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Connecting the Dots From Fever of Unknown Origin to Myelodysplastic Syndrome

GATA2 Haploinsufficiency

Montiel-Esparza, Raúl MD*; Reys, Brian MS, CGC; Rogers, Zora R. MD‡,§; Evans, Amanda S. MD; Wysocki, Christian A. MD, PhD; Timmons, Charles MD, PhD#; Dickerson, Kathryn E. MD, MSCS‡,§

Journal of Pediatric Hematology/Oncology: April 25, 2019 - Volume Publish Ahead of Print - Issue - p
doi: 10.1097/MPH.0000000000001505
Clinical and Laboratory Observations: PDF Only

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:

Received October 22, 2018

Accepted March 31, 2019

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