Pediatric MDS: GATA screen the germline

Blood. 2016 Mar 17;127(11):1377-8. doi: 10.1182/blood-2016-01-690016.


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.

Publication types

  • Comment

MeSH terms

  • Female
  • GATA2 Transcription Factor / deficiency*
  • Humans
  • Male
  • Myelodysplastic Syndromes / genetics*


  • GATA2 Transcription Factor