Colorectal cancer and the Muir-Torre syndrome in a Gypsy family

A review

Henry T. Lynch, Robert Leibowitz, Thomas Christopher Smyrk, Ramon M. Fusaro, Jane F. Lynch, Anne Smith, Barbara Franklin, Alessandro Stella, Bo Liu

Research output: Contribution to journalArticle

32 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)575-580
Number of pages6
JournalAmerican Journal of Gastroenterology
Volume94
Issue number3
DOIs
StatePublished - Mar 1999
Externally publishedYes

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Muir-Torre Syndrome
Roma
Hereditary Nonpolyposis Colorectal Neoplasms
Germ-Line Mutation
Colorectal Neoplasms
Neoplasms
Genetic Counseling
Molecular Biology
Keratoacanthoma
Phenotype
Natural History
Adenoma
Carcinoma
Skin

ASJC Scopus subject areas

  • Gastroenterology

Cite this

Lynch, H. T., Leibowitz, R., Smyrk, T. C., Fusaro, R. M., Lynch, J. F., Smith, A., ... Liu, B. (1999). Colorectal cancer and the Muir-Torre syndrome in a Gypsy family: A review. American Journal of Gastroenterology, 94(3), 575-580. https://doi.org/10.1016/S0002-9270(98)00799-0

Colorectal cancer and the Muir-Torre syndrome in a Gypsy family : A review. / Lynch, Henry T.; Leibowitz, Robert; Smyrk, Thomas Christopher; Fusaro, Ramon M.; Lynch, Jane F.; Smith, Anne; Franklin, Barbara; Stella, Alessandro; Liu, Bo.

In: American Journal of Gastroenterology, Vol. 94, No. 3, 03.1999, p. 575-580.

Research output: Contribution to journalArticle

Lynch, HT, Leibowitz, R, Smyrk, TC, Fusaro, RM, Lynch, JF, Smith, A, Franklin, B, Stella, A & Liu, B 1999, 'Colorectal cancer and the Muir-Torre syndrome in a Gypsy family: A review', American Journal of Gastroenterology, vol. 94, no. 3, pp. 575-580. https://doi.org/10.1016/S0002-9270(98)00799-0
Lynch, Henry T. ; Leibowitz, Robert ; Smyrk, Thomas Christopher ; Fusaro, Ramon M. ; Lynch, Jane F. ; Smith, Anne ; Franklin, Barbara ; Stella, Alessandro ; Liu, Bo. / Colorectal cancer and the Muir-Torre syndrome in a Gypsy family : A review. In: American Journal of Gastroenterology. 1999 ; Vol. 94, No. 3. pp. 575-580.
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