Tags

Type your tag names separated by a space and hit enter

Colorectal cancer and the Muir-Torre syndrome in a Gypsy family: a review.
Am J Gastroenterol. 1999 Mar; 94(3):575-80.AJ

Abstract

OBJECTIVES

The Muir-Torre 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 hMSH2 and hMLH1 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 hMSH2 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.

Authors+Show Affiliations

Department of Preventive Medicine, Creighton University School of Medicine, Omaha, Nebraska 68178, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

10086635

Citation

Lynch, H T., et al. "Colorectal Cancer and the Muir-Torre Syndrome in a Gypsy Family: a Review." The American Journal of Gastroenterology, vol. 94, no. 3, 1999, pp. 575-80.
Lynch HT, Leibowitz R, Smyrk T, et al. Colorectal cancer and the Muir-Torre syndrome in a Gypsy family: a review. Am J Gastroenterol. 1999;94(3):575-80.
Lynch, H. T., Leibowitz, R., Smyrk, T., Fusaro, R. M., Lynch, J. F., Smith, A., Franklin, B., Stella, A., & Liu, B. (1999). Colorectal cancer and the Muir-Torre syndrome in a Gypsy family: a review. The American Journal of Gastroenterology, 94(3), 575-80.
Lynch HT, et al. Colorectal Cancer and the Muir-Torre Syndrome in a Gypsy Family: a Review. Am J Gastroenterol. 1999;94(3):575-80. PubMed PMID: 10086635.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Colorectal cancer and the Muir-Torre syndrome in a Gypsy family: a review. AU - Lynch,H T, AU - Leibowitz,R, AU - Smyrk,T, AU - Fusaro,R M, AU - Lynch,J F, AU - Smith,A, AU - Franklin,B, AU - Stella,A, AU - Liu,B, PY - 1999/3/23/pubmed PY - 1999/3/23/medline PY - 1999/3/23/entrez SP - 575 EP - 80 JF - The American journal of gastroenterology JO - Am J Gastroenterol VL - 94 IS - 3 N2 - OBJECTIVES: The Muir-Torre 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 hMSH2 and hMLH1 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 hMSH2 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. SN - 0002-9270 UR - https://www.unboundmedicine.com/medline/citation/10086635/Colorectal_cancer_and_the_Muir_Torre_syndrome_in_a_Gypsy_family:_a_review_ L2 - https://Insights.ovid.com/pubmed?pmid=10086635 DB - PRIME DP - Unbound Medicine ER -