Revised World Health Organization Criteria-Defined Acute Myeloid Leukemia in a Large Cohort: Highlighting the Frequency and Characterization of Recategorized Cases
1
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
Background: Application of the 2016 revised WHO criteria for categorization of acute myeloid leukemia (AML) highlights certain discrepancies from that of the 2008 WHO criteria. We thus analyzed the frequency, categorization patterns, and features of discrepant cases, and characterized the AML subtypes that had undergone major changes under the revised criteria. Methods: We divided the patients into the following seven categories based on the previous and the revised WHO criteria: AML with recurrent genetic abnormalities (RGA), AML with myelodysplasia-related changes (MRC), therapy-related AML, AML not otherwise specified (NOS), AML associated with Down syndrome, AML with subcategory not determined, and myelodysplastic syndrome (MDS). Results: In total, 1,185 AML cases were reviewed. The concordance rate in categorization between the two criteria was 93.4%. Among 78 discrepant cases, the three most common discrepancy patterns were for the RGA to NOS, MRC to MDS, and MRC to RGA, representing cases with a single mutation in CEBPA, erythroleukemia, and recurrent genetic abnormalities showing myelodysplasia, respectively. We identified three cases of erythroleukemia harboring an NPM1 mutation, who might clinically benefit from chemotherapy rather than MDS-oriented treatment; we also found AML with del(9q) in 3% of patients, which might contribute to leukemogenesis either via haploinsufficiency of deleted genes or gene-to-gene interaction. Conclusions: This study revealed that approximately 7% of patients with AML were reclassified into a different category due to the introduction of new entities, changed definitions, and refined subcategorization. Therefore, further refinement should be considered during the next revision.
Abstract
Background: Application of the 2016 revised WHO criteria for categorization of acute myeloid leukemia (AML) highlights certain discrepancies from that of the 2008 WHO criteria. We thus analyzed the frequency, categorization patterns, and features of discrepant cases, and characterized the AML subtypes that had undergone major changes under the revised criteria. Methods: We divided the patients into the following seven categories based on the previous and the revised WHO criteria: AML with recurrent genetic abnormalities (RGA), AML with myelodysplasia-related changes (MRC), therapy-related AML, AML not otherwise specified (NOS), AML associated with Down syndrome, AML with subcategory not determined, and myelodysplastic syndrome (MDS). Results: In total, 1,185 AML cases were reviewed. The concordance rate in categorization between the two criteria was 93.4%. Among 78 discrepant cases, the three most common discrepancy patterns were for the RGA to NOS, MRC to MDS, and MRC to RGA, representing cases with a single mutation in CEBPA, erythroleukemia, and recurrent genetic abnormalities showing myelodysplasia, respectively. We identified three cases of erythroleukemia harboring an NPM1 mutation, who might clinically benefit from chemotherapy rather than MDS-oriented treatment; we also found AML with del(9q) in 3% of patients, which might contribute to leukemogenesis either via haploinsufficiency of deleted genes or gene-to-gene interaction. Conclusions: This study revealed that approximately 7% of patients with AML were reclassified into a different category due to the introduction of new entities, changed definitions, and refined subcategorization. Therefore, further refinement should be considered during the next revision.
참고문헌 (26)
- Swerdlow SH, "WHO classification of tumours of haematopoietic and lymphoid tissues", International Agency for Research on Cancer, 129~171 (2017)
- Leonard JP, "Practical implications of the 2016 revision of the World Health Organization classification of lymphoid and myeloid neoplasms and acute leukemia", J Clin Oncol, 35, pp.2708~2715 (2017)
- Arber DA, "The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia", Blood, 127, pp.2391~2405 (2016)
- Chen Y, "Re-evaluation of acute erythroid leukemia according to the 2016WHO classification", Leuk Res, 61, pp.39~43 (2017)
- Toth LN, "Impact of molecular sequencing information as related to 2008 and 2016 World Health Organization classification of acute myeloid leukemia and myelodysplasia", Arch Pathol Lab Med, 142, pp.1017~ (2018)
- Margolskee E, "A reevaluation of erythroid predominance in acute myeloid leukemia using the updated WHO 2016 criteria", Mod Pathol, 31, pp.873~880 (2018)
- Ryu S, "Shifting of erythroleukemia to myelodysplastic syndrome according to the revised WHO classification : biologic and cytogenetic features of shifted erythroleukemia", Leuk Res, 70, pp.13~19 (2018)
- 정진, "Reclassification of Acute Myeloid Leukemia According to the 2016 WHO Classification", Annals of Laboratory Medicine, 39(3), pp.311~316 (2019), 대한진단검사의학회[DOI]
- Kansal R, "Classification of acute myeloid leukemia by the revised fourth edition World Health Organization criteria: a retrospective single-institution study with appraisal of the new entities of acute myeloid leukemia with gene mutations in NPM1 and biallelic CEBPA", Hum Pathol, 90, pp.80~96 (2019)
- Huang Q, "A rapid, one step assay for simultaneous detection of FLT3", ITD and NPM1mutations in AML with normal cytogenetics, 2008, pp.142, 489~492
- Falini B, "Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype", N Engl J Med, 352, pp.254~266 (2005)
- Wouters BJ, "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, pp.3088~3091 (2009)
- Döhner H, "Diagnosis and management of AML in adults : 2017 ELN recommendations from an international expert panel", Blood, 129, pp.424~447 (2017)
- McGowan-Jordan J, "An international system for human cytogenomic nomenclature (2016)" (2016), S. Karger Publishers, Inc
- Bhatt VR, "Allogeneic stem cell transplantation for Philadelphia chromosomepositive acute myeloid leukemia", J Natl Compr Canc Netw, 12, pp.963~968 (2014)
- Konoplev S, "Molecular characterization of de novo Philadelphia chromosome-positive acute myeloid leukemia", Leuk Lymphoma, 54, pp.138~144 (2013)
- Schnittger S, "Characterization of NPM1-mutated AML with a history of myelodysplastic syndromes or myeloproliferative neoplasms", Leukemia, 25, pp.615~621 (2011)
- Lin P, "Acute myeloid leukemia with recurrent genetic abnormalities other than translocations", Am J Clin Pathol, 144, pp.19~28 (2015)
- Peniket A, "Del(9q)AML : clinical and cytological characteristics and prognostic implications", Br J Haematol, 129, pp.210~220 (2005)
- Fröhling S, "Acute myeloid leukemia with deletion 9q within a noncomplex karyotype is associated with CEBPA loss-of-function mutations", Genes Chromosomes Cancer, 42, pp.427~432 (2005)
- Sweetser DA, "Delineation of the minimal commonly deleted segment and identification of candidate tumor-suppressor genes in del(9q)acute myeloid leukemia", Genes Chromosomes Cancer, 44, pp.279~291 (2005)
- Dayyani F, "Loss of TLE1 and TLE4 from the del(9q)commonly deleted region in AML cooperates with AML1-ETO to affect myeloid cell proliferation and survival", Blood, 111, pp.4338~4347 (2008)
- Herold T, "Acute myeloid leukemia with del(9q)is characterized by frequent mutations of NPM1, DNMT3A, WT1 and low expression of TLE4", Genes Chromosomes Cancer, 56, pp.75~86 (2017)
- Naarmann-de Vries IS, "Characterization of acute myeloid leukemia with del(9q)-impact of the genes in the minimally deleted region", Leuk Res, 76, pp.15~23 (2019)
- Montalban-Bravo G, "NPM1 mutations define a specific subgroup of MDS and MDS", MPN patients with favorable outcomes with intensive chemotherapy, 2019, pp.3, 922~933
- You E, "Frequency and clinicopathologic features of RUNX1 mutations in patients with acute myeloid leukemia not otherwise specified", Am J Clin Pathol, 148, pp.64~72 (2017)