar] [CrossRef] [Green Version]
- Guo, S.; Bai, Q.; Rohr, J.; Wang, Y.; Liu, Y.; Zeng, K.; Yu, K.; Zhang, X.; Wang, Z. Clinicopathological features of primary diffuse large B-cell lymphoma of the central nervous system—Strong EZH2 expression implying diagnostic and therapeutic implication. Apmis 2016, 124, 1054–1062. [Google Scholar] [CrossRef] [PubMed]
- Pellissery, S.; Richter, J.; Haake, A.; Montesinos-Rongen, M.; Deckert, M.; Siebert, R. Somatic mutations altering Tyr641 of EZH2 are rare in primary central nervous system lymphoma. Leuk. Lymphoma 2010, 51, 2135–2136. [Google Scholar] [CrossRef]
- Braggio, E.; McPhail, E.R.; Macon, W.; Lopes, M.B.; Schiff, D.; Law, M.; Fink, S.; Sprau, D.; Giannini, C.; Dogan, A.; et al. Primary central nervous system lymphomas: A validation study of array-based comparative genomic hybridization in formalin-fixed paraffin-embedded tumor specimens. Clin. Cancer Res. 2011, 17, 4245–4253. [Google Scholar] [CrossRef] [Green Version]
- Sung, C.O.; Kim, S.C.; Karnan, S.; Karube, K.; Shin, H.J.; Nam, D.H.; Suh, Y.L.; Kim, S.H.; Kim, J.Y.; Kim, S.J.; et al. Genomic profiling combined with gene expression profiling in primary central nervous system lymphoma. Blood 2011, 117, 1291–1300. [Google Scholar] [CrossRef]
- Zhou, Y.; Liu, W.; Xu, Z.; Zhu, H.; Xiao, D.; Su, W.; Zeng, R.; Feng, Y.; Duan, Y.; Zhou, J.; et al. Analysis of Genomic Alteration in Primary Central Nervous System Lymphoma and the Expression of Some Related Genes. Neoplasia 2018, 20, 1059–1069. [Google Scholar] [CrossRef]
- Nayyar, N.; White, M.D.; Gill, C.M.; Lastrapes, M.; Bertalan, M.; Kaplan, A.; D’Andrea, M.R.; Bihun, I.; Kaneb, A.; Dietrich, J.; et al. L265P mutation and. Blood Adv. 2019, 3, 375–383. [Google Scholar] [CrossRef] [Green Version]
- Montesinos-Rongen, M.; Godlewska, E.; Brunn, A.; Wiestler, O.D.; Siebert, R.; Deckert, M. Activating L265P mutations of the MYD88 gene are common in primary central nervous system lymphoma. Acta Neuropathol. 2011, 122, 791–792. [Google Scholar] [CrossRef]
- Vater, I.; Montesinos-Rongen, M.; Schlesner, M.; Haake, A.; Purschke, F.; Sprute, R.; Mettenmeyer, N.; Nazzal, I.; Nagel, I.; Gutwein, J.; et al. The mutational pattern of primary lymphoma of the central nervous system determined by whole-exome sequencing. Leukemia 2015, 29, 677–685. [Google Scholar] [CrossRef]
- Lionakis, M.S.; Dunleavy, K.; Roschewski, M.; Widemann, B.C.; Butman, J.A.; Schmitz, R.; Yang, Y.; Cole, D.E.; Melani, C.; Higham, C.S.; et al. Inhibition of B Cell Receptor Signaling by Ibrutinib in Primary CNS Lymphoma. Cancer Cell 2017, 31, 833–843.e5. [Google Scholar] [CrossRef] [Green Version]
- Todorovic Balint, M.; Jelicic, J.; Mihaljevic, B.; Kostic, J.; Stanic, B.; Balint, B.; Pejanovic, N.; Lucic, B.; Tosic, N.; Marjanovic, I.; et al. Gene Mutation Profiles in Primary Diffuse Large B Cell Lymphoma of Central Nervous System: Next Generation Sequencing Analyses. Int. J. Mol. Sci. 2016, 17, 683. [Google Scholar] [CrossRef] [Green Version]
- Zheng, M.; Perry, A.M.; Bierman, P.; Loberiza, F.; Nasr, M.R.; Szwajcer, D.; Del Bigio, M.R.; Smith, L.M.; Zhang, W.; Greiner, T.C. Frequency of MYD88 and CD79B mutations, and MGMT methylation in primary central nervous system diffuse large B-cell lymphoma. Neuropathology 2017, 37, 509–516. [Google Scholar] [CrossRef]
- Cobbers, J.M.; Wolter, M.; Reifenberger, J.; Ring, G.U.; Jessen, F.; An, H.X.; Niederacher, D.; Schmidt, E.E.; Ichimura, K.; Floeth, F.; et al. Frequent inactivation of CDKN2A and rare mutation of TP53 in PCNSL. Brain Pathol. 1998, 8, 263–276. [Google Scholar] [CrossRef] [PubMed]
- Nakamura, T.; Tateishi, K.; Niwa, T.; Matsushita, Y.; Tamura, K.; Kinoshita, M.; Tanaka, K.; Fukushima, S.; Takami, H.; Arita, H.; et al. Recurrent mutations of CD79B and MYD88 are the hallmark of primary central nervous system lymphomas. Neuropathol. Appl. Neurobiol. 2016, 42, 279–290. [Google Scholar] [CrossRef] [PubMed]
- Arai, M.; Sasaki, A.; Saito, N.; Nakazato, Y. Immunohistochemical analysis of cleaved caspase-3 detects high level of apoptosis frequently in diffuse large B-cell lymphomas of the central nervous system. Pathol. Int. 2005, 55, 122–129. [Google Scholar] [CrossRef]
- Chang, F.; Lee, J.T.; Navolanic, P.M.; Steelman, L.S.; Shelton, J.G.; Blalock, W.L.; Franklin, R.A.; McCubrey, J.A. Involvement of PI3K/Akt pathway in cell cycle progression, apoptosis, and neoplastic transformation: A target for cancer chemotherapy. Leukemia 2003, 17, 590–603. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Munch-Petersen, H.D.; Asmar, F.; Dimopoulos, K.; Areškevičiūtė, A.; Brown, P.; Girkov, M.S.; Pedersen, A.; Sjö, L.D.; Heegaard, S.; Broholm, H.; et al. TP53 hotspot mutations are predictive of survival in primary central nervous system lymphoma patients treated with combination chemotherapy. Acta Neuropathol. Commun. 2016, 4, 40. [Google Scholar] [CrossRef] [Green Version]
- Zorofchian, S.; El-Achi, H.; Yan, Y.; Esquenazi, Y.; Ballester, L.Y. Characterization of genomic alterations in primary central nervous system lymphomas. J. Neurooncol. 2018, 140, 509–517. [Google Scholar] [CrossRef]
- Gandhi, M.K.; Hoang, T.; Law, S.C.; Brosda, S.; O’Rourke, K.; Tobin, J.W.D.; Vari, F.; Murigneux, V.; Fink, L.; Gunawardana, J.; et al. EBV-associated primary CNS lymphoma occurring after immunosuppression is a distinct immunobiological entity. Blood 2021, 137, 1468–1477. [Google Scholar] [CrossRef]
- Chapuy, B.; Roemer, M.G.; Stewart, C.; Tan, Y.; Abo, R.P.; Zhang, L.; Dunford, A.J.; Meredith, D.M.; Thorner, A.R.; Jordanova, E.S.; et al. Targetable genetic features of primary testicular and primary central nervous system lymphomas. Blood 2016, 127, 869–881. [Google Scholar] [CrossRef] [Green Version]
- Berghoff, A.S.; Ricken, G.; Widhalm, G.; Rajky, O.; Hainfellner, J.A.; Birner, P.; Raderer, M.; Preusser, M. PD1(CD279) and PD-L1(CD274, B7H1) expression in primary central nervous system lymphomas(PCNSL). Clin. Neuropathol. 2014, 33, 42–49. [Google Scholar] [CrossRef] [PubMed]
- Furuse, M.; Kuwabara, H.; Ikeda, N.; Hattori, Y.; Ichikawa, T.; Kagawa, N.; Kikuta, K.; Tamai, S.; Nakada, M.; Wakabayashi, T.; et al. PD-L1 and PD-L2 expression in the tumor microenvironment including peritumoral tissue in primary central nervous system lymphoma. BMC Cancer 2020, 20, 277. [Google Scholar] [CrossRef] [PubMed]
- Grommes, C.; Nayak, L.; Tun, H.W.; Batchelor, T.T. Introduction of novel agents in the treatment of primary CNS lymphoma. Neuro. Oncol. 2019, 21, 306–313. [Google Scholar] [CrossRef] [PubMed]
- Ou, A.; Sumrall, A.; Phuphanich, S.; Spetzler, D.; Gatalica, Z.; Xiu, J.; Michelhaugh, S.; Brenner, A.; Pandey, M.; Kesari, S.; et al. Primary CNS lymphoma commonly expresses immune response biomarkers. Neurooncol. Adv. 2020, 2, vdaa018. [Google Scholar] [CrossRef]
- Delsol, G.; Lamant, L.; Mariamé, B.; Pulford, K.; Dastugue, N.; Brousset, P.; Rigal-Huguet, F.; al Saati, T.; Cerretti, D.P.; Morris, S.W.; et al. A new subtype of large B-cell lymphoma expressing the ALK kinase and lacking the 2; 5 translocation. Blood 1997, 89, 1483–1490. [Google Scholar] [CrossRef] [PubMed]
- Gascoyne, R.D.; Lamant, L.; Martin-Subero, J.I.; Lestou, V.S.; Harris, N.L.; Müller-Hermelink, H.K.; Seymour, J.F.; Campbell, L.J.; Horsman, D.E.; Auvigne, I.; et al. ALK-positive diffuse large B-cell lymphoma is associated with Clathrin-ALK rearrangements: Report of 6 cases. Blood 2003, 102, 2568–2573. [Google Scholar] [CrossRef] [Green Version]
- De Paepe, P.; Baens, M.; van Krieken, H.; Verhasselt, B.; Stul, M.; Simons, A.; Poppe, B.; Laureys, G.; Brons, P.; Vandenberghe, P.; et al. ALK activation by the CLTC-ALK fusion is a recurrent event in large B-cell lymphoma. Blood 2003, 102, 2638–2641. [Google Scholar] [CrossRef] [Green Version]
- Adam, P.; Katzenberger, T.; Seeberger, H.; Gattenlöhner, S.; Wolf, J.; Steinlein, C.; Schmid, M.; Müller-Hermelink, H.K.; Ott, G. A case of a diffuse large B-cell lymphoma of plasmablastic type associated with the t(2; 5)(p23; q35) chromosome translocation. Am. J. Surg. Pathol. 2003, 27, 1473–1476. [Google Scholar] [CrossRef]
- Onciu, M.; Behm, F.G.; Downing, J.R.; Shurtleff, S.A.; Raimondi, S.C.; Ma, Z.; Morris, S.W.; Kennedy, W.; Jones, S.C.; Sandlund, J.T. ALK-positive plasmablastic B-cell lymphoma with expression of the NPM-ALK fusion transcript: Report of 2 cases. Blood 2003, 102, 2642–2644. [Google Scholar] [CrossRef] [PubMed]
- Stachurski, D.; Miron, P.M.; Al-Homsi, S.; Hutchinson, L.; Harris, N.L.; Woda, B.; Wang, S.A. Anaplastic lymphoma kinase-positive diffuse large B-cell lymphoma with a complex karyotype and cryptic 3’ ALK gene insertion to chromosome 4 q22-24. Hum. Pathol. 2007, 38, 940–945. [Google Scholar] [CrossRef]
- Van Roosbroeck, K.; Cools, J.; Dierickx, D.; Thomas, J.; Vandenberghe, P.; Stul, M.; Delabie, J.; De Wolf-Peeters, C.; Marynen, P.; Wlodarska, I. ALK-positive large B-cell lymphomas with cryptic SEC31A-ALK and NPM1-ALK fusions. Haematologica 2010, 95, 509–513. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- D’Amore, E.S.; Visco, C.; Menin, A.; Famengo, B.; Bonvini, P.; Lazzari, E. STAT3 pathway is activated in ALK-positive large B-cell lymphoma carrying SQSTM1-ALK rearrangement and provides a possible therapeutic target. Am. J. Surg. Pathol. 2013, 37, 780–786. [Google Scholar] [CrossRef] [PubMed]
- Orwat, D.E.; Batalis, N.I. Intravascular large B-cell lymphoma. Arch. Pathol. Lab. Med. 2012, 136, 333–338. [Google Scholar] [CrossRef]
- Shimada, K.; Yoshida, K.; Suzuki, Y.; Iriyama, C.; Inoue, Y.; Sanada, M.; Kataoka, K.; Yuge, M.; Takagi, Y.; Kusumoto, S.; et al. Frequent genetic alterations in immune checkpoint-related genes in intravascular large B-cell lymphoma. Blood 2021, 137, 1491–1502. [Google Scholar] [CrossRef]
Diffuse Large B-Cell Lymphoma, Nos |
---|
High Grade B-Cell Lymphoma |
High grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangement |
High grade B-cell lymphoma, NOS |
Burkitt lymphoma |
Burkitt-like lymphoma with 11q aberration |
T-Cell/Histiocyte-Rich Large B-Cell Lymphoma |
Diffuse Large B-Cell Lymphoma at Specific Sites |
Large B-cell lymphoma with IRF4 rearrangement (LBCL-IRF4) |
Primary mediastinal (thymic) large B-cell lymphoma (PMBL) |
Primary cutaneous diffuse large B-cell lymphoma, leg type (PCDLBCL-LT) |
Primary diffuse large B-cell lymphoma of the central nervous system (CNS-DLBCL) |
Large B-Cell Lymphomas with Plasmacytic Differentiation |
ALK-positive large B-cell lymphoma (ALK + DLBCL) |
Intravascular large B-cell lymphoma (IVLBCL) |
Entity/Category | Molecular Alterations | ||
---|---|---|---|
Translocations | CNV | Mutations | |
DLBCL-NOS | MYC translocations (10–15%) with IGH, IGL, IGK, PAX5, BCL6, BCL11A, IKZF1 (IKAROS), and BTG1. | PD-L1/L2 amplification (20–25%) | MYD88L265P, CD79B, NOTCH1, EZH2, SGK1, TET2, TP53 |
DLBCL-NOS, ABC-subtype | t(14; 3) (q27; q32)/IGH-BCL6 (30%) | MYD88 (20), CD79A/B (20%), CARD11 (10%), MALT1, BCL10, TNFAIP3, PRDM1/BLIMP1 (30%), MYD88, PIM1, NOTCH2 | |
DLBCL-NOS, GCB-subtype | t(14; 18) (q21; q32)/IGH-BCL2 | EZH2 (20%), EP300, CREBBP, KMT2D, GNA13, GNAI2, SIPR2, BRAF, STAT3, RHOA, SGK1, CARD11, NFKBIE, NFKBIA, CD83, CD58, CD70, BCL2, MEF2B, IRF8, TNFSF14, HCNV1, PTEN, TP53, CDKN2A | |
HGBL-DH (MYC/BCL2) | MYC translocations with 14q32 (IGH; 39%), 22q11 (IGL; 6%), 2p12 (IGK, 7%), 1p36, 3p25, 3q27(BCL6), 4p13, 5q13, 9p13 (PAX5), 12p11, and 13q31., | Gains of chromosomes 7, 8, 11, 12, 18, 20 and X, and losses of 3q, 6q, and 15q26 | CREBBP (80%), BCL2 (60%), KMT2D (60%), MYC (45%), EZH2 (40%), IGLL5 (45%), FOX01 (30%), ID3, CCND3, TCF3, EP300, MEF2B, SGK1, SOCS1, CCND3, TP53. |
HGBL-DH (MYC/BCL6) | MYC translocations with 14q32 (IGH), 22q11 (IGL), 2p12 (IGK), 1p36, 3p25, 3q27(BCL6), 4p13, 5q13, 9p13 (PAX5), 12p11, and 13q31 | ||
HGBL-TH | MYC translocations with 14q32 (IGH), 22q11 (IGL), 2p12 (IGK), 1p36, 3p25, 3q27(BCL6), 4p13, 5q13, 9p13 (PAX5), 12p11, and 13q31 | TP53, BCL2, CCND3, CREBBP, EZH2, ID3, KMT2D, MYC, FOXO1, and SOCS1. | |
HGBCL, NOS | Amplifications of MYC, BCL2, or BCL6. | Isolated MYC (40%), BCL2, or BCL6 breakpoints. Simultaneous rearrangement of BCL6 and BCL2. | |
BL | t(8; 14) (q24; q32) IGH/MYC (80%), t(2; 8)(q12;24) IGK/MYC (15%) and t(8; 22) (q24;11) IGL/MYC (5%) | 1q gain | TCF3 or its negative regulator ID3 (40–70%), CCDN3 (38%), GNA13, RET, PIK3R1, DDX3X, FBXO11, SWI/SNF genes, ARID1A, SMARCA4, BCL7A, BCL6, DNMT1, SNTB2, CTCF, IGLL5, BACH2, TP53 (40%) |
BLL, 11Q | Gains of 12q12-q21.1, losses of 6q12.1-q21.1 | Mutations involving BTG2, DDX3X, ETS1, EP300, and GNA13 | |
THRLBCL | PAX5/IGH rearrangements | Gains of 2p16.1 and PD-L1/PD-L2 (64%). Losses of 2p11.2, and 9p11.2 | JUNB, DUSP2, SGK1, SOC1 |
LBCL-IRF4 | IRF4, BCL6 rearrangements IRF4/IGH fusions | Gains of 7q32.1-qter, 11q22.3-qter, and Xq28 Losses of 6q13–16.1, 15q14–22.3, 17p, and TP53 | CARD11, CD79B, and MYD8 |
PMBL | Amplification of REL (75%) and BCL11A (50%) Deletions of NFKBIE (20%) 9p24.1 (70%) | TNFAIP3 (60%), GNA13 (50%), BCL6 (50%), XPO1(35%), STAT6 (72%), SOCS1 (45%), PTPN1 (25%), IL4R (24,2%), CIITA, CD58, B2, PD-L1, and PD-L2 | |
PCDLBCL-LT | Translocations involving BCL6, MYC, and IGH PD-L1/PD-L2 (40%), IGH-IRF8 | Amplification of BCL2, 18q21 Loss of CDKN2A and CDKN2B, 6q deletions (loss of BLIMP1) | MYD88 (75%), TNFAIP3 (40%), CD79A, CD79B, CARD11, NFKBIE |
CNS-DLBCL | MYC, BCL2, and BCL6 translocations | Gains 18q21.33–23, 10q23.21 and 9p24.1. Deletions of 6p21, 6q and 9q21.3 | PIM1 (77%), MYD88 (64%), CD79B (59%), CDKN2A, IRF4, CARD11, CD79A, ITPKB, KMT2D, CREBBP, MEF2B, CCND1, SOCS1, STAT6, STAT3, CD58, CIITA, GNA13, MYC, RHO, BLC2, PTEN, and SMO |
ALK+ DLBCL | t(2; 17) (p23; q23) Clathrin-ALK (85–90%) t(2; 5) (p23; q35) NPM-ALK, SEC31A-ALK, SQSTM1-ALK, RANBP2-ALK, IGL-ALK, and CLTC-ALK | Insertion of the ALK gene into 4q22–24 | |
IVLBCL | PD-L1/PD-L2 rearrangements | PIM1 (67%), MYD88 (44–59%), CD79B (26–67%), PRDM1 (44%), BTG2 (22%) and EZH2 (4%). |
Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations. |
© 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
Share and Cite
Onaindia, A.; Santiago-Quispe, N.; Iglesias-Martinez, E.; Romero-Abrio, C. Molecular Update and Evolving Classification of Large B-Cell Lymphoma. Cancers 2021, 13, 3352. https://doi.org/10.3390/cancers13133352
Onaindia A, Santiago-Quispe N, Iglesias-Martinez E, Romero-Abrio C. Molecular Update and Evolving Classification of Large B-Cell Lymphoma. Cancers. 2021; 13(13):3352. https://doi.org/10.3390/cancers13133352
Chicago/Turabian StyleOnaindia, Arantza, Nancy Santiago-Quispe, Erika Iglesias-Martinez, and Cristina Romero-Abrio. 2021. "Molecular Update and Evolving Classification of Large B-Cell Lymphoma" Cancers 13, no. 13: 3352. https://doi.org/10.3390/cancers13133352