Title |
Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation
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Published in |
Leukemia Research Reports, October 2015
|
DOI | 10.1016/j.lrr.2015.10.001 |
Pubmed ID | |
Authors |
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 |
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. |
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