Muir-Torre Syndrome / Turcot Syndrome overlap? A patient with sebaceous carcinoma, colon cancer, and a malignant astrocytoma.
The Muir-Torre Syndrome is characterized by the clinical constellation of sebaceous neoplasms, keratoacanthomas, and internal malignancies caused by a defect in DNA mismatch repair. Another mismatch repair defect causes Turcot syndrome, which manifests with colorectal and central nervous system neoplasms. We wish to report a case in which the manifestations of both syndromes were observed in the same patient. We further discuss the possible genetic basis for this overlap.
UC Davis Department of Dermatology, Sacramento, California, USA.
Rebecca
R
Kleinerman
John
J
Marino
Emmanuel
E
Loucas
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D018266:Adenocarcinoma, Sebaceous / Q000175:diagnosis; D001254:Astrocytoma / Q000175:diagnosis*; D001932:Brain Neoplasms / Q000175:diagnosis* / Q000235:genetics; D003110:Colonic Neoplasms / Q000175:diagnosis*; D015179:Colorectal Neoplasms / Q000175:diagnosis* / Q000235:genetics; D053843:DNA Mismatch Repair; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; 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; D009154:Mutation; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis* / Q000235:genetics; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis* / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D010375:Pedigree; D012626:Sebaceous Gland Neoplasms / Q000175:diagnosis*
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