title: Simultaneous Muir-Torre and Turcot's syndrome: A case report and review of the literature.
abstract: BACKGROUND
  Muir-Torre syndrome (MTS) is an autosomal dominant syndrome characterized by neoplasms of the sebaceous gland or keratoacanthomas, in addition to visceral malignancies. Cerebral neoplasms in patients with hereditary nonpolyposis colorectal cancer (HNPCC) or familial adenomatous polyposis suffer from Turcot's syndrome. Genetic mutations in MutS homolog (MSH)-2, MutL homolog (MLH)-1, and MutS homolog (MSH)-6 DNA mismatch repair genes are the most common in MTS with MSH-2 being the most predominant. In HNPCC MLH-1 and MSH-2 mutations are approximately equal in prevalence.
  
  
  METHODS
  We present the case of a 58-year-old male with a prior history of being treated for colonic adenocarcinoma and skin lesions leading to a diagnosis of MTS. The patient later developed a World Health Organization (WHO) grade 4 glioma requiring surgical resection. Pathology revealed mutations in MSH-2 and MSH-6 mismatch repair genes.
  
  
  CONCLUSIONS
  This case represents the first report of Turcot's and MTS with extensive molecular testing on the cerebral neoplasm demonstrating a molecular relationship between Turcot's and MTS and only the second published report of simultaneous Turcot's and MTS.
authors: Department of Neurological Surgery, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
authors: Ramesh
authors: R
authors: Grandhi
authors: Christopher P
authors: CP
authors: Deibert
authors: Stephen M
authors: SM
authors: Pirris
authors: Barry
authors: B
authors: Lembersky
authors: Arlan H
authors: AH
authors: Mintz
keywords: Glioblastoma multiforme; Muir-Torre syndrome; MutS homolog-2; Turcot's syndrome
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