Impact of DNMT3A,FAT1,IL-7R Gene Mutations on the Prognosis of Allo-HSCT in MDS Patients with Normal Karyotype
10.3969/j.issn.1671-7414.2025.05.016
- VernacularTitle:MDS核型正常患者骨髓DNMT3A,FAT1和IL-7R基因突变对allo-HSCT治疗预后的影响
- Author:
Huanli SHI
1
;
Huifeng DONG
Author Information
1. 邯郸市第一医院血液科,河北 邯郸 056002
- Publication Type:Journal Article
- Keywords:
myelodysplastic syndrome;
DNA methyltransferase 3A;
FAT atypical cadherin 1;
interleukin-7 recep-tor;
allogeneic hematopoietic stem cell transplantation
- From:
Journal of Modern Laboratory Medicine
2025;40(5):82-87
- CountryChina
- Language:Chinese
-
Abstract:
Objective Study on the effect of DNA methyltransferase 3A(DNMT3A),fat atypical cadherin 1(FAT1),and interleukin-7 receptor(IL-7R)gene mutations on the prognosis of patients with myelodysplastic syndrome(MDS)undergoing allogeneic hematopoietic stem cell transplantation(allo-HSCT)treatment with normal karyotype.Methods A single-center retrospective cohort method was used to analyze the clinical data of 380 patients with MDS with normal karyotype who received allo-HSCT to the Department of Hematology,Handan First Hospital from January 2021 to December 2023.Next-generation sequencing(NGS)was used to analyze the gene mutation profile of patients.According to the gene sequencing results,patients with any gene mutation in DNMT3A,FAT1 and IL-7R were classified as mutant group(n=61),and the remaining patients without the above mutation were included in the wild type group(n=319).The clinical characteristics of mutant and wild type patients were analyzed.Kaplan-Meier method was used to analyze the cumulative survival of mutant and wild-type patients,and Log Rank test was used to compare the differences between groups.According to the follow-up outcome,the patients were divided into death group(n=130)and survival group(n=250).Univariate and multivariate COX regression analysis of the factors affecting the overall survival time of MDS patients after allo-HSCT treatment.Results Among 380 patients with normal MDS,16.05%(61/380)were mutant.Compared with the wild type,the mutant's age years old,mean platelet volume(MPA)and IL-6 levels were significantly increased,and the differences were statistically significant(t=7.320,23.774,17.838,all P<0.05).There was no significant difference in overall survival(OS)rate between mutant group and wild-type group patients(59.02%vs 67.08%),and the difference was statistically significant(Log rank χ2=1.610,P>0.05).Age,sex,IL-6,DIF gene mutation,MPV,and bone marrow original cell ratio were the factors influencing the overall survival time of MDS patients after allo-HSCT treatment(t/χ2=5.286～42.498,all P＜0.05).COX regression analysis showed that bone marrow original cell ratio≥50%was an independent risk factor for overall survival of MDS patients after allo-HSCT treatment(95%CI:1.046～2.829,HR=1.734,P=0.026).Conclusion DNMT3A,FAT1 and IL-7R gene mutations have no significant effect on the overall survival of MDS patients with normal karyotype treated with allo-HSCT,and the proportion of bone marrow original cells is higher than 50%as an independent risk factor.
