Abstract
Objective: The purpose of our study was to investigate the clinical characteristics, molecular biological characteristics and prognosis of patients with acute myeloid leukemia (AML) harboring protein tyrosine phosphatase non-receptor type 11 (PTPN11) gene mutation. Methods: The clinical data of 30 newly diagnosed adult AML patients with PTPN11 gene mutation were analyzed retrospectively. Prognostic analysis and screening of prognostic factors were conducted using the Kaplan-Meier method and Cox proportional hazards regression model. Results: High frequency mutation sites of PTPN11 gene were located in exon 3 of chromosome 12, which are D61 and A72（16.7%）, followed by E76 (13.3%). The median variant allele frequency (VAF) of PTPN11 mutant gene was determined to be 18.4%. The patients were divided into two groups according to PTPN11 VAF 35.3% (upper quartile). We observed that the peripheral blood leukocyte count in patients with VAF ≥35.3% was significantly higher than patients with VAF < 35.3% (p=0.019).Moreover, the higher VAF was closely related to M5 subtype AML (p=0.016) and internal tandem duplication (ITD) of FMS-like tyrosine kinase 3 (FLT3) (FLT3-ITD) mutation (p= 0.048). Taking PTPN11 VAF 20% and 35.3% as the cutoff value, the patients were divided into two groups, and the overall survival(OS) and event free survival (EFS) of these two groups were not significant. Multivariate analysis using the COX proportional hazards model identified that white blood cell count and Eastern Cooperative Oncology Group (ECOG) physical status score were independent risk factors affecting the prognosis of EFS. Conclusion: Our study suggests that PTPN11 VAF may not serve as a prognostic factor in patients with PTPN11 mut AML. However, newly diagnosed patients with high white blood cell count and poor performance status were identified as independent risk factors for EFS in PTPN11 mut AML. Keywords: Acute myeloid leukemia, PTPN11 mutation, clinical characteristics
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