Identifying Muir-Torre syndrome in a patient with glioblastoma multiforme.
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.
Park
Deric M
DM
University of Pittsburgh Cancer Institute, UPMC Cancer Pavilion, 5th floor, 5150 Centre Ave., Pittsburgh, PA 15232, USA. parkdm@upmc.edu
Yeaney
Gabrielle A
GA
Hamilton
Ronald L
RL
Mabold
Jennifer
J
Urban
Nikki
N
Appleman
Leonard
L
Flickinger
John
J
Lieberman
Frank
F
Mintz
Arlan
A
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
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