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.
Departments of *General Pediatrics
#Pathology, Children’s Medical Center at University of Texas Southwestern Medical Center
†Cancer Genetics Program, Simmons Comprehensive Cancer Center
‡Department of Pediatrics, Division of Hematology-Oncology
∥Department of Pediatrics, Division of Infectious Diseases
¶Department of Internal Medicine, Division of Allergy and Immunology, University of Texas Southwestern Medical Center
§The Pauline Allen Gill Center for Cancer and Blood Disorders, Children’s Medical Center Dallas, Dallas, TX
The authors declare no conflict of interest.
Reprints: Raúl Montiel-Esparza, MD, 5323 Harry Hines Blvd., Dallas, TX 75390-9063 (e-mail: email@example.com).
Received October 22, 2018
Accepted March 31, 2019