Login / Signup

Diagnostic and therapeutic challenges of glioblastoma as an initial malignancy of constitutional mismatch repair deficiency (CMMRD): two case reports and a literature review.

Shumpei OnishiFumiyuki YamasakiKazuya KuraokaAkira TaguchiTakeshi TakayasuKiwamu AkagiTakao Hinoi
Published in: BMC medical genomics (2023)
Conventional multi-gene panel tests are insufficient for detecting large deletions of MMR genes, resulting in misdiagnoses of CMMRD as Lynch syndrome. PMS2 variants have low cancer penetrance; family histories may thus be absent. Long-range gene analyses or immunohistochemical staining of MMR proteins in normal tissue should be considered for pediatric brain tumors with a single allele MMR variant when CMMRD is suspected.
Keyphrases
  • copy number
  • case report
  • genome wide
  • genome wide identification
  • papillary thyroid
  • genome wide analysis
  • dna methylation
  • gene expression