Objective:In this study,AML patients with and without PTPN11 mutation were compared and analyzed to explore the clinical characteristics of patients with PTPN11 mutation and the effects of PTPN11 mutation on the survival of AML patients.Methods:This study was a single-center retrospective study.Adult patients with AML(non-M3 type)admitted to our hospital from January 1,2019 to June 30,2022 were included in this study.Patients with AML who had not been tested for mutations were deleted.396 adult AML were collected.After deleting patients who did not receive chemotherapy and could not be matched by prognostic risk stratification,24 patients with PTPN11 mutation and 318 patients with PTPN11 wild type were obtained.By the method of propensity score matching,24 patients with PTPN11 mutation and 71 patients with PTPN11 wild type were finally screened out.Retrospective analysis was conducted to investigate the differences of age,sex,peripheral blood cell count,prognostic risk stratification,induction chemotherapy regimen and other indicators at initial diagnosis between the two groups.Meanwhile,survival analysis was conducted on the overall survival time(OS)and relapse-free survival time(RFS)of the two groups of patients,to explore the effect of PTPN 11 mutation on the survival of AML patients.Results:Among 396 patients collected,27(6.82%)AML patients carried the PTPN 11 mutation.20 patients(74.07%)with PTPN 11 mutation had more than 3 coexpressed genes,and the most co-mutated genes with PTPN 11 were DMNT3A,NRAS,ASXL1,FLT3-ITD and RUNX1.A72T and A72V missense mutations located in the SH2 domain(exon3)at the N terminal of PTPN11 were most common.In the risk prognosis stratification group,12(50%)patients were classified as having a poor prognosis.Both OS and RFS of PTPN11 mutant patients were significantly shorter than those of PTPN11 wild type group(median OS,PTPN11mut AML 9.5 months vs PTPN1lwt AML 23.1 months,P=0.017;Median RFS,PTPN11mut AML 6.8 months vs PTPN11wt AML 24.7 months,P<0.001).Patients with PTPN11 mutation tended to have worse survival among those with good or poor outcomes.In patients who received intense induction chemotherapy,those with the PTPN11 mutation had significantly shorter survival and earlier recurrence.Hematopoietic stem cell transplantation can partially improve the prognosis of patients with PTPN11 mutation.AML patients with PTPN11 mutation who received hematopoietic stem cell transplantation had a longer overall survival(OS)than patients with chemotherapy alone.But patients with PTPN11 mutation who received transplantation had worse OS and RFS than patients with PTPN11 wild type who received transplantation.In a multivariate analysis model,this study further confirmed that PTPN11 mutation was a separate risk factor for increasing recurrence and death in AML patients.Conclusions:PTPN11 mutation is an independent risk factor for relapse and death in adult AML patients.Adult AML patients with PTPN11 mutations have complex gene expression,shorter overall survival time,and are more likely to relapse.Hematopoietic stem cell transplantation can partially improve the prognosis of patients with PTPN11 mutations,but more powerful measures are still needed. |