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  • Giefing, MaciejPolish Acad Sci, Inst Human Genet, Strzeszynska 32, PL-60479 Poznan, Poland.;Christian Albrechts Univ Kiel, Inst Human Genet, Kiel, Germany.;Univ Hosp Schleswig Holstein, Kiel, Germany. (author)

Loss of function mutations of BCOR in classical Hodgkin lymphoma

  • Article/chapterEnglish2022

Publisher, publication year, extent ...

  • 2021-12-27
  • Informa UK Limited,2022
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-479422
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-479422URI
  • https://doi.org/10.1080/10428194.2021.2015587DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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

Notes

  • BCOR is a component of a variant Polycomb repressive complex 1 (PRC1.1). PRC1 and PRC2 complexes together constitute a major gene regulatory system critical for appropriate cellular differentiation. The gene is upregulated in germinal center (GC) B cells and mutated in a number of hematologic malignancies. We report BCOR inactivating alterations in 4/7 classic Hodgkin lymphoma (cHL) cell lines, subclonal somatic mutations in Hodgkin and Reed-Sternberg (HRS) cells of 4/10 cHL cases, and deletions in HRS cells of 7/17 primary cHL cases. In mice, conditional loss of Bcor driven by AID-Cre in GC B cells resulted in gene expression changes of 46 genes (>2-fold) including upregulated Lef1 that encodes a transcription factor responsible for establishing T-cell identity and Il9r (interleukin-9 receptor), an important member of the cytokine network in cHL. Our findings suggest a role for BCOR loss in cHL pathogenesis and GC-B cell homeostasis.

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

  • Gearhart, Micah D.Univ Minnesota, Masonic Canc Ctr, Dept Genet Cell Biol & Dev, Minneapolis, MN USA.;Univ Minnesota, Dev Biol Ctr, Minneapolis, MN USA. (author)
  • Schneider, MarkusUniv Duisburg Essen, Med Fac, Inst Cell Biol Canc Res, Essen, Germany.;Deutsch Konsortium Translat Krebsforsch DKTK, Heidelberg, Germany.;Univ Childrens Hosp Essen, Dept Pediat Hematol & Oncol, Essen, Germany. (author)
  • Overbeck, BirteChristian Albrechts Univ Kiel, Inst Human Genet, Kiel, Germany.;Univ Hosp Schleswig Holstein, Kiel, Germany. (author)
  • Klapper, WolframChristian Albrechts Univ Kiel, Dept Pathol, Haematopathol Sect, Kiel, Germany.;Christian Albrechts Univ Kiel, Lymph Node Registry, Kiel, Germany. (author)
  • Hartmann, SylviaGoethe Univ Frankfurt, Dr Senckenberg Inst Pathol, Med Sch, Reference & Consultant Ctr Lymph Node & Lymphoma, Frankfurt, Germany. (author)
  • Ustaszewski, AdamPolish Acad Sci, Inst Human Genet, Strzeszynska 32, PL-60479 Poznan, Poland. (author)
  • Weniger, Marc A.Univ Duisburg Essen, Med Fac, Inst Cell Biol Canc Res, Essen, Germany.;Deutsch Konsortium Translat Krebsforsch DKTK, Heidelberg, Germany. (author)
  • Wiehle, LauraUniv Ulm, Inst Human Genet, Ulm, Germany.;Univ Ulm, Med Ctr, Ulm, Germany. (author)
  • Hansmann, Martin-LeoGoethe Univ Frankfurt, Dr Senckenberg Inst Pathol, Med Sch, Reference & Consultant Ctr Lymph Node & Lymphoma, Frankfurt, Germany. (author)
  • Melnick, AriWeill Cornell Med, Dept Med, Div Hematol Oncol, New York, NY USA. (author)
  • Beguelin, WendyWeill Cornell Med, Dept Med, Div Hematol Oncol, New York, NY USA. (author)
  • Sundström, ChristerUppsala universitet,Klinisk och experimentell patologi(Swepub:uu)chrisund (author)
  • Küppers, RalfUniv Duisburg Essen, Med Fac, Inst Cell Biol Canc Res, Essen, Germany.;Deutsch Konsortium Translat Krebsforsch DKTK, Heidelberg, Germany. (author)
  • Bardwell, Vivian J.Univ Minnesota, Masonic Canc Ctr, Dept Genet Cell Biol & Dev, Minneapolis, MN USA.;Univ Minnesota, Dev Biol Ctr, Minneapolis, MN USA. (author)
  • Siebert, ReinerChristian Albrechts Univ Kiel, Inst Human Genet, Kiel, Germany.;Univ Hosp Schleswig Holstein, Kiel, Germany.;Univ Ulm, Inst Human Genet, Ulm, Germany.;Univ Ulm, Med Ctr, Ulm, Germany. (author)
  • Polish Acad Sci, Inst Human Genet, Strzeszynska 32, PL-60479 Poznan, Poland.;Christian Albrechts Univ Kiel, Inst Human Genet, Kiel, Germany.;Univ Hosp Schleswig Holstein, Kiel, Germany.Univ Minnesota, Masonic Canc Ctr, Dept Genet Cell Biol & Dev, Minneapolis, MN USA.;Univ Minnesota, Dev Biol Ctr, Minneapolis, MN USA. (creator_code:org_t)

Related titles

  • In:Leukemia and Lymphoma: Informa UK Limited63:5, s. 1080-10901042-81941029-2403

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