[Analysis of Gene Mutation in Patients with Chronic Myelomonocytic Leukemia].

Objective: To characterize the occurrence of mutations in chronic myelomonocytic leukemia(CMML) patients and their correlation with other gene mutations and some clinical characteristics.

Methods: The clinical data of 43 CMML patients diagnosed in Changzhou No.2 People's Hospital and Wuxi No.2 People's Hospital were retrospectively analyzed, and gene mutations detection was performed using next-generation sequencing (NGS).

Results: Among the 43 CMML patients the mutation detection rate was 39.5%(17/43). These mutations clustered collectively at the proline 95 residue in the splicing factor . The other genes with mutation rate greater than 15% were (48.8%), (41.9%), (30.2%), (25.6%), and (16.3%). Among - mutated patients, the most common co-mutation was , followed by . The median age of mutant patients was significantly higher than that of the wild type (68 51.5, < 0.001), but there was not statistically significant differences in gender, peripheral leukocytes, hemoglobin, platelets, karyotype, and blast cell compared to the wild-type (all >0.05). Notably, 4 out of the 6 CMML patients developed leukemia transformation, and 1 out of 10 CMML patients developed leukemia transformation, with statistically significant difference in leukemia transformation rates (66.7% 10%, =0.036).

Conclusion: mutations have a high incidence in CMML, occurring frequently in older patients, and often coexisting with and mutations. Patients with CMML carrying both double mutations have a higher risk of acute leukemia transformation.