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Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation
- Source :
- Leukemia Research Reports, Vol 4, Iss 2, Pp 72-75 (2015)
- Publication Year :
- 2015
- Publisher :
- Elsevier, 2015.
-
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.
Details
- Language :
- English
- ISSN :
- 22130489
- Volume :
- 4
- Issue :
- 2
- Database :
- Directory of Open Access Journals
- Journal :
- Leukemia Research Reports
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.bfbea525ab6348a6bf48af5682f3af33
- Document Type :
- article
- Full Text :
- https://doi.org/10.1016/j.lrr.2015.10.001