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Cerebral primitive neuroectodermal tumor in an adult with a heterozygous MSH2 mutation
Alexander F Jeans1, Ian Frayling, Bharat Jasani
1Department of Neuropathology, John Radcliffe Hospital, Oxford, UK. alexander.jeans@orh.nhs.uk
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.
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