[The tip of the iceberg: multiple cutaneous sebaceous tumor in colon cancer. Muir-Torre syndrome--case report]. / A jéghegy csúcsa: multiplex faggyúmirigy-eredetu bortumor coloncarcinomában. Muir-Torre-szindróma.
Orv Hetil
; 156(24): 979-84, 2015 Jun 14.
Article
en Hu
| MEDLINE
| ID: mdl-26051134
Muir-Torre syndrome is a rare genodermatosis with autosomal dominant inheritance. The syndrome is considered to be a subtype of the hereditary nonpolyposis colorectal cancer (or Lynch-syndrome). In two-third of the cases, it develops as the consequence of germline mutations in mismatch-repair genes--most commonly MutS Homolog-2 and MutL Homolog-1. Its diagnosis can be established if at least one sebaceous tumor (sebaceoma, sebaceous adenoma, epithelioma, carcinoma or basal-cell carcinoma with sebaceous differentiation) and/or keratoacanthoma and at least one internal neoplasm are present. Here the authors present the history of a 52-year-old man with multiple sebaceous carcinomas on his back. Immunohistochemical analysis showed the lack of MutL Homolog-1 protein expression in the tumor cells. Detailed clinical workup in order to identify internal malignancy found malignant coecum tumor. Histopathological evaluation of the sample from the right hemicolectomy revealed mid-grade adenocarcinoma with MutL Homolog-1 and postmeiotic segregation increased-2 deficiency. The detection of the cutaneous sebaceous carcinoma and the application of the modern diagnostic methods resulted in identification of the associated colorectal cancer in an early stage; hence, definitive treatment was available for the patient.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Adenocarcinoma
/
Biomarcadores de Tumor
/
Neoplasias del Colon
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Síndrome de Muir-Torre
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Humans
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Male
/
Middle aged
Idioma:
Hu
Revista:
Orv Hetil
Año:
2015
Tipo del documento:
Article
Pais de publicación:
Hungria