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

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
JournalJournal of Pediatric Hematology/Oncology
DOIs
StatePublished - Jan 1 2019
Externally publishedYes

Fingerprint

Fever of Unknown Origin
Haploinsufficiency
Myelodysplastic Syndromes
Frameshift Mutation
Penetrance
Vasculitis
Leukemia
Lung
Infection
Therapeutics

Keywords

  • acute myelogenous leukemia
  • GATA2
  • hematopoietic stem cell transplant
  • myelodysplastic syndrome
  • nontuberculous mycobacteria
  • pancytopenia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

Cite this

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title = "Connecting the Dots from Fever of Unknown Origin to Myelodysplastic Syndrome: GATA2 Haploinsufficiency",
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.",
keywords = "acute myelogenous leukemia, GATA2, hematopoietic stem cell transplant, myelodysplastic syndrome, nontuberculous mycobacteria, pancytopenia",
author = "Ra{\'u}l Montiel-Esparza and Brian Reys and Rogers, {Zora R.} and Evans, {Amanda S.} and Wysocki, {Christian A.} and Charles Timmons and Dickerson, {Kathryn E.}",
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T1 - Connecting the Dots from Fever of Unknown Origin to Myelodysplastic Syndrome

T2 - GATA2 Haploinsufficiency

AU - Montiel-Esparza, Raúl

AU - Reys, Brian

AU - Rogers, Zora R.

AU - Evans, Amanda S.

AU - Wysocki, Christian A.

AU - Timmons, Charles

AU - Dickerson, Kathryn E.

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