Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2016 Oct;63(10):1844-7.
doi: 10.1002/pbc.26084. Epub 2016 May 27.

Acute lymphoblastic leukemia in a patient with MonoMAC syndrome/GATA2 haploinsufficiency

Ashley K Koegel  1 , Inga Hofmann  2   3 , Kristin Moffitt  3   4 , Barbara Degar  2   3 , Christine Duncan  2   3 , Venée N Tubman  2   3
Affiliations
Case Reports

Acute lymphoblastic leukemia in a patient with MonoMAC syndrome/GATA2 haploinsufficiency

Ashley K Koegel et al. Pediatr Blood Cancer. 2016 Oct.

Abstract

Patients with GATA2 haploinsufficiency have a significant predisposition to developing cytopenias, unique infectious manifestations, and myelodysplastic syndrome/acute myeloid leukemia (MDS/AML). We report a unique case of a patient who presented with B-cell acute lymphoblastic leukemia (B-ALL) and was subsequently diagnosed with monocytopenia and mycobacterium avium complex (MonoMAC) syndrome/GATA2 haploinsufficiency. The development of MDS/AML in patients with GATA2 haploinsufficiency is well described, however, the development of ALL has not been reported in the literature. ALL may be associated with GATA2 haploinsufficiency. Clinicians should be attuned to the features of the MonoMAC syndrome in patients with ALL that would prompt additional testing and alter treatment.

Keywords: ALL; MDS; bone marrow failure; congenital (not HIV); immunodeficiency; oncology; pediatric hematology.

PubMed Disclaimer

Publication types

Substances