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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