Diagnostic Approach for Double-Hit and Triple-Hit Lymphoma Based on Immunophenotypic and Cytogenetic Characteristics of Bone Marrow Specimens
2
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
Background: High-grade B-cell lymphoma with rearrangements of MYC and BCL2 and/or BCL6 (BCL2/BCL6), also known as double-hit lymphoma (DHL) and/or triple-hit lymphoma (THL), is a new entity of B-cell lymphoma in the 2017 WHO Classification. We retrospectively investigated D/THL and their clinico-laboratory features among cases of large B-cell lymphoma involving the bone marrow (BM), including diffuse large B-cell lymphoma, Burkitt lymphoma, and B-cell lymphomas with medium to large lymphoid cells, by additional FISH analysis of BM aspirates. Methods: A total of 111 patients diagnosed with aggressive B-cell lymphomas or B-cell lymphoma involving the BM with medium to large-sized malignant lymphocytes were reviewed from January 2000 to January 2018. Patients with available BM aspirates were evaluated by immunophenotyping by flow cytometry, chromosome, and FISH analysis for MYC and/or BCL2/BCL6 rearrangements. Results: In total, 23/111 (20.7%) showed MYC rearrangement, and eight (7.2%) were reclassified as D/THL on BM after FISH analysis for MYC and BCL2/BCL6. The detection of CD5(-)/CD10(+) based on flow cytometry was strongly associated with D/THL. A complex karyotype with aberrations related to regions in MYC and BCL2/BCL6 was significantly associated with D/THL. When the MYC FISH results of 28 BM aspirates and formalin-fixed paraffin-embedded tissue specimens were compared, 14% were discrepant. Conclusions: Immunophenotypic and cytogenetic characteristics facilitate the diagnosis of D/THL in the cases with BM-involving aggressive B-cell lymphomas.
Abstract
Background: High-grade B-cell lymphoma with rearrangements of MYC and BCL2 and/or BCL6 (BCL2/BCL6), also known as double-hit lymphoma (DHL) and/or triple-hit lymphoma (THL), is a new entity of B-cell lymphoma in the 2017 WHO Classification. We retrospectively investigated D/THL and their clinico-laboratory features among cases of large B-cell lymphoma involving the bone marrow (BM), including diffuse large B-cell lymphoma, Burkitt lymphoma, and B-cell lymphomas with medium to large lymphoid cells, by additional FISH analysis of BM aspirates. Methods: A total of 111 patients diagnosed with aggressive B-cell lymphomas or B-cell lymphoma involving the BM with medium to large-sized malignant lymphocytes were reviewed from January 2000 to January 2018. Patients with available BM aspirates were evaluated by immunophenotyping by flow cytometry, chromosome, and FISH analysis for MYC and/or BCL2/BCL6 rearrangements. Results: In total, 23/111 (20.7%) showed MYC rearrangement, and eight (7.2%) were reclassified as D/THL on BM after FISH analysis for MYC and BCL2/BCL6. The detection of CD5(-)/CD10(+) based on flow cytometry was strongly associated with D/THL. A complex karyotype with aberrations related to regions in MYC and BCL2/BCL6 was significantly associated with D/THL. When the MYC FISH results of 28 BM aspirates and formalin-fixed paraffin-embedded tissue specimens were compared, 14% were discrepant. Conclusions: Immunophenotypic and cytogenetic characteristics facilitate the diagnosis of D/THL in the cases with BM-involving aggressive B-cell lymphomas.
참고문헌 (36)
- Swerdlow SH, "WHO classification of tumours of haematopoietic and lymphoid tissues", pp.335~341 (2017), International Agency for Research on Cancer
- Campo E, "The 2008 WHO classification of lymphoid neoplasms and beyond : evolving concepts and practical applications", Blood, 117, pp.5019~5032 (2011)
- Said JW, "Aggressive B-cell lymphomas : how many categories do we need", Mod Pathol, 26, pp.S42~S56 (2013)
- Lindsley RC, "Biology of double-hit B-cell lymphomas", Curr Opin Hematol, 19, pp.299~304 (2012)
- Snuderl M, "B-cell lymphomas with concurrent IGH-BCL2 and MYC rearrangements are aggressive neoplasms with clinical and pathologic features distinct from Burkitt lymphoma and diffuse large B-cell lymphoma", Am J Surg Pathol, 34, pp.327~340 (2010)
- Oki Y, "Double hit lymphoma: the MD Anderson Cancer Center clinical experience", Br J Haematol, 166, pp.891~901 (2014)
- Li S, "B-cell lymphomas with MYC", 8q24 rearrangements and IGH@BCL2, Mod Pathol, pp.2012, 25[DOI]
- Merron B, "Double hit lymphoma: how do we define it and how do we treat it?", Best Pract Res Clin Haematol, 31, pp.233~240 (2018)
- Carbone A, "Diffuse large B cell lymphoma : using pathologic and molecular biomarkers to define subgroups for novel therapy", Ann Hematol, 93, pp.1263~1277 (2014)
- Friedberg JW, "How I treat double-hit lymphoma", Blood, 130, pp.590~596 (2017)
- Nabhan C, "Emerging strategies in treating double hit lymphomas", Clin Lymphoma Myeloma Leuk, 17, pp.563~568 (2017)
- Sakr H, "Identification of “Double Hit” lymphomas using updated WHO criteria: insights from routine MYC immunohistochemistry in 272 consecutive cases of aggressive B-cell lymphomas", Appl Immunohistochem Mol Morphol, 27, pp.410~415 (2019)
- Sesques P, "Approach to the diagnosis and treatment of high-grade B-cell lymphomas with MYC and BCL2 and", or BCL6 rearrangements, 2017, pp.129, 280~288
- Aukema SM, "Double-hit B-cell lymphomas", Blood, 117, pp.2319~2331 (2011)
- Scott DW, "High-grade B-cell lymphoma with MYC and BCL2 and", or BCL6 rearrangements with diffuse large B-cell lymphoma morphology, 2018, pp.131, 2060~2064
- Zelenetz AD, "Diffuse large B-Cell lymphoma version 1.2016", J Natl Compr Canc Netw, 14, pp.196~231 (2016)
- Bain BJ, "Bone marrow trephine biopsy", J Clin Pathol, 54, pp.737~742 (2001)
- Talaulikar D, "Staging bone marrow in diffuse large B-cell lymphoma: the role of ancillary investigations", Pathology, 41, pp.214~222 (2009)
- Lee SH, "ICSH guidelines for the standardization of bone marrow specimens and reports", Int J Lab Hematol, 30, pp.349~364 (2008)
- Mazur G, "Contribution of flow cytometric immunophenotyping and bone marrow trephine biopsy in the detection of lymphoid bone marrow infiltration in non-Hodgkin’s lymphomas", Neoplasma, 51, pp.159~163 (2004)
- 김보람, "Bone Marrow Flow Cytometry in Staging of Patients With B-cell Non-Hodgkin Lymphoma", Annals of Laboratory Medicine, 35(2), pp.187~193 (2015), 대한진단검사의학회
- Morice WG, "Predictive value of blood and bone marrow flow cytometry in B-cell lymphoma classification: comparative analysis of flow cytometry and tissue biopsy in 252 patients", Mayo Clin Proc, 83, pp.776~785 (2008)
- Hans CP, "Confirmation of the molecular classification of diffuse large B-cell lymphoma by immunohistochemistry using a tissue microarray", Blood, 103, pp.275~282 (2004)
- Jaffe ES, "WHO classification of tumours of haematopoietic and lymphoid tissues", pp.190~198 (2017), International Agency for Research on Cancer
- Dorfman DM, "Clinical flow cytometry : state-of-the-art and new approaches", Clin Lab Med, pp.13~14 (2017)
- Wu D, "‘Double-Hit’ mature B-cell lymphomas show a common immunophenotype by flow cytometry that includes decreased CD20 expression", Am J Clin Pathol, 134, pp.258~265 (2010)
- Roth CG, "Flow cytometric evaluation of double", triple hit lymphoma, 2016, pp.23, 137~146
- Schniederjan SD, "A novel flow cytometric antibody panel for distinguishing Burkitt lymphoma from CD10+ diffuse large B-cell lymphoma", Am J Clin Pathol, 133, pp.718~726 (2010)
- Copie-Bergman C, "MYC-IG rearrangements are negative predictors of survival in DLBCL patients treated with immunochemotherapy : a GELA", LYSA study, 2015, pp.126, 2466~2474
- de Jonge AV, "Diffuse large B-cell lymphoma with MYC gene rearrangements: current perspective on treatment of diffuse large B-cell lymphoma with MYC gene rearrangements; case series and review of the literature", Eur J Cancer, 55, pp.140~146 (2016)
- Landsburg DJ, "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, 175, pp.631~640 (2016)
- Ventura RA, "FISH analysis for the detection of lymphoma-associated chromosomal abnormalities in routine paraffin-embedded tissue", J Mol Diagn, 8, pp.141~151 (2006)
- May PC, "Detection of cryptic and variant IGH-MYC rearrangements in high-grade non-Hodgkin’s lymphoma by fluorescence in situ hybridization: implications for cytogenetic testing", Cancer Genet Cytogenet, 198, pp.71~75 (2010)
- Muñoz-Mármol AM, "MYC status determination in aggressive B-cell lymphoma : the impact of FISH probe selection", Histopathology, 63, pp.418~424 (2013)
- Chong LC, "High-resolution architecture and partner genes of MYC rearrangements in lymphoma with DLBCL morphology", Blood Adv, 2, pp.2755~2765 (2018)
- Sarkozy C, "Double-hit and double-protein-expression lymphomas: aggressive and refractory lymphomas", Lancet Oncol, 16, pp.e555~e567 (2015)
