Myelodysplastic syndrome is rare in children and there is growing evidence of genetic predispositions leading to its occurrence. GATA2 germline mutations were identified to be associated with pediatric MDS. The authors of this study are part of the EWOG-MDS group, a large European consortium overseeing a large database of pediatric patients with MDS, SAA, and JMML. They analyzed 426 children and adolescents with primary MDS and 82 cases with secondary MDS from two prospective studies. The found germline GATA2 mutations to be associated with higher grade MDS and older age: 15%, 7%, 0%, 0% for advanced primary, overall primary, secondary MDS, and SAA respectively. There was a correlation with monosomy 7 and older age: patients 12-19 years with monosomy were affected in 72% of cases compared to 7% 0-6 years. Survival was not altered in patients with or without GATA2 germline mutations.
* GATA2 germline mutations are associated with de novo MDS in the pediatric population and are the most common genetic predisposition without impact on survival.