Analysis of epigenetic modification gene mutations among patients with acute myeloid leukemia

• Published in: Zhonghua yi xue yi chuan xue za zhi Vol. 40; no. 4; p. 435
• Main Authors: Wei, Jifeng, Qiu, Huiying, Zhou, Hang, Chen, Zhe, Miao, Lei, Wang, Ying, Zhao, Lidong, Cai, Zhimei
• Format: Journal Article
• Language: Chinese
• Published: China 10.04.2023
• Subjects: Aged; Epigenesis, Genetic; Humans; Leukemia, Myeloid, Acute - drug therapy; Leukemia, Myeloid, Acute - genetics; Mutation; Nucleophosmin; Prognosis
• ISSN: 1003-9406
• DOI: 10.3760/cma.j.cn511374-20221031-00736

To investigate the carrier rate and clinical characteristics of epigenetic modification gene mutations (EMMs) among patients with acute myeloid leukemia (AML). One hundred seventy two patients who were initially diagnosed with AML at the First People's Hospital of Lianyungang from May 2011 to February 2021 were selected as the study subjects. Next-generation sequencing was carried out to detect variants of 42 myeloid genes among these patients. Clinical and molecular characteristics of patients with EMMs and the effect of demethylation drugs (HMAs) on their survival were analyzed. Among the 172 AML patients, 71 (41.28%) were found to harbor the EMMs, and carrier rates were TET2 (14.53%, 25/172), DNMT3A (11.63%, 20/172), ASXL1 (9.30%, 16/172), IDH2 (9.30%, 16/172), IDH1 (8.14%, 14/172), EZH2 (0.58%, 1/172). Patients with EMMs (+) had lower peripheral hemoglobin compared with those with EMMs(-) (72 g/L vs. 88 g/L, Z = -1.985, P = 0.041). The proportion of EMMs(+) among elderly AML patients was significantly hig