Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation
2015 (English)In: Leukemia Research Reports, ISSN 2213-0489, Vol. 4, no 2, 72-75 p.Article in journal (Refereed) PublishedText
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. Â© 2015.
Place, publisher, year, edition, pages
Elsevier, 2015. Vol. 4, no 2, 72-75 p.
GATA2 mutation; Myelodysplastic syndrome; ASXL1 mutation; Allogeneic hematopoietic stem cell transplantation
IdentifiersURN: urn:nbn:se:liu:diva-126593DOI: 10.1016/j.lrr.2015.10.001PubMedID: 26716079ScopusID: 2-s2.0-84945266216OAI: oai:DiVA.org:liu-126593DiVA: diva2:915740