De Novo RB1 Germline Variant in Retinoblastoma with Two Subsequent Independent Neoplasms: Case Report and Literature Review
Abstract
1. Introduction
2. Case Presentation
3. Discussion
4. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
- Fabian, I.D.; Abdallah, E.; Abdullahi, S.U.; Abdulqader, R.A.; Adamou Boubacar, S.; Ademola-Popoola, D.S.; Adio, A.; Afshar, A.R.; Aggarwal, P.; Aghaji, A.E.; et al. Global Retinoblastoma Presentation and Analysis by National Income Level. JAMA Oncol. 2020, 6, 685–695. [Google Scholar] [PubMed]
- Fletcher, O.; Easton, D.; Anderson, K.; Gilham, C.; Jay, M.; Peto, J. Lifetime risks of common cancers among retinoblastoma survivors. J. Natl. Cancer Inst. 2004, 96, 357–363. [Google Scholar] [CrossRef] [PubMed]
- Kleinerman, R.A.; Tucker, M.A.; Tarone, R.E.; Abramson, D.H.; Seddon, J.M.; Stovall, M.; Li, F.P.; Fraumeni, J.F. Risk of new cancers after radiotherapy in long-term survivors of retinoblastoma: An extended follow-up. J. Clin. Oncol. Off. J. Am. Soc. Clin. Oncol. 2005, 23, 2272–2279. [Google Scholar] [CrossRef] [PubMed]
- Marees, T.; Moll, A.C.; Imhof, S.M.; de Boer, M.R.; Ringens, P.J.; van Leeuwen, F.E. Risk of second malignancies in survivors of retinoblastoma: More than 40 years of follow-up. J. Natl. Cancer Inst. 2008, 100, 1771–1779. [Google Scholar] [CrossRef]
- Gregersen, P.A.; Olsen, M.H.; Urbak, S.F.; Funding, M.; Dalton, S.O.; Overgaard, J.; Alsner, J. Incidence and Mortality of Second Primary Cancers in Danish Patients With Retinoblastoma, 1943–2013. JAMA Netw. Open 2020, 3, e2022126. [Google Scholar] [CrossRef]
- MacCarthy, A.; Bayne, A.M.; Brownbill, P.A.; Bunch, K.J.; Diggens, N.L.; Draper, G.J.; Hawkins, M.M.; Jenkinson, H.C.; E Kingston, J.; A Stiller, C.; et al. Second and subsequent tumours among 1927 retinoblastoma patients diagnosed in Britain 1951–2004. Br. J. Cancer 2013, 108, 2455–2463. [Google Scholar] [CrossRef]
- Abramson, D.H.; Melson, M.R.; Dunkel, I.J.; Frank, C.M. Third (fourth and fifth) nonocular tumors in survivors of retinoblastoma. Ophthalmology 2001, 108, 1868–1876. [Google Scholar] [CrossRef] [PubMed]
- Marees, T.; van Leeuwen, F.E.; Schaapveld, M.; Imhof, S.M.; de Boer, M.R.; Kors, W.A.; Ringens, P.J.; Moll, A.C. Risk of third malignancies and death after a second malignancy in retinoblastoma survivors. Eur. J. Cancer 2010, 46, 2052–2058. [Google Scholar] [CrossRef]
- Fabius, A.W.M.; van Hoefen Wijsard, M.; van Leeuwen, F.E.; Moll, A.C. Subsequent Malignant Neoplasms in Retinoblastoma Survivors. Cancers 2021, 13, 1200. [Google Scholar] [CrossRef]
- Abramson, D.H.; Ellsworth, R.M.; Kitchin, F.D.; Tung, G. Second nonocular tumors in retinoblastoma survivors. Are they radiation-induced? Ophthalmology 1984, 91, 1351–1355. [Google Scholar] [CrossRef]
- Woo, K.I.; Harbour, J.W. Review of 676 second primary tumors in patients with retinoblastoma: Association between age at onset and tumor type. Arch. Ophthalmol. 2010, 128, 865–870. [Google Scholar] [CrossRef] [PubMed]
- Harrison, S.M.; Biesecker, L.G.; Rehm, H.L. Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines. Curr. Protoc. Hum. Genet. 2019, 103, e93. [Google Scholar] [CrossRef] [PubMed]
- Hoang, C.Q.; Duong, H.Q.; Nguyen, N.T.; Nguyen, S.A.H.; Nguyen, C.; Nguyen, B.D.; Phung, L.T.; Nguyen, D.T.; Pham, C.T.M.; Le Doan, T.; et al. Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma. Mol. Clin. Oncol. 2021, 15, 182. [Google Scholar] [CrossRef] [PubMed]
- Sun, J.; Gu, X.; Wang, L. Incidence of second primary cancers in patients with retinoblastoma: A systematic review and meta-analysis. Front. Oncol. 2024, 14, 1372548. [Google Scholar]
- Wong, F.L.; Boice John, D.J.; Abramson, D.H.; Tarone, R.E.; Kleinerman, R.A.; Stovall, M.; Goldman, M.B.; Seddon, J.M.; Tarbell, N.; Fraumeni, J.F.; et al. Cancer Incidence After Retinoblastoma: Radiation Dose and Sarcoma Risk. JAMA 1997, 278, 1262–1267. [Google Scholar] [CrossRef]
- Henderson, T.O.; Moskowitz, C.S.; Chou, J.F.; Bradbury, A.R.; Neglia, J.P.; Dang, C.T.; Onel, K.; Friedman, D.N.; Bhatia, S.; Strong, L.C.; et al. Breast Cancer Risk in Childhood Cancer Survivors Without a History of Chest Radiotherapy: A Report From the Childhood Cancer Survivor Study. J. Clin. Oncol. 2016, 34, 910–918. [Google Scholar] [CrossRef]
- Chantada, G.L.; Fandiño, A.C.; Schvartzman, E.; Raslawski, E.; Schaiquevich, P.; Manzitti, J. Impact of chemoreduction for conservative therapy for retinoblastoma in Argentina. Pediatr. Blood Cancer 2014, 61, 821–826. [Google Scholar] [CrossRef]
- Temming, P.; Arendt, M.; Viehmann, A.; Eisele, L.; Le Guin, C.H.D.; Schündeln, M.M.; Biewald, E.; Astrahantseff, K.; Wieland, R.; Bornfeld, N.; et al. Incidence of second cancers after radiotherapy and systemic chemotherapy in heritable retinoblastoma survivors: A report from the German reference center. Pediatr. Blood Cancer 2017, 64, 71–80. [Google Scholar] [CrossRef]
- Lewandowska, A.M.; Rudzki, M.; Rudzki, S.; Lewandowski, T.; Laskowska, B. Environmental risk factors for cancer—Review paper. Ann. Agric. Environ. Med. 2019, 26, 1–7. [Google Scholar] [CrossRef]
- Thompson, S.; Ritz, B.; Cockburn, M.; Heck, J.E. Prenatal ambient pesticide exposure and childhood retinoblastoma. Int. J. Hyg. Environ. Health 2022, 245, 114025. [Google Scholar] [CrossRef]
- Heck, J.E.; Park, A.S.; Qiu, J.; Cockburn, M.; Ritz, B. Retinoblastoma and ambient exposure to air toxics in the perinatal period. J. Expo. Sci. Environ. Epidemiol. 2015, 25, 182–186. [Google Scholar] [CrossRef] [PubMed]
- García-Pérez, J.; Morales-Piga, A.; Gómez-Barroso, D.; Tamayo-Uria, I.; Pardo Romaguera, E.; López-Abente, G.; Ramis, R. Residential proximity to environmental pollution sources and risk of rare tumors in children. Environ. Res. 2016, 151, 265–274. [Google Scholar] [CrossRef]
- Ferrís ITortajada, J.; Berbel Tornero, O.; Ortega García, J.A.; Claudio-Morales, L.; García ICastell, J.; Martí Perales, V.; Casas, L.M. Risk factors for pediatric malignant bone tumors. An. Pediatr. 2005, 63, 537–547. [Google Scholar] [CrossRef]
- Wong, J.R.; Morton, L.M.; Tucker, M.A.; Abramson, D.H.; Seddon, J.M.; Sampson, J.N.; Kleinerman, R.A. Risk of subsequent malignant neoplasms in long-term hereditary retinoblastoma survivors after chemotherapy and radiotherapy. J. Clin. Oncol. Off. J. Am. Soc. Clin. Oncol. 2014, 32, 3284–3290. [Google Scholar] [CrossRef] [PubMed]
- Abramson, D.H.; Ronner, H.J.; Ellsworth, R.M. Second tumors in nonirradiated bilateral retinoblastoma. Am. J. Ophthalmol. 1979, 87, 624–627. [Google Scholar] [CrossRef]
- Abramson, D.H.; Servodidio, C.A. Retinoblastoma. Optom. Clin. 1993, 3, 49–61. [Google Scholar]
- Moll, A.C.; Imhof, S.M.; Bouter, L.M.; Kuik, D.J.; Den Otter, W.; Bezemer, P.D.; Koten, J.W.; Tan, K.E. Second primary tumors in patients with hereditary retinoblastoma: A register-based follow-up study, 1945–1994. Int. J. Cancer 1996, 67, 515–519. [Google Scholar] [CrossRef]
- Malumbres, M.; Carnero, A. Cell cycle deregulation: A common motif in cancer. Prog. Cell Cycle Res. 2003, 5, 5–18. [Google Scholar]
- Kowalewski, A.A.; Randall, R.L.; Lessnick, S.L. Cell Cycle Deregulation in Ewing’s Sarcoma Pathogenesis. Sarcoma 2011, 2011, 598704. [Google Scholar] [CrossRef]
- Hu, H.-M.; Zielinska-Kwiatkowska, A.; Munro, K.; Wilcox, J.; Wu, D.Y.; Yang, L.; Chansky, H.A. EWS/FLI1 suppresses retinoblastoma protein function and senescence in Ewing’s sarcoma cells. J. Orthop. Res. Off. Publ. Orthop. Res. Soc. 2008, 26, 886–893. [Google Scholar] [CrossRef]
- Kitchin, F.D.; Ellsworth, R.M. Pleiotropic effects of the gene for retinoblastoma. J. Med. Genet. 1974, 11, 244–246. [Google Scholar] [CrossRef]
- Schifter, S.; Vendelbo, L.; Jensen, O.M.; Kaae, S. Ewing’s tumor following bilateral retinoblastoma. A case report. Cancer 1983, 51, 1746–1749. [Google Scholar] [CrossRef] [PubMed]
- Helton, K.J.; Fletcher, B.D.; Kun, L.E.; Jenkins, J.J., III; Pratt, C.B. Bone tumors other than osteosarcoma after retinoblastoma. Cancer 1993, 71, 2847–2853. [Google Scholar] [CrossRef] [PubMed]
- Kay, R.M.; Eckardt, J.J.; Mirra, J.M. Osteosarcoma and Ewing’s Sarcoma in a Retinoblastoma Patient. Clin. Orthop. Relat. Res. 1996, 323, 284–287. [Google Scholar] [CrossRef] [PubMed]
- Ceha, H.M.; Balm, A.J.; de Jong, D.; van ’t Veer, L.J. Multiple malignancies in a patient with bilateral retinoblastoma. J. Laryngol. Otol. 1998, 112, 189–192. [Google Scholar]
- Mohney, B.G.; Robertson, D.M.; Schomberg, P.J.; Hodge, D.O. Second nonocular tumors in survivors of heritable retinoblastoma and prior radiation therapy. Am. J. Ophthalmol. 1998, 126, 269–277. [Google Scholar] [CrossRef]
- Aerts, I.; Pacquement, H.; Doz, F.; Mosseri, V.; Desjardins, L.; Sastre, X.; Michon, J.; Rodriguez, J.; Schlienger, P.; Zucker, J.-M.; et al. Outcome of second malignancies after retinoblastoma: A retrospective analysis of 25 patients treated at the Institut Curie. Eur. J. Cancer 2004, 40, 1522–1529. [Google Scholar] [CrossRef]
- Okeda, R.; Kanazawa, A.; Yamada, M.; Ohkawa, Y.; Kawabata, K.; Yoshida, M.A.; Ikeuchi, T. A 14-year-old patient with Ewing’s sarcoma presenting at autopsy with multiple neurofibrillary tangles and Lewy bodies in addition to hemiatrophy of the central nervous system. Clin. Neuropathol. 1997, 16, 77–84. [Google Scholar]
- Mittal, R.; Al Awadi, S.; Sahar, O.; Behbehani, A.M. Ewing’s Sarcoma as Second Malignant Neoplasm after Retinoblastoma: A Case Report. Med. Princ. Pr. 2008, 17, 84–85. [Google Scholar] [CrossRef]
- Tahasildar, N.; Goni, V.; Bhagwat, K.; Tripathy, S.K.; Panda, B.B. Ewing’s sarcoma as second malignancy following a short latency in unilateral retinoblastoma. J. Orthop. Traumatol. 2011, 12, 167–171. [Google Scholar] [CrossRef]
Sex | Age at Diagnosis RB | Laterality | Familial Case | Therapy | Age at Diagnosis First SMN | Type | Location | Age at Diagnosis Second SMN | Type | Germline Variant | Reference |
---|---|---|---|---|---|---|---|---|---|---|---|
F | 3 m | B | − | En, QT | 5 y | Sarcoma | Left ulna | 9 y | EWS | c.306T>A (p.Cys102*) | Present case |
F | 5 m | B | RT | 7 y | EWS | Femur | - | - | NI | Kitchin (1974) Case 1 [31] | |
F | 5 m | B | RT | 14 y | EWS | Femur | - | - | NI | Kitchin (1974) Case 1 [31] | |
F | 18 m | B | − | En, BT | 9 y | EWS | Right ulna | - | - | NI | Schifter (1983) [32] |
F | 8 m | B | + | QT, RT | 12.5 y | EWS | Right ankle | - | - | NI | Helton (1993) Case 1 [33] |
M | 2 y | U | − | En | 20 y | EWS | Left ilium | - | - | NI | Helton (1993) Case 2 [33] |
F | 1 y | U | − | En | 11 y | EWS | Right ankle | - | - | NI | Helton (1993) Case 3 [33] |
F | 18 m | B | + | En, RT | 4 y | EWS | Right distal femur | 9 y | Osteosarcoma | NI | Kay (1996) [34] |
F | 8 m | U | NS | QT, RT | 12 y | EWS | Scapula | - | - | NI | Okeda (1997) [38] |
F | 12 m | B | − | En, RT, QT | 20 y | EWS | Left fibula | 29 y | Osteosarcoma | NI | Ceha (1998) [35] |
M | 9 m | B | NS | QT | 15 y | EWS | Metatarsal | Mohney (1998) Case 10 [36] | |||
NS | 11 m | B | + | En, RT, QT | 10 y | Osteosarcoma | Zygomatic bone | - | - | NI | Aerts (2004) Case 2 [37] |
NS | 22 m | B | − | En, RT, QT | 7 y | Osteosarcoma | Left humerus | - | - | NI | Aerts (2004) Case 10 [37] |
NS | 30 m | U | + | En, RT | 11 y | Malignant mesenchymal tumor | Left maxillary sinus | - | - | NI | Aerts (2004) Case 24 [37] |
M | 9 m | U | NS | En, QT | 5 y | EWS | Right fibula | - | - | NI | Mittal (2008) [39] |
F | NS | B | NS | RT | 18.4 y | EWS | Knee | 35.8 y | Osteosarcoma | NI | Marees (2010) Case 7 [8] |
F | NS | B | NS | RT | 8 y | Soft tissue | Zygoma | 16.3 y | Orbit | NI | Marees (2010) Case 11 [8] |
M | 36 m | U | NS | En, QT | 5 y | EWS | Right distal humerus | - | - | NI | Tahasildar (2011) [40] |
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Pérez-Becerra, J.d.J.; Rodríguez-Machuca, V.U.; González-Rodríguez, M.T.A.; Brukman-Jiménez, S.A.; Corona-Rivera, A.; Ramirez-Corona, J.A.; Cuero-Quezada, I.; Corona-Rivera, J.R.; Ramírez-Urenda, X.A.; González-Pérez, G.; et al. De Novo RB1 Germline Variant in Retinoblastoma with Two Subsequent Independent Neoplasms: Case Report and Literature Review. Int. J. Mol. Sci. 2024, 25, 12338. https://doi.org/10.3390/ijms252212338
Pérez-Becerra JdJ, Rodríguez-Machuca VU, González-Rodríguez MTA, Brukman-Jiménez SA, Corona-Rivera A, Ramirez-Corona JA, Cuero-Quezada I, Corona-Rivera JR, Ramírez-Urenda XA, González-Pérez G, et al. De Novo RB1 Germline Variant in Retinoblastoma with Two Subsequent Independent Neoplasms: Case Report and Literature Review. International Journal of Molecular Sciences. 2024; 25(22):12338. https://doi.org/10.3390/ijms252212338
Chicago/Turabian StylePérez-Becerra, José de Jesús, Víctor Ulises Rodríguez-Machuca, María Teresa Alejandra González-Rodríguez, Sinhue Alejandro Brukman-Jiménez, Alfredo Corona-Rivera, Juan Antonio Ramirez-Corona, Idalid Cuero-Quezada, Jorge Román Corona-Rivera, Xóchitl Aurora Ramírez-Urenda, Graciela González-Pérez, and et al. 2024. "De Novo RB1 Germline Variant in Retinoblastoma with Two Subsequent Independent Neoplasms: Case Report and Literature Review" International Journal of Molecular Sciences 25, no. 22: 12338. https://doi.org/10.3390/ijms252212338
APA StylePérez-Becerra, J. d. J., Rodríguez-Machuca, V. U., González-Rodríguez, M. T. A., Brukman-Jiménez, S. A., Corona-Rivera, A., Ramirez-Corona, J. A., Cuero-Quezada, I., Corona-Rivera, J. R., Ramírez-Urenda, X. A., González-Pérez, G., Bustos-Rodríguez, F. d. J., & Bobadilla-Morales, L. (2024). De Novo RB1 Germline Variant in Retinoblastoma with Two Subsequent Independent Neoplasms: Case Report and Literature Review. International Journal of Molecular Sciences, 25(22), 12338. https://doi.org/10.3390/ijms252212338