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  • Hasle, HenrikAarhus Univ Hosp, Dept Pediat, Palle Juul Jensens Blvd 99, DK-8200 Aarhus N, Denmark. (author)

Germline GATA1s-generating mutations predispose to leukemia with acquired trisomy 21 and Down syndrome-like phenotype

  • Article/chapterEnglish2022

Publisher, publication year, extent ...

  • American Society of Hematology,2022
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-478824
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-478824URI
  • https://doi.org/10.1182/blood.2021011463DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Individuals with Down syndrome are at increased risk of myeloid leukemia in early childhood, which is associated with acquisition of GATA1 mutations that generate a short GATA1 isoform called GATA1s. Germline GATA1s-generating mutations result in congenital anemia in males. We report on 2 unrelated families that harbor germline GATA1s-generating mutations in which several members developed acute megakaryoblastic leukemia in early childhood. All evaluable leukemias had acquired trisomy 21 or tetrasomy 21. The leukemia characteristics overlapped with those of myeloid leukemia associated with Down syndrome, including age of onset at younger than 4 years, unique immunophenotype, complex karyotype, gene expression patterns, and drug sensitivity. These findings demonstrate that the combination of trisomy 21 and GATA1s-generating mutations results in a unique myeloid leukemia independent of whether the GATA1 mutation or trisomy 21 is the primary or secondary event and suggest that there is a unique functional cooperation between GATA1s and trisomy 21 in leukemogenesis. The family histories also indicate that germline GATA1s-generating mutations should be included among those associated with familial predisposition for myelodysplastic syndrome and leukemia.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Kline, Ronald M.US Off Personnel Management, Healthcare & Insurance Program, Washington, DC USA. (author)
  • Kjeldsen, EigilAarhus Univ Hosp, Dept Hematol, Aarhus, Denmark. (author)
  • Nik-Abdul-Rashid, Nik F.Sickle Cell Ctr Nevada, Hemostasis & Thrombosis Ctr Nevada, Las Vegas, NV USA. (author)
  • Bhojwani, DeepaUniv Southern Calif, Childrens Hosp Los Angeles, Norris Comprehens Canc Ctr, Keck Sch Med,Div Hematol Oncol, Los Angeles, CA 90007 USA. (author)
  • Verboon, Jeffrey M.Harvard Med Sch, Boston Childrens Hosp, Dana Farber Canc Inst, Div Pediat Hematol Oncol, Boston, MA 02115 USA.;Broad Inst MIT & Harvard, Cambridge, MA 02142 USA. (author)
  • DiTroia, Stephanie P.Broad Inst MIT & Harvard, Cambridge, MA 02142 USA. (author)
  • Chao, Katherine R.Broad Inst MIT & Harvard, Cambridge, MA 02142 USA. (author)
  • Raaschou-Jensen, KlasUniv Southern Denmark, Odense Univ Hosp, Dept Hematol, Odense, Denmark. (author)
  • Palle, Josefine,1964-Uppsala universitet,Barnonkologisk och neurologisk forskning(Swepub:uu)jopal516 (author)
  • Zwaan, C. MichelErasmus MC, Sophia Childrens Hosp, Dept Pediat Oncol, Rotterdam, Netherlands.;Princess Maxima Ctr Pediat Oncol, Utrecht, Netherlands. (author)
  • Nyvold, Charlotte GuldborgUniv Southern Denmark, Odense Univ Hosp, Res Unit Hematol & Pathol, Hematol Pathol Res Lab, Odense, Denmark. (author)
  • Sankaran, Vijay G.Harvard Med Sch, Boston Childrens Hosp, Dana Farber Canc Inst, Div Pediat Hematol Oncol, Boston, MA 02115 USA.;Broad Inst MIT & Harvard, Cambridge, MA 02142 USA.;Harvard Stem Cell Inst, Cambridge, MA USA. (author)
  • Cantor, Alan B.Harvard Med Sch, Boston Childrens Hosp, Dana Farber Canc Inst, Div Pediat Hematol Oncol, Boston, MA 02115 USA.;Harvard Stem Cell Inst, Cambridge, MA USA. (author)
  • Aarhus Univ Hosp, Dept Pediat, Palle Juul Jensens Blvd 99, DK-8200 Aarhus N, Denmark.US Off Personnel Management, Healthcare & Insurance Program, Washington, DC USA. (creator_code:org_t)

Related titles

  • In:Blood: American Society of Hematology139:21, s. 3159-31650006-49711528-0020

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