title: Muir-torre syndrome with intriguing squamous lesions: a case report and review of the literature.
abstract: Muir-Torre syndrome (MTS) is an autosomal, dominantly inherited disorder characterized by sebaceous neoplasms and visceral malignancies. We report a 56-year-old woman who underwent resections of extraocular sebaceous carcinoma, sebaceous epithelioma, actinic keratosis, and keratoacanthoma (KA)-like squamous cell carcinoma (SCC) with venous invasion metachronously over a 9-year period. Because of the mixed, unusual features of the skin lesions, and her history of endometrial and colorectal cancers that had been resected 12 years and 1 year, respectively, before the present event, a possible diagnosis of Muir-Torre syndrome was suggested. Immunohistochemical studies revealed loss of hMSH2 expression in all the cutaneous lesions including the actinic keratosis, and also in the endometrial and colorectal cancers. This patient presented with intriguing squamous lesions including keratoacanthoma-like squamous cell carcinoma that showed venous invasion and actinic keratosis, and associated loss of hMSH2 expression, in addition to the sebaceous neoplasms typical of Muir-Torre syndrome.
authors.affiliation: Pathology Division, National Cancer Center Research Institute, Tokyo, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Nishizawa
authors.forename: Y
authors.initials: Y
authors.lastname: Nakanishi
authors.forename: Y
authors.initials: Y
authors.lastname: Sasajima
authors.forename: N
authors.initials: N
authors.lastname: Yamazaki
authors.forename: A
authors.initials: A
authors.lastname: Yamamoto
mesh_terms: D018266:Adenocarcinoma, Sebaceous / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D014408:Biomarkers, Tumor / Q000378:metabolism; D002294:Carcinoma, Squamous Cell / Q000235:genetics / Q000473:pathology; D002467:Cell Nucleus / Q000378:metabolism / Q000473:pathology; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007636:Keratoacanthoma / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D019656:Loss of Heterozygosity; D008875:Middle Aged; D051718:MutS Homolog 2 Protein / Q000235:genetics / Q000378:metabolism; D012626:Sebaceous Gland Neoplasms / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D013577:Syndrome
chemical_list: D014408:Biomarkers, Tumor; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein