title: Immunohistochemistry screening of sebaceous lesions for Muir-Torre syndrome in a 26-year period in a Mexican population.
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.affiliation: Dermatology Department, Instituto Nacional de Ciencias Médicas y Nutrición, Mexico City, Mexico. carla_archer@yahoo.com
authors.forename: Carla
authors.initials: C
authors.lastname: Archer-Dubon
authors.forename: Bertha
authors.initials: B
authors.lastname: Alvarez-Zavala
authors.forename: Edgardo
authors.initials: E
authors.lastname: Reyes
authors.forename: Rocio
authors.initials: R
authors.lastname: Orozco-Topete
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000172:deficiency / Q000235:genetics; D000236:Adenoma / Q000175:diagnosis* / Q000378:metabolism; D000911:Antibodies, Monoclonal; D002277:Carcinoma / Q000175:diagnosis* / Q000378:metabolism; D053843:DNA Mismatch Repair; D004268:DNA-Binding Proteins / Q000172:deficiency / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005770:Gastrointestinal Neoplasms / Q000150:complications; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D008297:Male; D008800:Mexico; D008875:Middle Aged; D055653:Muir-Torre Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000172:deficiency / Q000235:genetics; D009154:Mutation; D009687:Nuclear Proteins / Q000172:deficiency / Q000235:genetics; D012626:Sebaceous Gland Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism; D012627:Sebaceous Glands / Q000378:metabolism* / Q000473:pathology
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D000911:Antibodies, Monoclonal; D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein; C501486:MLH1 protein, human; D009687:Nuclear Proteins; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein