About: Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival     Goto   Sponge   NotDistinct   Permalink

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Description
  • 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 mutations. Screening for other recurrent mutations was also performed. A GATA2 p. Thr354Met mutation was observed in a pedigree in which 2 first-degree cousins developed high-risk myelodysplastic syndrome with monosomy 7. They were also observed to have acquired identical somatic ASXL1 mutations and both died despite stem cell transplantation. These findings confirm that germline GATA2 mutations predispose to familial myelodysplastic syndrome/acute myeloid leukemia, and that monosomy 7 and ASXL1 mutations may be recurrent secondary genetic abnormalities triggering overt malignancy in these families.
  • 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 mutations. Screening for other recurrent mutations was also performed. A GATA2 p. Thr354Met mutation was observed in a pedigree in which 2 first-degree cousins developed high-risk myelodysplastic syndrome with monosomy 7. They were also observed to have acquired identical somatic ASXL1 mutations and both died despite stem cell transplantation. These findings confirm that germline GATA2 mutations predispose to familial myelodysplastic syndrome/acute myeloid leukemia, and that monosomy 7 and ASXL1 mutations may be recurrent secondary genetic abnormalities triggering overt malignancy in these families. (en)
Title
  • Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival
  • Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival (en)
skos:prefLabel
  • Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival
  • Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival (en)
skos:notation
  • RIV/00216208:11130/12:8167!RIV13-MSM-11130___
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • I
http://linked.open...iv/cisloPeriodika
  • 6
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 138122
http://linked.open...ai/riv/idVysledku
  • RIV/00216208:11130/12:8167
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • familial; myelodysplastic syndromes; GATA2; monosomy 7; acute myeloid-leukemia; chronic myelomonocytic leukemia; acute myelogenous leukemia; sporadic monocytopenia; autosomal-dominant; platelet disorder; predisposition; propensity; gene (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV
  • [4EFA5072D3A7]
http://linked.open...i/riv/nazevZdroje
  • Haematologica-The Hematology Journal
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 97
http://linked.open...iv/tvurceVysledku
  • Barnett, M. J.
  • Bodor, C.
  • Cavenagh, J.
  • Charazac, A.
  • Etancelin, P.
  • Fitzgibbon, J.
  • Iqbal, S.
  • Kramarzová, Karolina
  • Krishnan, B.
  • Matolcsy, A.
  • Owen, C.
  • Preudhomme, C.
  • Renneville, A.
  • Smith, M.
http://linked.open...ain/vavai/riv/wos
  • 000306066500019
issn
  • 0390-6078
number of pages
http://localhost/t...ganizacniJednotka
  • 11130
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