Clinical characteristics and prognosis analysis of acute myeloid leukemia patients with PTPN11 gene mutation
10.19405/j.cnki.issn1000-1492.2024.08.029
- VernacularTitle:PTPN11基因突变急性髓系白血病患者临床特征及预后分析
- Author:
Qianshan TAO
1
;
Wanying XUE
;
Beibei XIE
;
Qing ZHANG
;
Huiping WANG
;
Zhimin ZHAI
;
Hui QIN
;
Yi DONG
Author Information
1. 安徽医科大学第二附属医院血液内科,合肥 230601
- Keywords:
acute myeloid leukemia;
gene mutation;
PTPN11;
prognosis
- From:
Acta Universitatis Medicinalis Anhui
2024;59(8):1483-1488,1494
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical characteristics and prognosis of acute myeloid leukemia(AML)patients with PTPN11 gene mutation.Methods Total 115 adult AML patients who underwent initial diagnosis,treatment,and second-generation sequencing(NGS)detecting at hospital were recruited in this study.Clinical da-ta included disease characteristics,treatment efficacy,long-term prognosis,immune cell subpopulations,and leu-kemia stem cells were collected to analyze the clinical characteristics and prognosis of AML patients with PTPN11 gene mutation.Results PTPN11 gene mutation rate in newly diagnosed adult AML was 9.57％,and the mutation site mainly occurred in exon 3 region with all mutation type being point mutation.Compared with PTPN11 wild-type group,PTPN11 gene mutation group had a higher early mortality rate(18.18％vs 4.00％,P=0.048),a lower complete response rate(33.33％vs 67.71％,P=0.039),a higher recurrence rate(83.33％vs 42.31％,P=0.043),a shorter median overall survival time(9 months vs 20 months,P=0.026),a lower proportion of ef-fector T cells[(1.39±0.12)％vs(3.56±0.46)％,P=0.038],and a higher proportion of leukemia stem cells[(13.82±3.66)％vs(3.87±1.40)％,P=0.021].Conclusion PTPN11 gene mutation is a poor prognostic marker for AML.Those patients have a high early mortality rate,low complete remission rate,high recurrence rate,short median overall survival time,a low proportion of effector T cells,and a high proportion of leukemia stem cells.
