Muir-Torre Syndrome / Turcot Syndrome overlap? A patient with sebaceous carcinoma, colon cancer, and a malignant astrocytoma.

Abstract

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.

• Authors: Rebecca Kleinerman, John Marino, Emmanuel Loucas
• Journal: Dermatology online journal (Dermatol Online J) Vol. 18 Issue 5 Pg. 3 (May 15 2012) ISSN: 1087-2108 [Electronic] United States
• PMID: 22630573 (Publication Type: Case Reports, Journal Article)

Chemical References

• Adaptor Proteins, Signal Transducing
• MLH1 protein, human
• Nuclear Proteins
• MSH2 protein, human
• MutL Protein Homolog 1
• MutS Homolog 2 Protein

Topics

• Adaptor Proteins, Signal Transducing (genetics)
• Adenocarcinoma, Sebaceous (diagnosis)
• Astrocytoma (diagnosis)
• Brain Neoplasms (diagnosis, genetics)
• Colonic Neoplasms (diagnosis)
• Colorectal Neoplasms (diagnosis, genetics)
• DNA Mismatch Repair
• Diagnosis, Differential
• Female
• Humans
• Male
• Middle Aged
• Muir-Torre Syndrome (diagnosis, genetics)
• MutL Protein Homolog 1
• MutS Homolog 2 Protein (genetics)
• Mutation
• Neoplasms, Multiple Primary (diagnosis, genetics)
• Neoplastic Syndromes, Hereditary (diagnosis, genetics)
• Nuclear Proteins (genetics)
• Pedigree
• Sebaceous Gland Neoplasms (diagnosis)