In:
Orvosi Hetilap, Akademiai Kiado Zrt., Vol. 156, No. 24 ( 2015-06), p. 979-984
Abstract:
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. Orv. Hetil., 2015, 156(24), 979–984.
Type of Medium:
Online Resource
ISSN:
0030-6002
,
1788-6120
DOI:
10.1556/650.2015.30165
Language:
Hungarian
Publisher:
Akademiai Kiado Zrt.
Publication Date:
2015
detail.hit.zdb_id:
123879-6
detail.hit.zdb_id:
2492699-1
Bookmarklink