Bản sửa đổi năm 2016 đối với phân loại các bệnh u của Tổ chức Y tế Thế giới về các khối u tủy và bạch cầu cấp tính
Tóm tắt
Phân loại của Tổ chức Y tế Thế giới (WHO) về các khối u của các mô huyết học và bạch huyết lần cuối được cập nhật vào năm 2008. Kể từ đó, đã có nhiều tiến bộ trong việc xác định các dấu hiệu sinh học độc đáo liên quan đến một số khối u tủy và bạch cầu cấp tính, chủ yếu xuất phát từ phân tích diễn giải gen và giải trình tự thế hệ tiếp theo, có thể cải thiện đáng kể tiêu chí chẩn đoán cũng như độ liên quan về tiên lượng của các thực thể hiện đang được bao gồm trong phân loại của WHO và cũng gợi ý về những thực thể mới cần được thêm vào. Do đó, có một nhu cầu rõ ràng về việc sửa đổi phân loại hiện tại. Các sửa đổi đối với các danh mục bệnh u tủy và bạch cầu cấp tính sẽ được công bố trong một tài liệu riêng vào năm 2016 và phản ánh sự đồng thuận ý kiến của các nhà bệnh học huyết học, huyết học học, bác sĩ ung bướu và bác sĩ di truyền học. Ấn bản năm 2016 đại diện cho một sự sửa đổi của phân loại trước đó hơn là một phân loại hoàn toàn mới và cố gắng kết hợp các dữ liệu lâm sàng, tiên lượng, hình thái, miễn dịch định danh và di truyền mới nổi lên kể từ ấn bản trước. Các thay đổi lớn trong phân loại và lý do của chúng được trình bày ở đây.
Từ khóa
#Phân loại WHO #khối u huyết học #khối u tủy #bạch cầu cấp tính #sinh học phân tửTài liệu tham khảo
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O’Brien, 2014, Chronic myelogenous leukemia, version 1.2015., J Natl Compr Canc Netw, 12, 1590, 10.6004/jnccn.2014.0159
Baccarani, 2013, European LeukemiaNet recommendations for the management of chronic myeloid leukemia: 2013., Blood, 122, 872, 10.1182/blood-2013-05-501569
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Tefferi, 2014, Long-term survival and blast transformation in molecularly annotated essential thrombocythemia, polycythemia vera, and myelofibrosis., Blood, 124, 2507, 10.1182/blood-2014-05-579136
Tefferi, 2014, An overview on CALR and CSF3R mutations and a proposal for revision of WHO diagnostic criteria for myeloproliferative neoplasms., Leukemia, 28, 1407, 10.1038/leu.2014.35
Maxson, 2013, Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML., N Engl J Med, 368, 1781, 10.1056/NEJMoa1214514
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Madelung, 2013, World Health Organization-defined classification of myeloproliferative neoplasms: morphological reproducibility and clinical correlations--the Danish experience., Am J Hematol, 88, 1012, 10.1002/ajh.23554
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Gianelli, 2014, Reproducibility of the WHO histological criteria for the diagnosis of Philadelphia chromosome-negative myeloproliferative neoplasms., Mod Pathol, 27, 814, 10.1038/modpathol.2013.196
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Patterer, 2013, Hematologic malignancies with PCM1-JAK2 gene fusion share characteristics with myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1., Ann Hematol, 92, 759, 10.1007/s00277-013-1695-3
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Mughal, 2015, An International MDS/MPN Working Group’s perspective and recommendations on molecular pathogenesis, diagnosis and clinical characterization of myelodysplastic/myeloproliferative neoplasms., Haematologica, 100, 1117, 10.3324/haematol.2014.114660
Itzykson, 2013, Prognostic score including gene mutations in chronic myelomonocytic leukemia., J Clin Oncol, 31, 2428, 10.1200/JCO.2012.47.3314
Meggendorfer, 2013, SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations., Leukemia, 27, 1852, 10.1038/leu.2013.133
Patnaik, 2016, Cytogenetic and molecular abnormalities in chronic myelomonocytic leukemia., Blood Cancer J, 6, e393, 10.1038/bcj.2016.5
Jaiswal, 2014, Age-related clonal hematopoiesis associated with adverse outcomes., N Engl J Med, 371, 2488, 10.1056/NEJMoa1408617
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Storniolo, 1990, Chronic myelomonocytic leukemia., Leukemia, 4, 766
Boiocchi, 2013, Development of monocytosis in patients with primary myelofibrosis indicates an accelerated phase of the disease., Mod Pathol, 26, 204, 10.1038/modpathol.2012.165
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Wang, 2014, Atypical chronic myeloid leukemia is clinically distinct from unclassifiable myelodysplastic/myeloproliferative neoplasms., Blood, 123, 2645, 10.1182/blood-2014-02-553800
Piazza, 2013, Recurrent SETBP1 mutations in atypical chronic myeloid leukemia., Nat Genet, 45, 18, 10.1038/ng.2495
Gambacorti-Passerini, 2015, Recurrent ETNK1 mutations in atypical chronic myeloid leukemia., Blood, 125, 499, 10.1182/blood-2014-06-579466
Malcovati, 2011, Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms., Blood, 118, 6239, 10.1182/blood-2011-09-377275
Papaemmanuil, 2011, Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts., N Engl J Med, 365, 1384, 10.1056/NEJMoa1103283
Bejar, 2012, Validation of a prognostic model and the impact of mutations in patients with lower-risk myelodysplastic syndromes., J Clin Oncol, 30, 3376, 10.1200/JCO.2011.40.7379
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Germing, 2012, Evaluation of dysplasia through detailed cytomorphology in 3156 patients from the Düsseldorf Registry on myelodysplastic syndromes., Leuk Res, 36, 727, 10.1016/j.leukres.2012.02.014
Maassen, 2013, Validation and proposals for a refinement of the WHO 2008 classification of myelodysplastic syndromes without excess of blasts., Leuk Res, 37, 64, 10.1016/j.leukres.2012.09.021
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Parmentier, 2012, Assessment of dysplastic hematopoiesis: lessons from healthy bone marrow donors., Haematologica, 97, 723, 10.3324/haematol.2011.056879
Della Porta, 2015, Minimal morphological criteria for defining bone marrow dysplasia: a basis for clinical implementation of WHO classification of myelodysplastic syndromes., Leukemia, 29, 66, 10.1038/leu.2014.161
Greenberg, 2012, Revised international prognostic scoring system for myelodysplastic syndromes., Blood, 120, 2454, 10.1182/blood-2012-03-420489
Vardiman, 2009, The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes., Blood, 114, 937, 10.1182/blood-2009-03-209262
Germing, 2012, Survival, prognostic factors and rates of leukemic transformation in 381 untreated patients with MDS and del(5q): a multicenter study., Leukemia, 26, 1286, 10.1038/leu.2011.391
Mallo, 2011, Impact of adjunct cytogenetic abnormalities for prognostic stratification in patients with myelodysplastic syndrome and deletion 5q., Leukemia, 25, 110, 10.1038/leu.2010.231
Schanz, 2012, New comprehensive cytogenetic scoring system for primary myelodysplastic syndromes (MDS) and oligoblastic acute myeloid leukemia after MDS derived from an international database merge., J Clin Oncol, 30, 820, 10.1200/JCO.2011.35.6394
Papaemmanuil, 2013, Clinical and biological implications of driver mutations in myelodysplastic syndromes., Blood, 122, 3616, 10.1182/blood-2013-08-518886
Haferlach, 2014, Landscape of genetic lesions in 944 patients with myelodysplastic syndromes., Leukemia, 28, 241, 10.1038/leu.2013.336
Steensma, 2015, Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes., Blood, 126, 9, 10.1182/blood-2015-03-631747
Kwok, 2015, MDS-associated somatic mutations and clonal hematopoiesis are common in idiopathic cytopenias of undetermined significance., Blood, 126, 2355, 10.1182/blood-2015-08-667063
Cargo, 2015, Targeted sequencing identifies patients with preclinical MDS at high risk of disease progression., Blood, 126, 2362, 10.1182/blood-2015-08-663237
Bejar, 2011, Clinical effect of point mutations in myelodysplastic syndromes., N Engl J Med, 364, 2496, 10.1056/NEJMoa1013343
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Saft, 2014, p53 protein expression independently predicts outcome in patients with lower-risk myelodysplastic syndromes with del(5q)., Haematologica, 99, 1041, 10.3324/haematol.2013.098103
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Malcovati, 2015, SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts., Blood, 126, 233, 10.1182/blood-2015-03-633537
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Gröschel, 2014, A single oncogenic enhancer rearrangement causes concomitant EVI1 and GATA2 deregulation in leukemia., Cell, 157, 369, 10.1016/j.cell.2014.02.019
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Wouters, 2009, Double CEBPA mutations, but not single CEBPA mutations, define a subgroup of acute myeloid leukemia with a distinctive gene expression profile that is uniquely associated with a favorable outcome., Blood, 113, 3088, 10.1182/blood-2008-09-179895
Pabst, 2009, Heterogeneity within AML with CEBPA mutations; only CEBPA double mutations, but not single CEBPA mutations are associated with favourable prognosis., Br J Cancer, 100, 1343, 10.1038/sj.bjc.6604977
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Hollink, 2011, Characterization of CEBPA mutations and promoter hypermethylation in pediatric acute myeloid leukemia., Haematologica, 96, 384, 10.3324/haematol.2010.031336
Falini, 2010, Multilineage dysplasia has no impact on biologic, clinicopathologic, and prognostic features of AML with mutated nucleophosmin (NPM1)., Blood, 115, 3776, 10.1182/blood-2009-08-240457
Díaz-Beyá, 2010, The prognostic value of multilineage dysplasia in de novo acute myeloid leukemia patients with intermediate-risk cytogenetics is dependent on NPM1 mutational status., Blood, 116, 6147, 10.1182/blood-2010-09-307314
Bacher, 2012, Multilineage dysplasia does not influence prognosis in CEBPA-mutated AML, supporting the WHO proposal to classify these patients as a unique entity., Blood, 119, 4719, 10.1182/blood-2011-12-395574
Schnittger, 2011, RUNX1 mutations are frequent in de novo AML with noncomplex karyotype and confer an unfavorable prognosis., Blood, 117, 2348, 10.1182/blood-2009-11-255976
Tang, 2009, AML1/RUNX1 mutations in 470 adult patients with de novo acute myeloid leukemia: prognostic implication and interaction with other gene alterations., Blood, 114, 5352, 10.1182/blood-2009-05-223784
Mendler, 2012, RUNX1 mutations are associated with poor outcome in younger and older patients with cytogenetically normal acute myeloid leukemia and with distinct gene and MicroRNA expression signatures., J Clin Oncol, 30, 3109, 10.1200/JCO.2011.40.6652
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Haferlach, 2009, AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features., Blood, 114, 3024, 10.1182/blood-2009-01-197871
Schlenk, 2013, The value of allogeneic and autologous hematopoietic stem cell transplantation in prognostically favorable acute myeloid leukemia with double mutant CEBPA., Blood, 122, 1576, 10.1182/blood-2013-05-503847
Churpek, 2016, Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia., Cancer, 122, 304, 10.1002/cncr.29615
Walter, 2013, Significance of FAB subclassification of “acute myeloid leukemia, NOS” in the 2008 WHO classification: analysis of 5848 newly diagnosed patients., Blood, 121, 2424, 10.1182/blood-2012-10-462440
Zuo, 2012, Acute myeloid leukemia (AML) with erythroid predominance exhibits clinical and molecular characteristics that differ from other types of AML., PLoS One, 7, e41485, 10.1371/journal.pone.0041485
Grossmann, 2013, Acute erythroid leukemia (AEL) can be separated into distinct prognostic subsets based on cytogenetic and molecular genetic characteristics., Leukemia, 27, 1940, 10.1038/leu.2013.144
Porwit, 2011, Acute myeloid leukemia with expanded erythropoiesis., Haematologica, 96, 1241, 10.3324/haematol.2011.050526
Hasserjian, 2010, Acute erythroid leukemia: a reassessment using criteria refined in the 2008 WHO classification., Blood, 115, 1985, 10.1182/blood-2009-09-243964
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Matutes, 2011, Mixed-phenotype acute leukemia: clinical and laboratory features and outcome in 100 patients defined according to the WHO 2008 classification., Blood, 117, 3163, 10.1182/blood-2010-10-314682
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Kawajiri, 2014, Successful treatment of Philadelphia chromosome-positive mixed phenotype acute leukemia by appropriate alternation of second-generation tyrosine kinase inhibitors according to BCR-ABL1 mutation status., Int J Hematol, 99, 513, 10.1007/s12185-014-1531-0
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Holmfeldt, 2013, The genomic landscape of hypodiploid acute lymphoblastic leukemia., Nat Genet, 45, 242, 10.1038/ng.2532
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Mullighan, 2009, Deletion of IKZF1 and prognosis in acute lymphoblastic leukemia., N Engl J Med, 360, 470, 10.1056/NEJMoa0808253
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Roberts, 2012, Genetic alterations activating kinase and cytokine receptor signaling in high-risk acute lymphoblastic leukemia., Cancer Cell, 22, 153, 10.1016/j.ccr.2012.06.005
Harvey, 2010, Rearrangement of CRLF2 is associated with mutation of JAK kinases, alteration of IKZF1, Hispanic/Latino ethnicity, and a poor outcome in pediatric B-progenitor acute lymphoblastic leukemia., Blood, 115, 5312, 10.1182/blood-2009-09-245944
Roberts, 2014, Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia., N Engl J Med, 371, 1005, 10.1056/NEJMoa1403088
Weston, 2013, Tyrosine kinase inhibitor therapy induces remission in a patient with refractory EBF1-PDGFRB-positive acute lymphoblastic leukemia., J Clin Oncol, 31, e413, 10.1200/JCO.2012.47.6770
Meijerink, 2010, Genetic rearrangements in relation to immunophenotype and outcome in T-cell acute lymphoblastic leukaemia., Best Pract Res Clin Haematol, 23, 307, 10.1016/j.beha.2010.08.002
Ohgami, 2013, Indolent T-lymphoblastic proliferation (iT-LBP): a review of clinical and pathologic features and distinction from malignant T-lymphoblastic lymphoma., Adv Anat Pathol, 20, 137, 10.1097/PAP.0b013e31828d17ec
Coustan-Smith, 2009, Early T-cell precursor leukaemia: a subtype of very high-risk acute lymphoblastic leukaemia., Lancet Oncol, 10, 147, 10.1016/S1470-2045(08)70314-0
Neumann, 2013, Whole-exome sequencing in adult ETP-ALL reveals a high rate of DNMT3A mutations., Blood, 121, 4749, 10.1182/blood-2012-11-465138
Neumann, 2013, FLT3 mutations in early T-cell precursor ALL characterize a stem cell like leukemia and imply the clinical use of tyrosine kinase inhibitors., PLoS One, 8, e53190, 10.1371/journal.pone.0053190
Zhang, 2012, The genetic basis of early T-cell precursor acute lymphoblastic leukaemia., Nature, 481, 157, 10.1038/nature10725
Inukai, 2012, Clinical significance of early T-cell precursor acute lymphoblastic leukaemia: results of the Tokyo Children’s Cancer Study Group Study L99-15., Br J Haematol, 156, 358, 10.1111/j.1365-2141.2011.08955.x
Patrick, 2014, Outcome for children and young people with Early T-cell precursor acute lymphoblastic leukaemia treated on a contemporary protocol, UKALL 2003., Br J Haematol, 166, 421, 10.1111/bjh.12882
Wood, 2014, T-lymphoblastic leukemia (T-ALL) shows excellent outcome, lack of significance of the early thymic precursor (ETP) immunophenotype, and validation of the prognostic value of end-induction minimal residual disease (MRD) in Children’s Oncology Group (COG) Study AALL0434 [abstract]., Blood, 124, 1, 10.1182/blood.V124.21.1.1