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


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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Figure 1: Histopathology of the cerebral tumor.
Figure 2: Immunohistochemistry for DNA mismatch repair proteins in the patient's cerebral and rectal tumors.
Figure 3: Pedigree of the patient's family.
Figure 4: Sequencing of MSH2 in somatic DNA from the patient.


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Désirée Lie, University of California, Irvine, CA, is the author of and is solely responsible for the content of the learning objectives, questions and answers of the Medscape-accredited continuing medical education activity associated with this article.

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Correspondence to Alexander F. Jeans.

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The authors declare no competing financial interests.

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Jeans, A., Frayling, I., Jasani, B. et al. Cerebral primitive neuroectodermal tumor in an adult with a heterozygous MSH2 mutation. Nat Rev Clin Oncol 6, 295–299 (2009). https://doi.org/10.1038/nrclinonc.2009.35

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