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Immunohistochemistry screening of sebaceous lesions for Muir-Torre syndrome in a 26-year period in a Mexican population.
Dermatol Online J. 2008 Dec 15; 14(12):1.DO

Abstract

Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis defined as the association of rare sebaceous gland skin tumors, keratoacanthomas, and a personal or familial history of malignant visceral tumors. Germline mutations in certain mismatch repair genes (MMR) have been identified in MTS families and their identification is a cornerstone for diagnosis of MTS. We reviewed our series of sebaceous neoplasms and performed immunohistochemistry (IHC) in order to screen for new MTS cases. Sebaceous neoplasms and visceral tumors from the same patient diagnosed between 1980-2006 were included. Immunohistochemistry to determine the presence or absence of MMR gene products in skin and visceral tumors was performed with mouse monoclonal antibodies anti-MSH2, anti-MSH6 and anti-MLH1. Six sebaceous neoplasms were identified in six females. Four patients presented a lack of expression of at least one of the MMR proteins in visceral and cutaneous neoplasms, thus warranting the diagnosis of MTS. Immunohistochemistry is a useful and accessible technique for the characterization of MMR gene expression in patients with sebaceous neoplasms.

Authors+Show Affiliations

Dermatology Department, Instituto Nacional de Ciencias Médicas y Nutrición, Mexico City, Mexico. carla_archer@yahoo.comNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

19265614

Citation

Archer-Dubon, Carla, et al. "Immunohistochemistry Screening of Sebaceous Lesions for Muir-Torre Syndrome in a 26-year Period in a Mexican Population." Dermatology Online Journal, vol. 14, no. 12, 2008, p. 1.
Archer-Dubon C, Alvarez-Zavala B, Reyes E, et al. Immunohistochemistry screening of sebaceous lesions for Muir-Torre syndrome in a 26-year period in a Mexican population. Dermatol Online J. 2008;14(12):1.
Archer-Dubon, C., Alvarez-Zavala, B., Reyes, E., & Orozco-Topete, R. (2008). Immunohistochemistry screening of sebaceous lesions for Muir-Torre syndrome in a 26-year period in a Mexican population. Dermatology Online Journal, 14(12), 1.
Archer-Dubon C, et al. Immunohistochemistry Screening of Sebaceous Lesions for Muir-Torre Syndrome in a 26-year Period in a Mexican Population. Dermatol Online J. 2008 Dec 15;14(12):1. PubMed PMID: 19265614.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Immunohistochemistry screening of sebaceous lesions for Muir-Torre syndrome in a 26-year period in a Mexican population. AU - Archer-Dubon,Carla, AU - Alvarez-Zavala,Bertha, AU - Reyes,Edgardo, AU - Orozco-Topete,Rocio, Y1 - 2008/12/15/ PY - 2009/3/7/entrez PY - 2008/1/1/pubmed PY - 2009/4/10/medline SP - 1 EP - 1 JF - Dermatology online journal JO - Dermatol Online J VL - 14 IS - 12 N2 - Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis defined as the association of rare sebaceous gland skin tumors, keratoacanthomas, and a personal or familial history of malignant visceral tumors. Germline mutations in certain mismatch repair genes (MMR) have been identified in MTS families and their identification is a cornerstone for diagnosis of MTS. We reviewed our series of sebaceous neoplasms and performed immunohistochemistry (IHC) in order to screen for new MTS cases. Sebaceous neoplasms and visceral tumors from the same patient diagnosed between 1980-2006 were included. Immunohistochemistry to determine the presence or absence of MMR gene products in skin and visceral tumors was performed with mouse monoclonal antibodies anti-MSH2, anti-MSH6 and anti-MLH1. Six sebaceous neoplasms were identified in six females. Four patients presented a lack of expression of at least one of the MMR proteins in visceral and cutaneous neoplasms, thus warranting the diagnosis of MTS. Immunohistochemistry is a useful and accessible technique for the characterization of MMR gene expression in patients with sebaceous neoplasms. SN - 1087-2108 UR - https://www.unboundmedicine.com/medline/citation/19265614/Immunohistochemistry_screening_of_sebaceous_lesions_for_Muir_Torre_syndrome_in_a_26_year_period_in_a_Mexican_population_ L2 - http://dermatology.cdlib.org/1412/originals/muir_torre/archer.html DB - PRIME DP - Unbound Medicine ER -