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• W2912841252 abstract "Gastric adenocarcinoma is uncommon in young age group. However, when malignancy is diagnosed in young otherwise healthy patients, genetic etiologies should be investigated due to the ramifications on not only patient care but also familial screening. 31-year-old African American man presented with a forty-pound unintentional weight loss over the last two months. Two weeks prior to admission, he was evaluated at an outside hospital with abdominal imaging suggestive of cirrhosis with large volume ascites. He underwent a large volume paracentesis with fluid studies negative for infection. He presented to the emergency department with worsening ascites. On exam, vitals were stable; abdomen exam was consistent with ascites. Lab revealed elevated Total bilirubin 1.8, ALT 249, AST 185. Imaging showed intrahepatic biliary ductal dilatation with transition point at the left and right intrahepatic biliary confluence with gastric mural thickening and thickened omentum. Endoscopy revealed complete gastric outlet obstruction with replacement of gastric mucosa with tumor tissue and lack of distension. Histopathology showed mucinous adenocarcinoma with diffuse signet ring cells. Additional stains positive for mucicarmine, AE1AE3, and E-cadherin. He has three siblings including one woman who are also in their third decade of life. This case illustrates the significance of an uncommon diagnosis known as Hereditary Diffuse Gastric Cancer (HDGC) and increases awareness regarding the challenges in diagnosis and screening of family members in a clinical setting with evolving genetic studies. The CDH-1 gene encodes the tumor suppressor protein known as E-Cadherin, which was discovered to have an autosomal dominant penetrance in HDGC more than 15 years prior. The lifetime cumulative risk of gastric cancer in patients with the CDH-1 gene is 76% in men and 56% in women. Prophylactic gastrectomy is recommended in patients who are carriers of the mutation. Also, women with this mutation have a significantly higher incidence of lobular breast cancer similar to other genetic forms of breast cancer and should undergo early breast cancer screening with annual mammogram and breast MRI beginning at age 35. Colonoscopy recommended screening of colon cancer starting at the age of 40. Areas of future research include additional genes under investigation that may also predispose families to HDGC given that some families that were studied developed HDGC despite negative genetic testing for CDH1.Figure: Gastric cancer seen in EGD with gastric outlet obstruction.Figure: Gastric cancer seen in EGD with gastric outlet obstruction.Figure: High power view of omentum with numerous mucin producing signet ring cell type, diffuse, adenocarcinoma. The arrows indicate the more classic signet ring cell morphology." @default.
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• W2912841252 date "2017-10-01" @default.
• W2912841252 modified "2023-10-18" @default.
• W2912841252 title "Genetic Ramifications of Malignant Gastric Outlet Obstruction" @default.
• W2912841252 doi "https://doi.org/10.14309/00000434-201710001-02563" @default.
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