Diffüz İnfiltratif Mide Karsinomu Olgularında Cdh1 Gen Mutasyonlarının Araştırılması

Abstract

Gastric cancer is the forth most common carcer and the second leading cause of death worldwide. Most of gastric cancer cases are sporadic; 10 – 15% are related to familial gastric cancer. “Hereditary Diffuse Gastric Cancer” is a syndrome with autosomal dominant inheritence and responsible for 1% of all gastric cancer. It occurs as a result of CDH1 gene mutation. The aim of this study is to evaluate the patients operated on for “Hereditary Diffuse Gastric Cancer” at Hacettepe University School of Medicine, Department of General Surgery between 01.01.1998 – 01.09.2016 and to screen for gene mutations. Sixty patients meeting the diagnostic criteria were included in the study. Demographic information, clinicopathologic features and postoperative follow up data were evaluated. DNA isolation was performed on the pathology specimen of six patients, CDH1 gene was amplified and sequence analysis was performed. The average age of patients was 45.3. Only 5 patient had early gastric cancer at the time of operation. Median survival was 20.1 months and five year survival rate was 23%. CDH1 gene mutations were found in five patiens; four of which were silent mutations and one was non-sense mutation. Exon 1 could not be amplified in two patients. This finding was interpreted as a possible deletion covering the relevant site, which needs verifying by MLPA.