Benesch Matthew G K, Bursey Stuart R, O'Connell Andrew C, Ryan Morag G, Howard Carrie L, Stockley Cecily C, Mathieson Alexander
Discipline of Surgery, Faculty of Medicine, Memorial University of Newfoundland, St. John's, NL A1B 3V6, Canada.
Faculty of Medicine, Memorial University of Newfoundland, St. John's, NL A1B 3V6, Canada.
Cancers (Basel). 2021 May 26;13(11):2622. doi: 10.3390/cancers13112622.
Hereditary diffuse gastric cancer (HDGC) is a rare signet-ring cell adenocarcinoma (SRCC) linked to (E-cadherin) inactivating germline mutations, and increasingly other gene mutations. Female mutation carriers have additional risk of lobular breast cancer. Risk management includes prophylactic total gastrectomy (PTG). The utility of endoscopic surveillance is unclear, as early disease lacks macroscopic lesions. The current systematic biopsy protocols have unknown efficacy, and other secondary cancer risks are postulated. We conducted a retrospective study of consecutive asymptomatic HDGC patients undergoing PTG, detailing endoscopic, pathologic, and outcome results. A systematic review compared endoscopic biopsy foci detection via random sampling versus Cambridge Protocol against PTG findings. A population-level secondary-cancer-risk postulation among sporadic gastric SRCC patients was completed using the Surveillance, Epidemiology, and End Results database. Of 97 patients, 67 underwent PTG, with 25% having foci detection on random endoscopic biopsy despite 75% having foci on final pathology. There was no improvement in the endoscopic detection rate by Cambridge Protocol. The postulated hazard ratio among sporadic gastric SRCC patients for a secondary colorectal SRCC was three-fold higher, relative to conventional adenocarcinoma patients. Overall, HDGC patients should not rely on endoscopic surveillance to delay PTG, and may have secondary SRCC risks. A definitive determination of actual risk requires collaborative patient outcome data banking.
遗传性弥漫性胃癌（HDGC）是一种罕见的印戒细胞腺癌（SRCC），与E-钙黏蛋白（E-cadherin）种系失活突变以及越来越多的其他基因突变有关。女性突变携带者患小叶性乳腺癌的风险更高。风险管理包括预防性全胃切除术（PTG）。由于早期疾病缺乏宏观病变，内镜监测的效用尚不清楚。目前的系统活检方案疗效未知，且推测存在其他继发性癌症风险。我们对连续接受PTG的无症状HDGC患者进行了一项回顾性研究，详细记录了内镜、病理和结果。一项系统评价比较了通过随机抽样与剑桥方案进行内镜活检病灶检测与PTG结果。利用监测、流行病学和最终结果数据库完成了散发性胃SRCC患者群体水平的继发性癌症风险推测。在97例患者中，67例接受了PTG，尽管最终病理检查发现75%的患者有病灶，但随机内镜活检发现病灶的患者占25%。剑桥方案在内镜检测率方面没有改善。散发性胃SRCC患者发生继发性结直肠SRCC的推测风险比相对于传统腺癌患者高出三倍。总体而言，HDGC患者不应依赖内镜监测来延迟PTG，并且可能存在继发性SRCC风险。对实际风险的明确确定需要合作建立患者结果数据库。
