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IDH1 and IDH2 mutations in gliomas.

Publication ,  Journal Article
Yan, H; Parsons, DW; Jin, G; McLendon, R; Rasheed, BA; Yuan, W; Kos, I; Batinic-Haberle, I; Jones, S; Riggins, GJ; Friedman, H; Friedman, A ...
Published in: N Engl J Med
February 19, 2009

BACKGROUND: A recent genomewide mutational analysis of glioblastomas (World Health Organization [WHO] grade IV glioma) revealed somatic mutations of the isocitrate dehydrogenase 1 gene (IDH1) in a fraction of such tumors, most frequently in tumors that were known to have evolved from lower-grade gliomas (secondary glioblastomas). METHODS: We determined the sequence of the IDH1 gene and the related IDH2 gene in 445 central nervous system (CNS) tumors and 494 non-CNS tumors. The enzymatic activity of the proteins that were produced from normal and mutant IDH1 and IDH2 genes was determined in cultured glioma cells that were transfected with these genes. RESULTS: We identified mutations that affected amino acid 132 of IDH1 in more than 70% of WHO grade II and III astrocytomas and oligodendrogliomas and in glioblastomas that developed from these lower-grade lesions. Tumors without mutations in IDH1 often had mutations affecting the analogous amino acid (R172) of the IDH2 gene. Tumors with IDH1 or IDH2 mutations had distinctive genetic and clinical characteristics, and patients with such tumors had a better outcome than those with wild-type IDH genes. Each of four tested IDH1 and IDH2 mutations reduced the enzymatic activity of the encoded protein. CONCLUSIONS: Mutations of NADP(+)-dependent isocitrate dehydrogenases encoded by IDH1 and IDH2 occur in a majority of several types of malignant gliomas.

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Published In

N Engl J Med

DOI

EISSN

1533-4406

Publication Date

February 19, 2009

Volume

360

Issue

8

Start / End Page

765 / 773

Location

United States

Related Subject Headings

  • Young Adult
  • Tumor Cells, Cultured
  • Oligodendroglioma
  • Neoplasms
  • Mutation
  • Kaplan-Meier Estimate
  • Isocitrate Dehydrogenase
  • Humans
  • Glioma
  • Glioblastoma
 

Citation

APA
Chicago
ICMJE
MLA
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Yan, H., Parsons, D. W., Jin, G., McLendon, R., Rasheed, B. A., Yuan, W., … Bigner, D. D. (2009). IDH1 and IDH2 mutations in gliomas. N Engl J Med, 360(8), 765–773. https://doi.org/10.1056/NEJMoa0808710
Yan, Hai, D Williams Parsons, Genglin Jin, Roger McLendon, B Ahmed Rasheed, Weishi Yuan, Ivan Kos, et al. “IDH1 and IDH2 mutations in gliomas.N Engl J Med 360, no. 8 (February 19, 2009): 765–73. https://doi.org/10.1056/NEJMoa0808710.
Yan H, Parsons DW, Jin G, McLendon R, Rasheed BA, Yuan W, et al. IDH1 and IDH2 mutations in gliomas. N Engl J Med. 2009 Feb 19;360(8):765–73.
Yan, Hai, et al. “IDH1 and IDH2 mutations in gliomas.N Engl J Med, vol. 360, no. 8, Feb. 2009, pp. 765–73. Pubmed, doi:10.1056/NEJMoa0808710.
Yan H, Parsons DW, Jin G, McLendon R, Rasheed BA, Yuan W, Kos I, Batinic-Haberle I, Jones S, Riggins GJ, Friedman H, Friedman A, Reardon D, Herndon J, Kinzler KW, Velculescu VE, Vogelstein B, Bigner DD. IDH1 and IDH2 mutations in gliomas. N Engl J Med. 2009 Feb 19;360(8):765–773.

Published In

N Engl J Med

DOI

EISSN

1533-4406

Publication Date

February 19, 2009

Volume

360

Issue

8

Start / End Page

765 / 773

Location

United States

Related Subject Headings

  • Young Adult
  • Tumor Cells, Cultured
  • Oligodendroglioma
  • Neoplasms
  • Mutation
  • Kaplan-Meier Estimate
  • Isocitrate Dehydrogenase
  • Humans
  • Glioma
  • Glioblastoma