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Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation.

Lübking, Anna LU ; Vosberg, Sebastian; Konstandin, Nikola P; Dufour, Annika; Graf, Alexander; Krebs, Stefan; Blum, Helmut; Weber, Axel; Lenhoff, Stig LU and Ehinger, Mats LU , et al. (2015) In Leukemia Research Reports 4(2). p.72-75
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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publication status
published
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Leukemia Research Reports
volume
4
issue
2
pages
72 - 75
publisher
Elsevier Limited
external identifiers
  • pmid:26716079
  • scopus:84945266216
ISSN
2213-0489
DOI
10.1016/j.lrr.2015.10.001
language
English
LU publication?
yes
id
a8d6e74a-c59c-4fee-9e5d-c75c4e33f567 (old id 8500210)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/26716079?dopt=Abstract
date added to LUP
2016-01-06 21:01:36
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2017-04-23 04:39:23
@article{a8d6e74a-c59c-4fee-9e5d-c75c4e33f567,
  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.},
  author       = {Lübking, Anna and Vosberg, Sebastian and Konstandin, Nikola P and Dufour, Annika and Graf, Alexander and Krebs, Stefan and Blum, Helmut and Weber, Axel and Lenhoff, Stig and Ehinger, Mats and Spiekermann, Karsten and Greif, Philipp A and Cammenga, Jörg},
  issn         = {2213-0489},
  language     = {eng},
  number       = {2},
  pages        = {72--75},
  publisher    = {Elsevier Limited},
  series       = {Leukemia Research Reports},
  title        = {Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation.},
  url          = {http://dx.doi.org/10.1016/j.lrr.2015.10.001},
  volume       = {4},
  year         = {2015},
}