Presence Saint Joseph Hospital, Chicago, IL, USA.
Cancer Treatment Centers of America, Zion, IL, USA.
World J Surg Oncol. 2018 Jul 14;16(1):143. doi: 10.1186/s12957-018-1415-5.
Gastric cancer is the fifth most prevalent and the third most lethal cancer worldwide, causing approximately 720,000 deaths annually. Although most cases of gastric cancers are sporadic, one of its inherited forms, hereditary diffuse gastric cancer (HDGC), constitutes about 1-3% of cases. Interestingly, females in families with HDGC are also predisposed to developing lobular breast cancer (LBC). Recent analyses have identified loss-of-function germline mutations in cadherein-1 (CDH1) as a culprit in HDGC and LBC. This discovery fueled several sequencing analyses and case series reports analyzing the pattern of inheritance of CDH1 and its propensity to induce HDGC. In 2015, a multinational and multidisciplinary task force updated the guidelines and criteria for screening, diagnosing, and managing HDGC.
Here, we present a case series of three siblings with family history of HDGC who tested positive for the CDH1 mutation and describe their surgical treatment course, post-operative management, and follow-up as they pertain to the updated guidelines.
Despite recent updates in guidelines in the diagnosis and management of HDGC, the disease remains challenging to address with patients given the high level of uncertainty and the comorbidities associated with prophylactic intervention. We strongly recommend that an interdisciplinary team inclusive of clinical and surgical oncologists, along with geneticists, social work, and psychological support, should follow the patients in a longitudinal and comprehensive manner in order to achieve full recovery and return to normalcy, as with our patients.
胃癌是全球第五大常见癌症，也是第三大癌症致死病因，每年导致约 72 万人死亡。虽然大多数胃癌是散发性的，但它的一种遗传性形式——遗传性弥漫性胃癌（HDGC），约占所有病例的 1-3%。有趣的是，HDGC 家族中的女性也容易罹患乳腺小叶癌（LBC）。最近的分析确定了黏着蛋白-1（CDH1）的种系失活突变是 HDGC 和 LBC 的罪魁祸首。这一发现推动了几项分析 CDH1 遗传模式及其诱导 HDGC 倾向的测序分析和病例系列报告。2015 年，一个多国多学科工作组更新了筛查、诊断和管理 HDGC 的指南和标准。
在这里，我们报告了一个有 HDGC 家族史的三兄妹的病例系列，他们的 CDH1 突变检测呈阳性，并描述了他们的手术治疗过程、术后管理和随访，这些都与最新指南有关。
尽管最近在 HDGC 的诊断和管理指南中有所更新，但考虑到高度的不确定性和预防性干预相关的合并症，该疾病仍然难以处理。我们强烈建议由临床和外科肿瘤学家、遗传学家、社会工作者和心理支持组成的跨学科团队以纵向和全面的方式对患者进行跟踪，以实现全面康复和恢复正常生活，就像我们的患者一样。
