Connecting the Dots From Fever of Unknown Origin to Myelodysplastic Syndrome: GATA2 Haploinsufficiency

J Pediatr Hematol Oncol. 2020 Jul;42(5):e365-e368. doi: 10.1097/MPH.0000000000001505.

Abstract

Leukemia-predisposing conditions, such as GATA2 haploinsufficiency, are known for their high penetrance and expressivity profiles. These disorders pose a difficult diagnostic challenge to even the most experienced clinician when they first present. We describe the case of a 17-year-old male presenting with features of nontuberculous mycobacterial infection, pulmonary fibrinoid granulomatous vasculitis, and myelodysplasia in the setting of a pathogenic GATA2 frameshift mutation confirmed by next-generation sequencing. The broad differential for GATA2 haploinsufficiency requires prompt recognition of key clinical features and laboratory abnormalities towards directing diagnosis and guiding appropriate and perhaps life-saving therapy.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Female
  • Fever of Unknown Origin / complications*
  • Fever of Unknown Origin / genetics
  • Frameshift Mutation*
  • GATA2 Deficiency / complications*
  • GATA2 Deficiency / genetics
  • GATA2 Transcription Factor / genetics*
  • Haploinsufficiency*
  • Humans
  • Myelodysplastic Syndromes / etiology
  • Myelodysplastic Syndromes / pathology*
  • Prognosis

Substances

  • GATA2 Transcription Factor
  • GATA2 protein, human