Somatic mutations in children with GATA2-associated myelodysplastic syndrome who lack other features of GATA2 deficiency.

ABSTRACT: Approximately 10% of children with primary myelodysplastic syndrome (MDS) have germ line GATA2 mutations, leading to the proposal that all children with primary MDS and certain cytogenetic findings, including monosomy 7, be tested for germ line GATA2 mutations regardless of family history or other clinical features associated with GATA2 deficiency. In adults with familial GATA2-MDS, those with somatic mutations in ASXL1 experience rapid disease progression to acute myeloid leukemia (AML) and poor prognosis after stem cell transplantation; however, the prevalence of somatic mutations in primary pediatric GATA2-MDS is unclear. Here, we studied a cohort of 8 pediatric patients with MDS and lacking additional GATA2-associated clinical features o

SUBMITTER: Fisher KE 

PROVIDER: S-EPMC5738979 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature