title: Identifying Muir-Torre syndrome in a patient with glioblastoma multiforme.
abstract: Patients with Muir-Torre syndrome, an autosomal-dominant familial tumor condition caused by germline mutation of the DNA mismatch repair genes, MSH2 or MLH1, present with tumors of the sebaceous gland and visceral malignancies characterized by microsatellite instability. Here we show development of glioblastoma multiforme in a patient with Muir-Torre syndrome. Immunohistochemical analysis of the brain tumor and colon cancer revealed loss of the DNA mismatch repair gene detected by the genetic test, suggesting a pathogenic link.
authors.affiliation: University of Pittsburgh Cancer Institute, UPMC Cancer Pavilion, 5th floor, 5150 Centre Ave., Pittsburgh, PA 15232, USA. parkdm@upmc.edu
authors.forename: Deric M
authors.initials: DM
authors.lastname: Park
authors.forename: Gabrielle A
authors.initials: GA
authors.lastname: Yeaney
authors.forename: Ronald L
authors.initials: RL
authors.lastname: Hamilton
authors.forename: Jennifer
authors.initials: J
authors.lastname: Mabold
authors.forename: Nikki
authors.initials: N
authors.lastname: Urban
authors.forename: Leonard
authors.initials: L
authors.lastname: Appleman
authors.forename: John
authors.initials: J
authors.lastname: Flickinger
authors.forename: Frank
authors.initials: F
authors.lastname: Lieberman
authors.forename: Arlan
authors.initials: A
authors.lastname: Mintz
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005909:Glioblastoma / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D055653:Muir-Torre Syndrome / Q000175:diagnosis* / Q000235:genetics; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D010375:Pedigree
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C501486:MLH1 protein, human; D009687:Nuclear Proteins; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein