Malignant peripheral nerve sheath tumor in cowden syndrome: a first report

Journal of Neuropathology and Experimental Neurology
Amy TaylorMarc Tischkowitz

Abstract

Malignant peripheral nerve sheath tumor is a rare malignancy, accounting for 3% to 10% of all soft-tissue sarcomas. We describe a previously healthy 48-year-old man who was diagnosed as having a high-grade malignant neoplasm involving the facial nerve in the right petrous canal after a 4-year history of deafness. The tumor was resected; histologic appearance and immunophenotype, including patchy but strong positivity for S100 protein, indicated a diagnosis of malignant peripheral nerve sheath tumor. A PTEN mutation, c.1003C>T p.(Arg335Ter), was subsequently identified as the cause of Cowden syndrome in another family member (a nephew) with dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease), and genetic testing in the proband's daughter indicated that he was an obligate carrier of the mutation. Sequencing of the tumor showed homozygosity for c.1003C>T, confirming the presence of a germline mutation and implying loss of the second allele. With the exception of Lhermitte-Duclos disease, tumors of the nervous system are not a prominent feature of Cowden syndrome, and this is the first report of malignant peripheral nerve sheath tumor in Cowden syndrome. Sequencing results in the tumor lend evidence to PTEN gene i...Continue Reading

References

Mar 11, 2005·Medicine·Catherine LokUNKNOWN Cancerology Group of the French Society of Dermatology
Jan 2, 2008·Drug Resistance Updates : Reviews and Commentaries in Antimicrobial and Anticancer Chemotherapy·Jaclyn LoPiccoloPhillip A Dennis
Mar 25, 2011·Nature Reviews. Cancer·M Christine HollanderPhillip A Dennis
Jan 22, 2013·Journal of Medical Genetics·Virginie BubienUNKNOWN French Cowden Disease Network
Jun 26, 2013·Pediatric Neurosurgery·Kalliopi StefanakiNeofytos Prodromou
Oct 19, 2013·Journal of the National Cancer Institute·Robert PilarskiElizabeth Swisher
Oct 13, 2014·Nature Genetics·Ming ZhangChetan Bettegowda

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