Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation.
作者： Anna Lübking , Sebastian Vosberg , Nikola P. Konstandin , Annika Dufour , Alexander Graf
DOI: 10.1016/J.LRR.2015.10.001
关键词:
摘要: Heterozygous mutations in GATA2 underlie different syndromes, previously described as monocytopenia and mycobacterial avium complex infection (MonoMAC); dendritic cell, monocytes, B- NK lymphocytes deficiency (DCML); lymphedema, deafness myelodysplasia (Emberger syndrome) familiar myelodysplastic syndrome/acute myeloid leukemia (MDS / AML). Onset severity of clinical symptoms vary preceding cytopenias are not always present. We describe a case symptomatic DCML rather discrete bone marrow findings due to mutation. Exome sequencing revealed somatic ASXL1 mutation the patient underwent allogeneic stem cell transplantation successfully.
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