Diagnosis and Molecular Pathology of Lymphoblastic Leukemias and Lymphomas in the Era of Genomics and Precision Medicine: Historical Evolution and Current Concepts—Part 1: Lymphoid Neoplasms
Abstract
:1. Introduction
2. Historical Overview of Lymphoma Classifications
3. Normal B- and T-Lymphocyte Development, the Lymphoid Follicle Germinal Center, and the Basis for Lymphoma Classification
4. Clonality Evaluation in Lymphoid Neoplasms
5. The World Health Organization (WHO) Classification of Hematolymphoid Tumors: The Third, Fourth, and Revised Fourth Editions
6. The Fifth Edition WHO 2022 and the International Consensus Classifications
7. The Crucial Role of Diagnostic Tumor Classifications for Precision Medicine
8. Additional Discussion Points for the Fifth Edition of the WHO 2022 Classification of Hematolymphoid Tumors (WHO-HAEM5)
9. Conclusions and Future Questions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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WHO 2001 Classification of Lymphoid Neoplasms [46] | REAL Classification of Lymphoid Neoplasms, 1994 [24] |
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Precursor B- and T-cell neoplasms Precursor B-lymphoblastic leukemia/lymphoma Precursor T-lymphoblastic leukemia/lymphoma Mature B-cell neoplasms Chronic lymphocytic leukemia a/small lymphocytic leukemia B-cell prolymphocytic leukemia Lymphoplasmacytic lymphoma a/Waldenström macroglobulinemia Splenic marginal zone lymphoma b Hairy cell leukemia Plasma cell myeloma Monoclonal gammopathy of undetermined significance Solitary plasmacytoma of bone Primary amyloidosis Heavy chain diseases Extranodal marginal zone B-cell lymphoma of MALT Nodal marginal zone B-cell lymphoma b Follicular lymphoma a Mantle cell lymphoma Diffuse large B-cell lymphoma Mediastinal (thymic) large B-cell lymphoma Intravascular large B-cell lymphoma Primary effusion lymphoma Burkitt lymphoma/leukemia Lymphomatoid granulomatosis Mature T-cell and NK-cell neoplasms T-cell prolymphocytic leukemia a T-cell large granular lymphocytic leukemia Aggressive NK-cell leukemia Adult T-cell leukemia/lymphoma Extranodal NK/T-cell lymphoma, nasal type a Enteropathy-type T-cell lymphoma Hepatosplenic γδ T-cell lymphoma b Subcutaneous panniculitis-like T-cell lymphoma b Blastic NK-cell lymphoma Mycosis fungoides/Sezary syndrome Primary cutaneous CD30 positive T-cell lymphoproliferative disorders Primary cutaneous anaplastic large-cell lymphoma Lymphomatoid papulosis Angioimmunoblastic T-cell lymphoma Peripheral T-cell lymphoma, unspecified Anaplastic large-cell lymphoma Hodgkin lymphoma a Nodular lymphocyte-predominant Hodgkin lymphoma a Classical Hodgkin lymphoma Nodular sclerosis Hodgkin lymphoma Mixed cellularity Hodgkin lymphoma Lymphocyte-rich classical Hodgkin lymphoma b Lymphocyte-depleted Hodgkin lymphoma | B-Cell Neoplasms I. Precursor B-cell neoplasm Precursor B-lymphoblastic leukemia/lymphoma II. Peripheral B-cell neoplasms 1. B-cell chronic lymphocytic leukemia/prolymphocytic leukemia/small lymphocytic lymphoma 2. Lymphoplasmacytic lymphoma/immunocytoma 3. Mantle cell lymphoma 4. Follicle center lymphoma, follicular Provisional cytologic grades: I (small cell), II (mixed small and large cell), III (large cell) Provisional subtype: Diffuse, predominantly small cell type 5. Marginal zone B-cell lymphoma Extranodal (mucosa-associated lymphoid tissue-type) Provisional subtype: Nodal 6. Provisional entity: Splenic marginal zone lymphoma (+/− villous lymphocytes) 7. Hairy cell leukemia 8. Plasmacytoma/plasma cell myeloma 9. Diffuse large B-cell lymphoma c Primary mediastinal (thymic) B-cell lymphoma 10. Burkitt’s lymphoma 11. Provisional entity: High-grade B-cell lymphoma, Burkitt-like c T-Cell and Putative NK-Cell Neoplasms I. Precursor T-cell neoplasm: Precursor T-lymphoblastic lymphoma/leukemia II. Peripheral T-cell and NK-cell neoplasms 1. T-cell chronic lymphocytic leukemia d/prolymphocytic leukemia 2. Large granular lymphocyte leukemia (LGL) T-cell type NK-cell type 3. Mycosis fungoides (MF)/Sezary syndrome 4. Peripheral T-cell lymphomas, unspecified c Provisional cytologic categories and entities: medium-sized cell, mixed medium and large cell, large cell, lymphoepithelioid cell Subcutaneous panniculitic T-cell lymphoma Hepatosplenic γδ T-cell lymphoma 5. Angioimmunoblastic T-cell lymphoma (AILD) 6. Angiocentric lymphoma 7. Intestinal T-cell lymphoma (+/− enteropathy associated) 8. Adult T-cell lymphoma/leukemia (ATL/L) 9. Anaplastic large-cell lymphoma, CD30+, T- and null-cell types 10. Provisional entity: Anaplastic large-cell lymphoma, Hodgkin’s-like d Hodgkin’s Disease (HD) 1. Lymphocyte predominance II. Nodular sclerosis III. Mixed cellularity IV. Lymphocyte depletion VI. Provisional: Lymphocyte-rich classical Hodgkin’s disease |
a Nomenclature changes in WHO 2001 from REAL classification b Provisional entities in REAL made definite in WHO 2001 | c These categories were thought to likely include more than one entity d Entities, including provisional, in REAL, deleted in WHO 2001 |
WHO 2008 Classification | WHO 2017 Classification |
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Precursor lymphoid neoplasms B-lymphoblastic leukemia/lymphoma, not otherwise specified B-lymphoblastic leukemia/lymphoma with t(9;22)(q34;q11.2); BCR::ABL1 B-lymphoblastic leukemia/lymphoma with t(v;11q23); MLL rearranged B-lymphoblastic leukemia/lymphoma with t(12;21)(p13;q22); ETV6::RUNX1 B-lymphoblastic leukemia/lymphoma with hyperdiploidy B-lymphoblastic leukemia/lymphoma with hypodiploidy B-lymphoblastic leukemia/lymphoma with t(5;14)(q31;q32); IL3::IGH B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3); TCF3::PBX1 T-lymphoblastic leukemia/lymphoma | Precursor lymphoid neoplasms B-lymphoblastic leukemia/lymphoma, not otherwise specified B-lymphoblastic leukemia/lymphoma with t(9;22)(q34;q11.2); BCR::ABL1 B-lymphoblastic leukemia/lymphoma with t(v;11q23);KMT2A rearranged B-lymphoblastic leukemia/lymphoma with t(12;21)(p13;q22); ETV6::RUNX1 B-lymphoblastic leukemia/lymphoma with hyperdiploidy B-lymphoblastic leukemia/lymphoma with hypodiploidy B-lymphoblastic leukemia/lymphoma with t(5;14)(q31;q32); IGH::IL3 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3); TCF3::PBX1 B-lymphoblastic leukemia/lymphoma, BCR::ABL1-like (provisional) a B-lymphoblastic leukemia/lymphoma with iAMP21 (provisional) a T-lymphoblastic leukemia/lymphoma Early T-cell-precursor-lymphoblastic leukemia (provisional) a Natural killer (NK)-lymphoblastic leukemia/lymphoma (provisional) a |
Mature B-Cell Neoplasms WHO 2001 [46] | Mature B-Cell Neoplasms WHO 2008 [47] | Mature B-Cell Neoplasms WHO 2017 [52] |
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Chronic lymphocytic leukemia/small lymphocytic leukemia B-cell prolymphocytic leukemia Lymphoplasmacytic lymphoma/Waldenström macroglobulinemia Splenic marginal zone lymphoma Hairy cell leukemia Plasma cell myeloma Monoclonal gammopathy of undetermined significance Solitary plasmacytoma of bone Primary amyloidosis Heavy chain diseases Extranodal marginal zone B-cell lymphoma of MALT Nodal marginal zone B-cell lymphoma Follicular lymphoma Mantle-cell lymphoma Diffuse large B-cell lymphoma Mediastinal (thymic) large B-cell lymphoma Intravascular large B-cell lymphoma Primary effusion lymphoma Burkitt lymphoma/leukemia Lymphomatoid granulomatosis | Chronic lymphocytic leukemia/small lymphocytic lymphoma B-cell prolymphocytic leukemia Splenic marginal zone lymphoma Hairy cell leukemia Splenic lymphoma/leukemia, unclassifiable (provisional) Splenic diffuse red pulp small B-cell lymphoma (provisional) Hairy cell leukemia variant (provisional) Lymphoplasmacytic lymphoma Waldenström macroglobulinemia a Heavy-chain diseases Alpha (α) heavy-chain disease Gamma (γ) heavy-chain disease Mu (μ) heavy-chain disease Plasma cell myeloma Solitary plasmacytoma of bone Extraosseous plasmacytoma a Extranodal marginal zone lymphoma of MALT Nodal marginal-zone lymphoma Pediatric nodal marginal-zone lymphoma (provisional) Follicular lymphoma Pediatric follicular lymphoma (provisional) Primary cutaneous follicle center lymphoma a Mantle cell lymphoma Diffuse large B-cell lymphoma (DLBCL), NOS a T-cell/histiocyte-rich large B-cell lymphoma a Primary DLBCL of the central nervous system (CNS) a Primary cutaneous DLBCL, leg type a EBV-positive DLBCL of the elderly (provisional) DLBCL associated with chronic inflammation a Lymphomatoid granulomatosis Primary mediastinal (thymic) large B-cell lymphoma b Intravascular large B-cell lymphoma ALK-positive large B-cell lymphoma a Plasmablastic lymphoma a Large B-cell lymphoma arising in HHV8-associated multicentric Castleman disease a Primary effusion lymphoma Burkitt lymphoma B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and Burkitt lymphoma a B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and classical Hodgkin lymphoma a | Chronic lymphocytic leukemia/small lymphocytic lymphoma B-cell prolymphocytic leukemia Monoclonal B-cell lymphocytosis, CLL-type a Monoclonal B-cell lymphocytosis, non-CLL-type a Splenic marginal-zone lymphoma Hairy cell leukemia Splenic lymphoma/leukemia, unclassifiable (provisional) Splenic diffuse red pulp small B-cell lymphoma (provisional) Hairy cell leukemia variant (provisional) Lymphoplasmacytic lymphoma Waldenström macroglobulinemia IgM monoclonal gammopathy of undetermined significance a Heavy-chain diseases Alpha (α) heavy-chain disease Gamma (γ) heavy-chain disease Mu (μ) heavy-chain disease Plasma cell neoplasms Non-IgM MGUS a Plasma cell myeloma Solitary plasmacytoma of bone Extraosseous plasmacytoma Monoclonal immunoglobulin deposition diseases Primary amyloidosis Light-chain and heavy-chain deposition diseases Extranodal marginal-zone lymphoma of MALT Nodal marginal-zone lymphoma Pediatric nodal marginal zone lymphoma (provisional) Follicular lymphoma In situ follicular neoplasia a Duodenal-type follicular lymphoma a Testicular follicular lymphoma a Pediatric-type follicular lymphoma a Large B-cell lymphoma with IRF4 rearrangement (provisional) Primary cutaneous follicle center lymphoma Mantle cell lymphoma In situ mantle cell neoplasia a Diffuse large B-cell lymphoma (DLBCL), NOS Germinal center B-cell subtype a Activated B-cell subtype a T-cell/histiocyte rich large B-cell lymphoma Primary DLBCL of the central nervous system (CNS) Primary cutaneous DLBCL, leg type EBV-positive DLBCL, NOS b EBV-positive mucocutaneous ulcer (provisional) DLBCL associated with chronic inflammation Fibrin-associated DLBCL a Lymphomatoid granulomatosis, grade 1,2 Lymphomatoid granulomatosis, grade 3 Primary mediastinal (thymic) large B-cell lymphoma Intravascular large B-cell lymphoma ALK-positive large B-cell lymphoma Plasmablastic lymphoma Primary effusion lymphoma Multicentric Castleman disease HHV8-positive DLBCL, NOS (provisional) HHV8-positive germinotrophic lymphoproliferative disorder a Burkitt lymphoma Burkitt-like lymphoma with chromosome 11q aberration (provisional) High-grade B-cell lymphoma a High-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements a High-grade B-cell lymphoma, NOS a B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and classic Hodgkin lymphoma |
Mature T-Cell and NK-Cell Neoplasms and Hodgkin Lymphoma WHO 2001 [46] | Mature T-Cell and NK-Cell Neoplasms and Hodgkin Lymphoma WHO 2008 [47] | Mature T- and NK-Cell Neoplasms and Hodgkin Lymphoma WHO 2017 [52] |
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Mature T-cell and NK-cell neoplasms T-cell prolymphocytic leukemia T-cell large granular lymphocytic leukemia Aggressive NK-cell leukemia Adult T-cell leukemia/lymphoma Extranodal NK/T-cell lymphoma, nasal type Enteropathy-type T-cell lymphoma Hepatosplenic γδ T-cell lymphoma Subcutaneous panniculitis-like T-cell lymphoma Blastic NK-cell lymphoma Mycosis fungoides/Sezary syndrome Primary cutaneous CD30 positive T-cell lymphoproliferative disorders Primary cutaneous anaplastic large-cell lymphoma Lymphomatoid papulosis Angioimmunoblastic T-cell lymphoma Peripheral T-cell lymphoma, unspecified Anaplastic large cell lymphoma Hodgkin lymphoma Nodular lymphocyte-predominant Hodgkin lymphoma Classical Hodgkin lymphoma Nodular sclerosis Hodgkin lymphoma Mixed-cellularity Hodgkin lymphoma Lymphocyte-rich classical Hodgkin lymphoma Lymphocyte-depleted Hodgkin lymphoma | Mature T-cell and NK-cell neoplasms T-cell prolymphocytic leukemia T-cell large granular lymphocytic leukemia Chronic lymphoproliferative disorder of NK cells (provisional) Aggressive NK-cell leukemia Systemic EBV-positive T-cell lymphoproliferative disease of childhood a Hydroa vacciniforme-like lymphoma a Adult T-cell leukemia/lymphoma Extranodal NK/T-cell lymphoma, nasal type Enteropathy-associated T-cell lymphoma Hepatosplenic T-cell lymphoma Subcutaneous panniculitis-like T-cell lymphoma Mycosis fungoides Sézary syndrome Primary cutaneous CD30+ T-cell lymphoproliferative disorders Lymphomatoid papulosis Primary cutaneous anaplastic large-cell lymphoma Primary cutaneous gamma delta (γδ) T-cell lymphoma Primary cutaneous CD8+ aggressive epidermotropic cytotoxic T-cell lymphoma (provisional) Primary cutaneous CD4+ small/medium T-cell lymphoma (provisional) Peripheral T-cell lymphoma, not otherwise specified a Angioimmunoblastic T-cell lymphoma Anaplastic large cell lymphoma, ALK-positive a Anaplastic large cell lymphoma, ALK-negative (provisional) Hodgkin lymphoma Nodular lymphocyte-predominant Hodgkin lymphoma Classical Hodgkin lymphoma Nodular sclerosis classical Hodgkin lymphoma Lymphocyte-rich classical Hodgkin lymphoma Mixed-cellularity classical Hodgkin lymphoma Lymphocyte-depleted classical Hodgkin lymphoma | Mature T and NK neoplasms T-cell prolymphocytic leukemia T-cell large granular lymphocytic leukemia Chronic lymphoproliferative disorder of NK cells (provisional) Aggressive NK-cell leukemia Systemic EBV positive T-cell lymphoma of childhood a Hydroa vacciniforme-like lymphoproliferative disorder a Adult T-cell leukemia/lymphoma Extranodal NK/T-cell lymphoma, nasal type Enteropathy associated T-cell lymphoma Monomorphic epitheliotropic intestinal T-cell lymphoma a Indolent T-cell lymphoproliferative disorder of the gastrointestinal tract (provisional) Hepatosplenic T-cell lymphoma Subcutaneous panniculitis-like T-cell lymphoma Mycosis fungoides Sézary syndrome Primary cutaneous CD30+ T-cell lymphoproliferative disorders Lymphomatoid papulosis Primary cutaneous anaplastic large cell lymphoma Primary cutaneous gamma delta (γδ) T-cell lymphoma Primary cutaneous CD8+ aggressive epidermotropic cytotoxic T-cell lymphoma (provisional) Primary cutaneous acral CD8+ T-cell lymphoma (provisional) Primary cutaneous CD4+ small/medium T-cell lymphoproliferative disorder (provisional) Peripheral T-cell lymphoma, not otherwise specified Angioimmunoblastic T-cell lymphoma Follicular T-cell lymphoma (provisional) Nodal peripheral T-cell lymphoma with T-follicular helper (TFH) phenotype (provisional) Anaplastic large-cell lymphoma, ALK-positive Anaplastic large-cell lymphoma, ALK-negative a Breast-implant-associated anaplastic large-cell lymphoma (provisional) Hodgkin lymphoma Nodular lymphocyte-predominant Hodgkin lymphoma Classic Hodgkin lymphoma (same subtypes as in 2008) |
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Kansal, R. Diagnosis and Molecular Pathology of Lymphoblastic Leukemias and Lymphomas in the Era of Genomics and Precision Medicine: Historical Evolution and Current Concepts—Part 1: Lymphoid Neoplasms. Lymphatics 2023, 1, 55-76. https://doi.org/10.3390/lymphatics1020007
Kansal R. Diagnosis and Molecular Pathology of Lymphoblastic Leukemias and Lymphomas in the Era of Genomics and Precision Medicine: Historical Evolution and Current Concepts—Part 1: Lymphoid Neoplasms. Lymphatics. 2023; 1(2):55-76. https://doi.org/10.3390/lymphatics1020007
Chicago/Turabian StyleKansal, Rina. 2023. "Diagnosis and Molecular Pathology of Lymphoblastic Leukemias and Lymphomas in the Era of Genomics and Precision Medicine: Historical Evolution and Current Concepts—Part 1: Lymphoid Neoplasms" Lymphatics 1, no. 2: 55-76. https://doi.org/10.3390/lymphatics1020007