title: Pediatric MDS: GATA screen the germline.
abstract: In this issue of Blood, Wlodarski and colleagues demonstrate that as many as 72% of adolescents diagnosed with myelodysplastic syndrome (MDS) and monosomy 7 harbor germline mutations in GATA2. Although pediatric MDS is a very rare diagnosis, occurring in 0.8 to 4 cases per million, Wlodarski et al screened >600 cases of primary or secondary MDS in children and adolescents who were enrolled in the European Working Group on MDS consortium over a period of 15 years. The overall frequency of germline GATA2 mutations in children with primary MDS was 7%, and 15% in those presenting with advanced disease. Notably, mutations in GATA2 were absent in patients with therapy-related MDS or acquired aplastic anemia.
authors.affiliation: UNIVERSITY OF CALIFORNIA, SAN FRANCISCO.
authors.forename: Elliot
authors.initials: E
authors.lastname: Stieglitz
authors.affiliation: UNIVERSITY OF CALIFORNIA, SAN FRANCISCO.
authors.forename: Mignon L
authors.identifier: http://orcid.org/0000-0003-4099-4700
authors.initials: ML
authors.lastname: Loh
mesh_terms: D005260:Female; D050989:GATA2 Transcription Factor / Q000172:deficiency*; D006801:Humans; D008297:Male; D009190:Myelodysplastic Syndromes / Q000235:genetics*
chemical_list: D050989:GATA2 Transcription Factor