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High-grade brain tumors in siblings with biallelic MSH6 mutations.

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  • Author(s): Ilencikova D;Ilencikova D; Sejnova D; Jindrova J; Babal P
  • Source:
    Pediatric blood & cancer [Pediatr Blood Cancer] 2011 Dec 01; Vol. 57 (6), pp. 1067-70. Date of Electronic Publication: 2011 Jun 14.
  • Publication Type:
    Case Reports; Journal Article
  • Language:
    English
  • معلومة اضافية
    • Source:
      Publisher: John Wiley Country of Publication: United States NLM ID: 101186624 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-5017 (Electronic) Linking ISSN: 15455009 NLM ISO Abbreviation: Pediatr Blood Cancer Subsets: MEDLINE
    • Publication Information:
      Original Publication: Hoboken, N.J. : John Wiley, c 2004-
    • Subject Terms:
    • Abstract:
      Biallelic germline mutations of Constitutional mismatch repair-deficiency syndrome (CMMR-D) genes, MLH1, MSH2, MSH6, and PMS2 are characterized by increased risk of childhood malignancy. We report a case with CMMR-D caused by novel homozygous MSH6 mutations leading to gliomatosis cerebri and T-ALL in an 11-year-old female and glioblastoma multiforme in her 10-year-old brother, both with rapid progression of the diseases. A literature review on brain tumors in CMMR-D families shows that they are treatment-resistant and lead to early death. Identification of patients with CMMR-D is critical, and specific cancer screening programs with early surgery are recommended.
      (Copyright © 2011 Wiley-Liss, Inc.)
    • Accession Number:
      0 (DNA-Binding Proteins)
      0 (G-T mismatch-binding protein)
    • Publication Date:
      Date Created: 20110616 Date Completed: 20120106 Latest Revision: 20110912
    • Publication Date:
      20210210
    • Accession Number:
      10.1002/pbc.23217
    • Accession Number:
      21674763