TET2单核苷酸多态性位点I1762V在急性髓系白血病患者中的临床及预后意义

OBJECTIVE: This study aimed to investigate the clinical and prognostic significance of TET2 single nucleotide polymorphism I1762V in patients with acute myeloid leukemia（AML）. METHODS: The high-throughput sequencing method was used to sequence 58 hematological tumor-related genes in bone marrow samples from 413 patients with AML. TET2 I1762V and other somatic mutations were annotated and compared with patients' clinical information and prognosis. RESULTS: I1762V was found in 154 patients with AML, which was significantly different from the general population in NyuWa Chinese Population Variant Database（χ2＝72.4, P<0.001）. I1762V was not related to sex, age, and karyotype of patients with AML（P>0.05）. Patients with I1762V had a significantly higher proportion of NPM1 and KIT gene mutations than others（P<0.001）. NPM1 and KIT mutations were mutually exclusive. The survival analysis results revealed that the overall survival（OS）and progression-free survival（PFS）of patients with AML with I1762V were significantly greater than those of wild-type patients（HR＝0.57, P＝0.030; HR＝0.55, P＝0.020）, whereas the OS and PFS in patients with AML with DNMT3A mutation（with or without I1762V mutation）were lower than those of wild-type patients（HR＝1.79, P＝0.030; HR＝1.74, P＝0.040）. CONCLUSION: TET2 SNP I1762V has been linked to AML. I1762V is a prognostic factor of patients with AML, which can be used to guide the treatment and evaluate the prognosis of AML.