Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation

Anna Lübking; Sebastian Vosberg; Nikola P Konstandin; Annika Dufour; Alexander Graf; Stefan Krebs; Helmut Blum; Axel Weber; Stig Lenhoff; Mats Ehinger; Karsten Spiekermann; Philipp A Greif; Jörg Cammenga

doi:10.1016/j.lrr.2015.10.001

Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation

Leuk Res Rep. 2015 Oct 17;4(2):72-5. doi: 10.1016/j.lrr.2015.10.001. eCollection 2015.

Authors

Affiliations

¹ Department of Hematology and Vascular Disorders, Skåne University Hospital, 22185 Lund, Sweden.
² Department of Internal Medicine 3, Ludwig-Maximilians-Universität (LMU), Munich, Germany ; German Cancer Consortium (DKTK), Heidelberg, Germany ; German Cancer Research Center (DKFZ), Heidelberg, Germany.
³ Department of Internal Medicine 3, Ludwig-Maximilians-Universität (LMU), Munich, Germany.
⁴ Laboratory for Functional Genome Analysis at the Gene Center, Ludwig-Maximilians-Universität (LMU), Munich, Germany.
⁵ 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.
⁶ Institut für Humangenetik, Universitätsklinikum Giessen und Marburg/Standort Giessen, Germany.
⁷ Department of Pathology, Skåne University Hospital, 22185 Lund, Sweden.
⁸ 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.

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.

Keywords: ASXL1 mutation; Allogeneic hematopoietic stem cell transplantation; GATA2 mutation; Myelodysplastic syndrome.

Publication types

Case Reports