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SHR Neuro Cancer Cardio Lipid Metab Microb

Lübking, A; Vosberg, S; Konstandin, NP; Dufour, A; Graf, A; Krebs, S; Blum, H; Weber, A; Lenhoff, S; Ehinger, M; Spiekermann, K; Greif, PA; Cammenga, J.
Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation.
Leuk Res Rep. 2015; 4(2): 72-75. Doi: 10.1016/j.lrr.2015.10.001 (- Case Report) [OPEN ACCESS]
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Leading authors Med Uni Graz: Vosberg Sebastian
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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.