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- W4308654627 abstract "Abstract Introduction/Objective Genes commonly mutated in clonal Hematopoiesis (CH) are found in a subset of acute myeloid leukemia (AML) patients. Although these mutations can occur early in AML evolution, they are not alone sufficient to cause AML, and their role in disease development is still poorly understood. Methods/Case Report We searched all AML cases with mutations in three major CH genes (DNMT3A, TET2, ASXL1). Only mutations of known or possible clinical significance were included. We evaluated the pathologic diagnosis, cytogenetics, molecular profiling, and follow-up information. Results (if a Case Study enter NA) Eighty-one cases were identified (59 males and 22 females, age 33-89, median 67). Blasts often show monocytic differentiation, seen frequently in AML with mutated NPM1 and AML NOS, with less frequency in t-AML (25%). Among 72 patients with available cytogenetic data, 50% had normal karyotype. MDS- related cytogenetic abnormalities were common and included complex karyotype, del(5q), del(7q), +8, and +20. Mutations in CH genes were almost always accompanied by other driver mutations (90%), most frequently NPM1, followed by mutations in cell signaling genes (FLT3, RUNX1, KRAS, CBL, NF1, NRAS), spliceosome (SRSF2, U2AF1, ZRZF2), IDH1/2, cohesin complex-related genes (STAG1, STAG2, SMC3, SMC1A, RAD21), BCOR, TP53, WT1, PHF6, or SH2B3. Mutations in CH genes can persist after the patients achieved morphologic remission, and were often associated with disappearance of the accompanying mutations (68%). The VAF of the mutated CH-related genes, during remission, significantly decreased (p=0.00075), indicating decreasing clone size with AML treatment. In 4 of the 5 cases with relapsed disease, additional mutations in CEBPA, KRAS, RUNX1, IDH2, FLT3 ITD, and PHF6 were acquired Conclusion Mutations in CH-related genes are present in different types of AML, but most frequently in AML with mutated NPM1, AML-MRC and AML with monocytic differentiation. They alone are not sufficient to cause AML, and can shrink during remission. Relapse is often accompanied by acquisition of additional mutations." @default.
- W4308654627 created "2022-11-13" @default.
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- W4308654627 date "2022-11-01" @default.
- W4308654627 modified "2023-09-28" @default.
- W4308654627 title "Mutations in Clonal Hematopoiesis-Related Genes in Acute Myeloid Leukemia: An Observational Study" @default.
- W4308654627 doi "https://doi.org/10.1093/ajcp/aqac126.208" @default.
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