Hereditary diffuse gastric cancer.

摘要: Hereditary gastric cancers are thought to represent 1% of all malignancies. Epidemiology studies have identified a subset cancer patients who develop hereditary, diffuse-type at an early age. These been reported in as young age 14, with majority presenting before 40.[1] diffuse (HDGC) is defined members family (1) 2 first- or second-degree relatives cancer, one whom diagnosed the 50 years; (2) 3 more irrespective onset.[1] In 1993, Lauren and colleagues[2] published classification scheme for stratification into intestinal types. types disease differ histologically epidemiologically. The type has declining developing countries common elderly patients; environmental insults be important factor development. Conversely, younger incidence remained constant; heredity play key role Mutations which following genes most commonly predispose HDGC? RAS gene RET gene E-cadherin (CDH-1) gene C-MYC gene Mutations HDGC In 1998, Guilford colleagues[3] studied kindred New Zealand associated germline mutation E-cadherin gene. This gene isolated chromosome 16q22.1 codes transmembranous glycoprotein, E-cadherin. Multiple mutations since throughout CDH-1 gene, leading truncated, inactive production. protein crucial cellular adhesion help inhibit tumor invasion metastasis. 2. What mode inheritance mutations? Autosomal dominant high penetrance Mutations inherited autosomal fashion extremely rate penetrance. risk estimated 75% 83%.[1,4] All these malignancies type, propensity spread submucosal plane stomach. pattern typically does not cause mucosal abnormalities therefore easily missed on endoscopy. Thus, present advanced stage. In families HDGC, genetic testing advocated individuals hope identifying those harboring mutations. Once identified, can offered close surveillance prophylactic gastrectomy. Autosomal low penetrance Autosomal recessive penetrance 3. Close endoscopic effective method known True False Unfortunately, random yearly biopsies proven increasing survival. Typically, when return positive, found disease, very poor prognosis.[4] Therefore, gastrectomy only reliable preventive treatment mutations. Laparoscopic made possible by recent advances videoendoscopic surgery. To our knowledge, ours first case report laparoscopic total HDGC mutation. Case Report A 50-year-old woman history was screening mutation. There extensive patient's paternal side. Her grandmother died 64; her father 69; uncle 46; 4 aunts ages 25, 41, 49, 56; male cousin 57 – from cancer. patient had undergone upper endoscopy ultrasound examination part surveillance, were unremarkable. Due this lack measures, elected undergo gastrectomy. Surgical Procedure Videoclip: Laparoscopic gastrectomy. Click “Play” view video. Following induction general endotracheal anesthesia, 6 ports inserted, shown. abdomen revealed no evidence malignancy. greater curvature stomach freed omentum short gastrics ultrasonic dissector. Further dissection exposed left artery (highlighted) that divided its base vascular load linear stapler. Next, esophagus mobilized both vagus nerves (highlighted anterior posterior nerves). lesser pylorus their surrounding attachments proximal duodenum (division between “D” “S”). Next, performed (not shown) identify squamocolumnar junction. stitch placed intracorporeal corresponding location visualized endoscope. A stapler used divide esophagus, marking junction, ensuring removal tissue. prepared creation esophagojejunostomy placing securing anvil portion end-to-end anastomosis (EEA) distal esophagus. The specimen then bag removed through enlarged port site. Gross histologic confirmed complete squamous cells margin Brunner's glands margin. A 45-cm Roux-en-Y created brought retrocolic opposition ensure adequate reach tension. good position, end-to-side using EEA performed.