National Cancer Institute, Surgical Oncology Program, National Institutes of Health, Bethesda, Maryland, USA.
National Cancer Institute, Genetics Branch, National Institutes of Health, Bethesda, Maryland, USA.
J Med Genet. 2023 Mar;60(3):241-246. doi: 10.1136/jmg-2022-108733. Epub 2022 Jul 11.
Prophylactic total gastrectomy (PTG) can eliminate gastric cancer risk and is recommended in carriers of a germline pathogenic variant. PTG has established risks and potential life-long morbidity. Decision-making regarding PTG is complex and not well-understood.
Individuals with germline pathogenic or likely pathogenic variants who underwent surveillance endoscopy and recommended for PTG were evaluated. Factors associated with decision to pursue PTG (PTG) or not (PTG) were queried. A decision-regret survey was administered to patients who elected PTG.
Decision-making was assessed in 120 patients. PTG patients (63%, 76/120) were younger than PTG (median 45 vs 58 years) and more often had a strong family history of gastric cancer (80.3% vs 34.1%). PTG patients reported decision-making based on family history more often and decided soon after diagnosis (8 vs 27 months) compared with PTG. Negative endoscopic surveillance results were more common among PTG patients. Age >60 years, male sex and longer time to decision were associated with deferring PTG. Strong family history, a family member who died of gastric cancer and carcinoma on endoscopic biopsies were associated with decision to pursue PTG. In the PTG group, 30 patients (43%) reported regret which was associated with occurrence of a postoperative complication and no carcinoma detected on final pathology.
The decision to undergo PTG is influenced by family cancer history and surveillance endoscopy results. Regret is associated with surgical complications and pathological absence of cancer. Individual cancer-risk assessment is necessary to improve pre-operative counselling and inform the decision-making process.
NCT03030404.
预防性全胃切除术 (PTG) 可以消除胃癌风险，建议携带种系致病性变异的患者进行。PTG 具有既定的风险和潜在的终身发病率。关于 PTG 的决策是复杂的，目前还没有很好的理解。
对接受种系致病性或可能致病性变异基因检测并接受内窥镜监测，且建议进行预防性全胃切除术的个体进行评估。分析了决定是否进行 PTG 的相关因素。对选择 PTG 的患者进行了决策后悔调查。
评估了 120 名患者的决策过程。选择 PTG 的患者（63%，76/120）比选择不进行 PTG 的患者（PTG，45 岁 vs 58 岁）年龄更小，且有更强的胃癌家族史（80.3% vs 34.1%）。与 PTG 相比，PTG 患者更多地根据家族史做出决策，并在诊断后不久（8 个月 vs 27 个月）决定进行手术。PTG 患者的内镜监测结果通常为阴性。年龄>60 岁、男性和决策时间较长与推迟 PTG 相关。强烈的家族史、有家庭成员死于胃癌以及内镜活检中的癌前病变与决定进行 PTG 相关。在 PTG 组中，有 30 名患者（43%）报告了后悔，这与术后并发症的发生和最终病理未发现癌症有关。
进行 PTG 的决定受到家族癌症史和内镜监测结果的影响。后悔与手术并发症和病理上未发现癌症有关。需要进行个体癌症风险评估，以改善术前咨询并为决策过程提供信息。
NCT03030404。
