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1.
Orv Hetil ; 156(24): 979-84, 2015 Jun 14.
Artigo em Húngaro | MEDLINE | ID: mdl-26051134

RESUMO

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.


Assuntos
Adenocarcinoma/diagnóstico , Biomarcadores Tumorais/isolamento & purificação , Neoplasias do Colo/diagnóstico , Síndrome de Muir-Torre/etiologia , Proteínas Adaptadoras de Transdução de Sinal/isolamento & purificação , Adenocarcinoma/química , Adenocarcinoma/complicações , Adenocarcinoma/patologia , Neoplasias do Colo/química , Neoplasias do Colo/complicações , Neoplasias do Colo/patologia , Proteínas de Ligação a DNA/isolamento & purificação , Diagnóstico Diferencial , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Síndrome de Muir-Torre/metabolismo , Proteína 1 Homóloga a MutL , Proteína 2 Homóloga a MutS/isolamento & purificação , Proteína 3 Homóloga a MutS , Proteínas Nucleares/isolamento & purificação
2.
Orv Hetil ; 151(25): 1028-34, 2010 Jun 20.
Artigo em Húngaro | MEDLINE | ID: mdl-20519188

RESUMO

The authors report a new method which was introduced last year in their unit. In a significant part of cholecystolithiasis, choledocholithiasis also exists. The diagnosis is sometimes fairly difficult, in these cases newly developed imaging methods (magnetic resonance cholangiopancreatography, endoscopic ultrasonography) can help. In cases of choledocholithiasis, when preoperative endoscopic retrograde cholangiopancreatography (ERCP) is unsuccessful, laparoscopic endoscopy can be performed. Authors describe this method as well as discuss the international literature, and review the cases of their own ten cases with this method. They emphasize the advantages of the new method in a certain subgroup of patients against the traditional sequential approach (preoperative ERCP than laparoscopic cholecystectomy) and also share their technical experiences. Finally, they underline the importance of the team work which supposes the cooperation of the gastroenterologist, surgeon and anesthesiologist in the indication, organization and implementation of the intervention.


Assuntos
Colangiopancreatografia Retrógrada Endoscópica/métodos , Colecistectomia Laparoscópica/métodos , Colecistolitíase/diagnóstico , Colecistolitíase/cirurgia , Coledocolitíase/diagnóstico , Coledocolitíase/cirurgia , Equipe de Assistência ao Paciente , Colecistolitíase/complicações , Coledocolitíase/complicações , Feminino , Humanos , Pessoa de Meia-Idade , Resultado do Tratamento
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