Clinical Presentation & Protocol
Patient Usually Complains Of
Patient presents for surveillance/management of Hereditary Diffuse Gastric Cancer (HDGC) secondary to confirmed germline CDH1 mutation. Family history significant for [Number] first/second-degree relatives with diffuse gastric cancer or lobular breast cancer. Patient is currently [asymptomatic/reporting symptoms of dyspepsia, early satiety, or weight loss]. Genetic counseling completed; patient understands high lifetime risk of gastric malignancy and prophylactic surgical options.
Clinical Examination Findings
General: Patient appears [well-nourished/cachectic]. Abdomen: Soft, non-distended, non-tender to palpation. No palpable masses or organomegaly. Bowel sounds present and normoactive. Skin: No stigmata of neurofibromatosis or other syndromic features. Performance status: ECOG [0-1].
Treatment Protocol
Prophylactic total gastrectomy (PTG) recommended as gold standard for CDH1 mutation carriers. If surgery deferred, high-frequency endoscopic surveillance (every 6-12 months) via high-definition white-light endoscopy with extensive mapping biopsies (Cambridge protocol) is mandatory. Referral to surgical oncology, nutrition, and psychological support services initiated.