[Genetic and clinical characteristics of children with -mutated juvenile myelomonocytic leukemia].

OBJECTIVES

To investigate the genomic characteristics and prognostic factors of juvenile myelomonocytic leukemia (JMML) with mutations.

METHODS

A retrospective analysis was conducted on the clinical data of JMML children with 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 mutations, 9 cases (27%) having isolated mutations, and 8 cases (24%) having compound mutations. Compared to children with isolated mutations, those with compound mutations showed statistically significant differences in age at onset, platelet count, and fetal hemoglobin proportion (<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 mutations (<0.05); hepatomegaly was a factor affecting survival in the non-HSCT group (<0.05).

CONCLUSIONS

Children with compound mutations have a later onset age compared to those with isolated mutations. At initial diagnosis, children with compound mutations have poorer peripheral platelet and fetal hemoglobin levels than those with isolated mutations. Liver size at initial diagnosis is related to the prognosis of JMML children with mutations. HSCT can improve the prognosis of JMML children with mutations.