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

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...

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Bibliographic Details
Published in:Pediatric blood & cancer 2016-10, Vol.63 (10), p.1844-1847
Main Authors: Koegel, Ashley K., Hofmann, Inga, Moffitt, Kristin, Degar, Barbara, Duncan, Christine, Tubman, Venée N.
Format: Article
Language:English
Subjects:
ALL
bone marrow failure
Child
congenital (not HIV)
Female
GATA2 Transcription Factor - genetics
Haploinsufficiency - genetics
Hematology
Humans
immunodeficiency
Leukemia
MDS
Mycobacterium avium
Oncology
Patients
pediatric hematology
Pediatrics
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma - genetics
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Summary: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.
ISSN:1545-5009
1545-5017
DOI:10.1002/pbc.26084