Nature reviews. Clinical oncology · 2009
Cerebral primitive neuroectodermal tumor in an adult with a heterozygous MSH2 mutation.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Jeans Alexander F, Frayling Ian, Jasani Bharat, Side Lucy, Blesing Claire, Ansorge Olaf
Аннотация
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.
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.