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Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation
Department of Hematology and Vascular Disorders, Skåne University Hospital, Lund, Sweden.
Department of Internal Medicine 3, Ludwig-Maximilians-Universität (LMU), Munich, Germany; German Cancer Consortium (DKTK), Heidelberg, Germany; German Cancer Research Center (DKFZ), Heidelberg, Germany .
Department of Internal Medicine 3, Ludwig-Maximilians-Universität (LMU), Munich, Germany.
Department of Hematology and Vascular Disorders, Skåne University Hospital, Lund, Sweden.
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2015 (English)In: Leukemia Research Reports, ISSN 2213-0489, Vol. 4, no 2, 72-75 p.Article in journal (Refereed) Published
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Abstract [en]

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. © 2015.

Place, publisher, year, edition, pages
Elsevier, 2015. Vol. 4, no 2, 72-75 p.
Keyword [en]
GATA2 mutation; Myelodysplastic syndrome; ASXL1 mutation; Allogeneic hematopoietic stem cell transplantation
National Category
Hematology
Identifiers
URN: urn:nbn:se:liu:diva-126593DOI: 10.1016/j.lrr.2015.10.001PubMedID: 26716079Scopus ID: 2-s2.0-84945266216OAI: oai:DiVA.org:liu-126593DiVA: diva2:915740
Available from: 2016-03-30 Created: 2016-03-30 Last updated: 2016-04-20Bibliographically approved

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Cammenga, Jörg

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