Juvenile myelomonocytic leukemia (JMML)

Juvenile myelomonocytic leukemia (JMML) is a rare and aggressive form of early childhood leukemia that shows both myelodysplastic and myeloproliferative properties. Hematopoietic stem cell transplantation remains the standard of care, however event-free survival is poor. In over 90% of JMML patients, germline or somatic mutations in genes involved in the RAS signaling pathway can be found. But these mutations, nor additional secondary mutations, are unable to fully explain the phenotypic and prognostic heterogeneity of the disease. Recently it was shown that JMML patients can be classified in distinct classes of DNA methylation patterns where hypermethylation was shown to correlate with poor prognosis. 


Our research group has focused on the transcriptome of JMML patients and found that (non-) coding RNAs as well as circular RNAs play an important role in the pathogenesis. Currently we aim to generate an integrated dataset of genomic, DNA methylome, transcriptome and histone PTM data in a large set of JMML patients will allow to integration of this data and aid in refining risk stratification and in identification of novel molecular targets with biomarker and/or therapeutic potential. Furthermore, for several lncRNA and circRNAs we are investigating their therapeutic potential and role in the oncopathogenesis of JMML.




De Vos N, Hofmans M, Lammens T, De Wilde B, Van Roy N and De Moerloose B. (2022). Targeted therapy in juvenile myelomonocytic leukemia: Where are we now? Ped. Blood Cancer 69(11): e29930. DOI: 10.1002/pbc29930. PMID: 36094370