Onkológia 5/2020

Juvenile myelomonocyte leukemia: genetics in patient management

Juvenile myelomonocytic leukemia (JMML) is a very rare disease of childhood. It is characterized by overproduction of monocyte and myeloid cells that infiltrate all organs. Comprehensive analysis of genome revealed that 90% of the mutations occur in the RAS signaling pathway. These findings have contributed to improving the diagnosis of patients, finding prognostic markers and appropriate therapeutic targets. The review article highlights current developments in genomics, epigenomics and therapeutic approaches.

Keywords: juvenile myelomonocytic leukemia, genetics, stratification, treatment