Understanding the biology of pediatric myelodysplasia and JMML
This year’s Jean Bernard Lifetime Achievement Award was granted to Professor Charlotte Niemeyer (University Medical Center of Freiburg, Germany), for her outstanding contribution in the field of pediatric MDS, bone marrow failure, and especially juvenile myelomonocytic leukemia (JMML). She co-founded the EWOG-MDS working group on childhood MDS and JMML, and chairs the board of the coordinative study center of this group.
As one of the first, Niemeyer described PTPN11 mutations in children with Noonan syndrome and myeloproliferative disorder, and found that somatic PTPN11 mutations were present in a third of JMML patients, and in some cases of AML and MDS.
Her work contributed to the proper understanding of the biology of JMML. Mutations in the RAS pathway are highly common in this disease, and can describe five genetically and clinically distinct JMML subtypes. Together with others she found that some children have germline mutations that affect the RAS pathway and predispose to JMML.
Using genome-wide methylation profiling her group recently identified distinct DNA methylation signatures correlating with clinical and genetic features. Niemeyer: “In an international collaboration we are currently working on an epigenetic score clinically applicable for decision making and for stratification in the ongoing trials with MEK inhibitors and demethylating agents.”