Sheng Li, Liu Ya-Jiao, Zhou Jing-Fen, Chao Hong-Ying, Hua Hai-Ying, Zhou Xin, Zhao Xiao-Hong
Department of Hematology, The Affiliated Hospital of Jiangnan University, Wuxi 214122, Jiangsu Province, China.
Wuxi School of Medicine, Jiangnan University, Wuxi 214122, Jiangsu Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2024 Aug;32(4):1063-1070. doi: 10.19746/j.cnki.issn.1009-2137.2024.04.014.
To investigate the incidence of gene mutation and its associated gene mutations in adult patients with acute myeloid leukemia (AML), and analyze its clinical characteristics.
Second-generation sequencing and Sanger sequencing were used to detect 51 gene mutations, and multiplex-PCR was used to detect 41 fusion genes from 451 newly diagnosed adult AML patients admitted to Affiliated Hospital of Jiangnan University, Changzhou Second People's Hospital, Wuxi People's Hospital and Wuxi Second People's Hospital from January 2017 to July 2022.
Among 451 primary adult AML patients, the gene mutation was detected in 34 cases, and the mutation rate was 7.5%. In the 34 patients, 37 alterations were found, which were exclusively missense mutations affecting residues located within the N-SH2 (31 cases) and PTP (6 cases) domains and clustered overwhelmingly in exon 3. The platelet count of mutation patients was 76.5(23.5, 119.0)×10/L, which was significantly higher than 41.0(22.0, 82.5)×10/L of wild-type patients ( < 0.05). While, there were no significant differences in sex, age, peripheral white blood cell count, hemoglobin, and bone marrow blast between mutation and wild-type patients ( >0.05). In FAB subtypes, mutations were mainly distributed in M5, followed by M2 and M4, less frequently in M3 and M6. There was no significant difference in the distribution of FAB subtypes between mutation and wild-type patients ( >0.05). A total of 118 AML patients were detected positive fusion gene, among which patients with mutations had a higher incidence of positive MLL-AF6 than wild-type ones ( < 0.01). 97.1% of 34 patients with mutations were accompanied by other mutations, in descending order, they were respectively (38.2%), (32.4%), (32.4%), (32.4%) and (23.5%), etc .
mutation has a certain incidence in AML patients and is clustered overwhelmingly in exon 3. ALL of them are exclusively missense mutations, and most often present in conjunction with mutations. FAB typing of mutation is mostly manifested as M5 subtype, which is associated with higher platelet counts.
探讨成年急性髓系白血病（AML）患者基因突变及其相关基因突变的发生率，并分析其临床特征。
采用二代测序和桑格测序检测451例2017年1月至2022年7月在江南大学附属医院、常州市第二人民医院、无锡市人民医院及无锡市第二人民医院新诊断的成年AML患者的51个基因突变，采用多重聚合酶链反应检测41个融合基因。
在451例成年初治AML患者中，34例检测到基因突变，突变率为7.5%。在这34例患者中，共发现37个改变，均为错义突变，影响位于N-SH2结构域（31例）和PTP结构域（6例）内的残基，且绝大多数集中在外显子3。基因突变患者的血小板计数为76.5（23.5，119.0）×10⁹/L，显著高于野生型患者的41.0（22.0，82.5）×10⁹/L（P<0.05）。而基因突变与野生型患者在性别、年龄、外周血白细胞计数、血红蛋白及骨髓原始细胞比例方面差异均无统计学意义（P>0.05）。在FAB亚型中，基因突变主要分布于M5，其次为M2和M4，M3和M6较少见。基因突变与野生型患者FAB亚型分布差异无统计学意义（P>0.05）。共118例AML患者检测到融合基因阳性，其中基因突变患者MLL-AF6阳性发生率高于野生型患者（P<0.01）。34例基因突变患者中97.1%伴有其他基因突变，依次为（38.2%）、（32.4%）、（32.4%）、（32.4%）和（23.5%）等。
基因突变在AML患者中有一定发生率，且绝大多数集中在外显子3。均为错义突变，且常与其他基因突变同时存在。基因突变的FAB分型多表现为M5亚型，与血小板计数较高有关。
