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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.

Original publication




Journal article


Nat Rev Clin Oncol

Publication Date





295 - 299


Adult, Colorectal Neoplasms, Hereditary Nonpolyposis, DNA Mismatch Repair, DNA Mutational Analysis, Fatal Outcome, Female, Germ-Line Mutation, Heterozygote, Humans, Immunohistochemistry, MutS Homolog 2 Protein, Mutation, Neuroectodermal Tumors, Primitive, Pedigree, Radiography, Sequence Analysis, DNA