title: Acute lymphoblastic leukemia in a patient with MonoMAC syndrome/GATA2 haploinsufficiency.
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.
authors.affiliation: Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Ashley K
authors.initials: AK
authors.lastname: Koegel
authors.affiliation: Division of Pediatric Hematology/Oncology, Dana-Farber/Boston Children's Hospital Cancer and Blood Disorders Center, Boston, Massachusetts.|Harvard Medical School, Boston, Massachusetts.
authors.forename: Inga
authors.initials: I
authors.lastname: Hofmann
authors.affiliation: Harvard Medical School, Boston, Massachusetts.|Division of Infectious Diseases, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Kristin
authors.initials: K
authors.lastname: Moffitt
authors.affiliation: Division of Pediatric Hematology/Oncology, Dana-Farber/Boston Children's Hospital Cancer and Blood Disorders Center, Boston, Massachusetts.|Harvard Medical School, Boston, Massachusetts.
authors.forename: Barbara
authors.initials: B
authors.lastname: Degar
authors.affiliation: Division of Pediatric Hematology/Oncology, Dana-Farber/Boston Children's Hospital Cancer and Blood Disorders Center, Boston, Massachusetts.|Harvard Medical School, Boston, Massachusetts.
authors.forename: Christine
authors.initials: C
authors.lastname: Duncan
authors.affiliation: Division of Pediatric Hematology/Oncology, Dana-Farber/Boston Children's Hospital Cancer and Blood Disorders Center, Boston, Massachusetts.|Harvard Medical School, Boston, Massachusetts.
authors.forename: Venée N
authors.initials: VN
authors.lastname: Tubman
mesh_terms: D002648:Child; D005260:Female; D050989:GATA2 Transcription Factor / Q000235:genetics*; D057895:Haploinsufficiency / Q000235:genetics*; D006801:Humans; D015452:Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*
chemical_list: D050989:GATA2 Transcription Factor
keywords: ALL; MDS; bone marrow failure; congenital (not HIV); immunodeficiency; oncology; pediatric hematology