Cerebral primitive neuroectodermal tumor in an adult with a heterozygous MSH2 mutation

Nat Rev Clin Oncol. 2009 May;6(5):295-9. doi: 10.1038/nrclinonc.2009.35.


Background: A 37-year-old woman presented with a supratentorial cerebral mass, which was diagnosed histologically as a primitive neuroectodermal tumor. She had been treated for rectal adenocarcinoma 7 years previously. A family history revealed a young-onset colorectal carcinoma in the patient's father.

Investigations: Immunohistochemical analysis for DNA mismatch repair proteins, germline mutation analysis of MSH2.

Diagnosis: Lynch syndrome with a heterozygous germline mutation in MSH2.

Management: Debulking of the cerebral tumor, craniospinal axis radiotherapy, and genetic counseling of family.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • DNA Mismatch Repair / genetics
  • DNA Mutational Analysis
  • Fatal Outcome
  • Female
  • Germ-Line Mutation
  • Heterozygote*
  • Humans
  • Immunohistochemistry
  • MutS Homolog 2 Protein / genetics*
  • Mutation*
  • Neuroectodermal Tumors, Primitive / diagnosis
  • Neuroectodermal Tumors, Primitive / diagnostic imaging
  • Neuroectodermal Tumors, Primitive / genetics*
  • Neuroectodermal Tumors, Primitive / radiotherapy
  • Pedigree
  • Radiography
  • Sequence Analysis, DNA


  • MutS Homolog 2 Protein