Connecting the Dots From Fever of Unknown Origin to Myelodysplastic Syndrome: GATA2 Haploinsufficiency. Issue 5 (July 2020)

• Record Type: Journal Article
• Authors: Montiel-Esparza, Raúl; Reys, Brian; Rogers, Zora R.; Evans, Amanda S.; Wysocki, Christian A.; Timmons, Charles; Dickerson, Kathryn E.
• Is Part Of: Journal of pediatric hematology/oncology. Volume 42:Issue 5(2020)
• Publication Date: 2020-07
• Subjects: GATA2 -- myelodysplastic syndrome -- acute myelogenous leukemia -- nontuberculous mycobacteria -- pancytopenia -- hematopoietic stem cell transplant; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; 618.9215
• DOI: 10.1097/MPH.0000000000001505
• Languages: English
• ISSNs: 1077-4114

Abstract

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.