[Characteristic Analysis of Adult Acute Myeloid Leukemia Patients with Gene Mutation].

Objective: 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.

Methods: 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.

Results: 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 .

Conclusion: 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.