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- Title
Colorectal Cancer and the Muir-Torre Syndrome in a Gypsy Family: A Review.
- Authors
Lynch, Henry T.; Leibowitz, Robert; Smyrk, Thomas; Fusaro, Ramon M.; Lynch, Jane F.; Smith, Anne; Franklin, Barbara; Stella, Alessandro; Liu, Bo
- Abstract
OBJECTIVES: The Muir-Tone syndrome (MTS) is characterized by an autosomal dominant predilection to sebaceous adenomas, sebaceous carcinomas, and multiple keratoacanthomas, in concert with the cancer phenotype of hereditary nonpolyposis colorectal cancer (HNPCC). Proof that patients showing a familial aggregation of MTS's cutaneous signs in combination with a specific pattern of visceral cancers which are consonant with an HNPCC diagnosis has been buttressed by the discovery of <em>hMSH2</em> and <em>hMLH1</em> germ-line mutations in such families. Our purpose in this investigation was to determine the germ-line mutation in a Gypsy family with MTS in concert with HNPCC cancer features, and to provide genetic counseling. An added objective for this paper is to review the literature on MTS. METHODS: We describe a Gypsy family with MTS in concert with HNPCC cancer features, as well as the molecular genetic and genetic counseling procedures used in the interest of improved compliance with cancer control recommendations, We review the clinical phenotype, natural history, and molecular genetics involved in the MTS variant HNPCC. RESULTS: An <em>hMSH2</em> germ-line mutation was identified as the culprit germ-line mutation in this family. CONCLUSIONS: The presence of the hMSH2 germ-line mutation in this family provides powerful predictability of colorectal and other HNPCC integral cancers. The gastroenterologist must assume an important role in the diagnosis and management of MTS.
- Subjects
ADENOMA; CANCER; COLON cancer; RECTAL cancer; DIAGNOSIS
- Publication
American Journal of Gastroenterology (Springer Nature), 1999, Vol 94, Issue 3, p575
- ISSN
0002-9270
- Publication type
Article
- DOI
10.1111/j.1572-0241.1999.00918.x