title: Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation.
abstract: Heterozygous mutations in GATA2 underlie different syndromes, previously described as monocytopenia and mycobacterial avium complex infection (MonoMAC); dendritic cell, monocytes, B- and NK lymphocytes deficiency (DCML); lymphedema, deafness and myelodysplasia (Emberger syndrome) and familiar myelodysplastic syndrome/acute myeloid leukemia (MDS / AML). Onset and severity of clinical symptoms vary and preceding cytopenias are not always present. We describe a case of symptomatic DCML deficiency and rather discrete bone marrow findings due to GATA2 mutation. Exome sequencing revealed a somatic ASXL1 mutation and the patient underwent allogeneic stem cell transplantation successfully.
authors.affiliation: Department of Hematology and Vascular Disorders, Skåne University Hospital, 22185 Lund, Sweden.
authors.forename: Anna
authors.initials: A
authors.lastname: Lübking
authors.affiliation: Department of Internal Medicine 3, Ludwig-Maximilians-Universität (LMU), Munich, Germany ; German Cancer Consortium (DKTK), Heidelberg, Germany ; German Cancer Research Center (DKFZ), Heidelberg, Germany.
authors.forename: Sebastian
authors.initials: S
authors.lastname: Vosberg
authors.affiliation: Department of Internal Medicine 3, Ludwig-Maximilians-Universität (LMU), Munich, Germany.
authors.forename: Nikola P
authors.initials: NP
authors.lastname: Konstandin
authors.affiliation: Department of Internal Medicine 3, Ludwig-Maximilians-Universität (LMU), Munich, Germany.
authors.forename: Annika
authors.initials: A
authors.lastname: Dufour
authors.affiliation: Laboratory for Functional Genome Analysis at the Gene Center, Ludwig-Maximilians-Universität (LMU), Munich, Germany.
authors.forename: Alexander
authors.initials: A
authors.lastname: Graf
authors.affiliation: Laboratory for Functional Genome Analysis at the Gene Center, Ludwig-Maximilians-Universität (LMU), Munich, Germany.
authors.forename: Stefan
authors.initials: S
authors.lastname: Krebs
authors.affiliation: Laboratory for Functional Genome Analysis at the Gene Center, Ludwig-Maximilians-Universität (LMU), Munich, Germany ; German Cancer Consortium (DKTK), Heidelberg, Germany ; German Cancer Research Center (DKFZ), Heidelberg, Germany.
authors.forename: Helmut
authors.initials: H
authors.lastname: Blum
authors.affiliation: Institut für Humangenetik, Universitätsklinikum Giessen und Marburg/Standort Giessen, Germany.
authors.forename: Axel
authors.initials: A
authors.lastname: Weber
authors.affiliation: Department of Hematology and Vascular Disorders, Skåne University Hospital, 22185 Lund, Sweden.
authors.forename: Stig
authors.initials: S
authors.lastname: Lenhoff
authors.affiliation: Department of Pathology, Skåne University Hospital, 22185 Lund, Sweden.
authors.forename: Mats
authors.initials: M
authors.lastname: Ehinger
authors.affiliation: Department of Internal Medicine 3, Ludwig-Maximilians-Universität (LMU), Munich, Germany ; German Cancer Consortium (DKTK), Heidelberg, Germany ; German Cancer Research Center (DKFZ), Heidelberg, Germany.
authors.forename: Karsten
authors.initials: K
authors.lastname: Spiekermann
authors.affiliation: Department of Internal Medicine 3, Ludwig-Maximilians-Universität (LMU), Munich, Germany ; German Cancer Consortium (DKTK), Heidelberg, Germany ; German Cancer Research Center (DKFZ), Heidelberg, Germany.
authors.forename: Philipp A
authors.initials: PA
authors.lastname: Greif
authors.affiliation: Department of Hematology and Vascular Disorders, Skåne University Hospital, 22185 Lund, Sweden ; Department of Molecular Medicine and Gene Therapy, Sölvegatan 17, BMC A12, Lund University, 22184 Lund, Sweden.
authors.forename: Jörg
authors.initials: J
authors.lastname: Cammenga
keywords: ASXL1 mutation; Allogeneic hematopoietic stem cell transplantation; GATA2 mutation; Myelodysplastic syndrome