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

Jeans, Alexander F., Frayling, Ian Martin, Jasani, Bharat, Side, Lucy, Blesing, Claire and Ansorge, Olaf 2009. Cerebral primitive neuroectodermal tumor in an adult with a heterozygous MSH2 mutation. Nature Reviews Clinical Oncology 6 (5) , pp. 295-299. 10.1038/nrclinonc.2009.35

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Abstract

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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer)
Publisher:	Nature Publishing Group
ISSN:	1759-4774
Last Modified:	18 Mar 2023 02:07
URI:	https://orca.cardiff.ac.uk/id/eprint/30324

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