Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival.

@article{Bdr2012GermlineGP,
  title={Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival.},
  author={Csaba B{\"o}d{\"o}r and Aline Renneville and Matthew Smith and Aur{\'e}lie Charazac and Sameena Iqbal and Pascaline Etancelin and Jamie D. Cavenagh and Michael Barnett and Karolina Skvarova Kramarzova and Biju Krishnan and Andr{\'a}s Matolcsy and Claude Joseph Preudhomme and Jude Fitzgibbon and Carolyn Amann Paul Pearson Mike Owen},
  journal={Haematologica},
  year={2012},
  volume={97 6},
  pages={890-4}
}
While most myelodysplastic syndrome/acute myeloid leukemia cases are sporadic, rare familial cases occur and provide some insight into leukemogenesis. The most clearly defined familial cases result from inherited mutations in RUNX1 or CEBPA. Recently, novel germline mutations in GATA2 have been reported. We, therefore, investigated individuals from families with one or more first-degree relatives with myelodysplastic syndrome/acute myeloid leukemia with wild-type RUNX1 and CEBPA, for GATA2… CONTINUE READING
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GATA2 is a new predisposition gene for familial myelodyplastic syndrome (MDS) and acute myeloid leukaemia (AML)

  • HS Scott, CN Hahn, +6 authors M. Lin
  • ASH Annual Meeting Abstracts
  • 2010
Highly Influential
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