Genetic and clinical characteristics of children with RAS-mutated juvenile myelomonocytic leukemia.
10.7499/j.issn.1008-8830.2411018
- Author:
Yun-Long CHEN
1
;
Xing-Chen WANG
1
;
Chen-Meng LIU
1
;
Tian-Yuan HU
1
;
Jing-Liao ZHANG
1
;
Fang LIU
1
;
Li ZHANG
1
;
Xiao-Juan CHEN
1
;
Ye GUO
1
;
Yao ZOU
1
;
Yu-Mei CHEN
1
;
Ying-Chi ZHANG
1
;
Xiao-Fan ZHU
1
;
Wen-Yu YANG
1
Author Information
1. State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College , Tianjin 300020, China.
- Publication Type:Journal Article
- Keywords:
Child;
Clinical feature;
Juvenile myelomonocytic leukemia;
Prognosis;
RAS mutation
- MeSH:
Humans;
Leukemia, Myelomonocytic, Juvenile/therapy*;
Mutation;
Male;
Female;
Child, Preschool;
Retrospective Studies;
Child;
Infant;
GTP Phosphohydrolases/genetics*;
Membrane Proteins/genetics*;
Adolescent;
Hematopoietic Stem Cell Transplantation;
Proportional Hazards Models;
Proto-Oncogene Proteins p21(ras)/genetics*;
Prognosis
- From:
Chinese Journal of Contemporary Pediatrics
2025;27(5):548-554
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVES:To investigate the genomic characteristics and prognostic factors of juvenile myelomonocytic leukemia (JMML) with RAS mutations.
METHODS:A retrospective analysis was conducted on the clinical data of JMML children with RAS mutations treated at the Hematology Hospital of Chinese Academy of Medical Sciences, from January 2008 to November 2022.
RESULTS:A total of 34 children were included, with 17 cases (50%) having isolated NRAS mutations, 9 cases (27%) having isolated KRAS mutations, and 8 cases (24%) having compound mutations. Compared to children with isolated NRAS mutations, those with NRAS compound mutations showed statistically significant differences in age at onset, platelet count, and fetal hemoglobin proportion (P<0.05). Cox proportional hazards regression model analysis revealed that hematopoietic stem cell transplantation (HSCT) and hepatomegaly (≥2 cm below the costal margin) were factors affecting the survival rate of JMML children with RAS mutations (P<0.05); hepatomegaly was a factor affecting survival in the non-HSCT group (P<0.05).
CONCLUSIONS:Children with NRAS compound mutations have a later onset age compared to those with isolated NRAS mutations. At initial diagnosis, children with NRAS compound mutations have poorer peripheral platelet and fetal hemoglobin levels than those with isolated NRAS mutations. Liver size at initial diagnosis is related to the prognosis of JMML children with RAS mutations. HSCT can improve the prognosis of JMML children with RAS mutations.
