期刊
BLOOD
卷 118, 期 14, 页码 3932-3941出版社
AMER SOC HEMATOLOGY
DOI: 10.1182/blood-2010-10-311019
关键词
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类别
资金
- AA&MDS International Foundation
- Robert Duggan Charitable Fund
- [R01HL098511]
- [U54 RR019391]
- [K24 HL-077522]
- [DOD MPD510343]
- [AI44432]
- [RC1 DA028422]
Chronic myelomonocytic leukemia (CMML), a myelodysplastic/myeloproliferative neoplasm, is characterized by monocytic proliferation, dysplasia, and progression to acute myeloid leukemia. CMML has been associated with somatic mutations in diverse recently identified genes. We analyzed 72 well-characterized patients with CMML (N + 52) and CMML-derived acute myeloid leukemia (N + 20) for recurrent chromosomal abnormalities with the use of routine cytogenetics and single nucleotide polymorphism arrays along with comprehensive mutational screening. Cytogenetic aberrations were present in 46% of cases, whereas single nucleotide polymorphism array increased the diagnostic yield to 60%. At least 1 mutation was found in 86% of all cases; novel UTX, DNMT3A, and EZH2 mutations were found in 8%, 10%, and 5.5% of patients, respectively. TET2 mutations were present in 49%, ASXL1 in 43%, CBL in 14%, IDH1/2 in 4%, KRAS in 7%, NRAS in 4%, and JAK2 V617F in 1% of patients. Various mutant genotype combinations were observed, indicating molecular heterogeneity in CMML. Our results suggest that molecular defects affecting distinct pathways can lead to similar clinical phenotypes. (Blood. 2011;118(14):3932-3941)
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