Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers.
Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers.
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DOI：
10.1136/jmedgenet-2015-103094
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发表时间：
2015-06
影响因子：
4
通讯作者：
Fitzgerald RC
中科院分区：
文献类型：
--
作者：
van der Post RS;Vogelaar IP;Carneiro F;Guilford P;Huntsman D;Hoogerbrugge N;Caldas C;Schreiber KE;Hardwick RH;Ausems MG;Bardram L;Benusiglio PR;Bisseling TM;Blair V;Bleiker E;Boussioutas A;Cats A;Coit D;DeGregorio L;Figueiredo J;Ford JM;Heijkoop E;Hermens R;Humar B;Kaurah P;Keller G;Lai J;Ligtenberg MJ;O'Donovan M;Oliveira C;Pinheiro H;Ragunath K;Rasenberg E;Richardson S;Roviello F;Schackert H;Seruca R;Taylor A;Ter Huurne A;Tischkowitz M;Joe ST;van Dijck B;van Grieken NC;van Hillegersberg R;van Sandick JW;Vehof R;van Krieken JH;Fitzgerald RC
生殖系CDH 1突变赋予发展弥漫性胃癌（DGC）和小叶乳腺癌（LBC）的高终生风险。组织了一个多学科研讨会，讨论基因检测、手术、监测策略、病理报告和患者对多个方面的看法，包括胃切除术后的饮食。更新后的指南包括修订后的CDH 1检测标准（考虑到一级和二级亲属）：（1）任何年龄有两名或更多胃癌患者的家庭，其中一名确诊为DGC;（2）40岁之前患有DGC的个人和（3）同时诊断为DGC和LBC的家庭（50岁之前诊断一次）。此外，CDH 1测试可以考虑在50岁之前的双侧或家族性LBC患者，DGC和唇腭裂患者，以及印戒细胞癌的前驱病变患者。鉴于与侵袭性疾病相关的高死亡率，建议对致病性CDH 1突变的个体在专业中心进行预防性全胃切除术。建议从30岁开始对CDH 1突变的女性进行乳腺癌监测，每年进行一次乳腺MRI。对于那些目前选择不进行胃切除术的患者，那些具有不确定意义的CDH 1变异的患者以及那些符合遗传性DGC标准而没有生殖系CDH 1突变的患者，建议在有经验的中心进行标准化内镜监测。专家组织病理学确认（早期）印戒细胞癌的建议。胃切除术和乳房切除术的影响不应被低估;这些可能会对心理，生理和代谢水平产生严重后果。营养问题应仔细监测。
Germline CDH1 mutations confer a high lifetime risk of developing diffuse gastric (DGC) and lobular breast cancer (LBC). A multidisciplinary workshop was organised to discuss genetic testing, surgery, surveillance strategies, pathology reporting and the patient's perspective on multiple aspects, including diet post gastrectomy. The updated guidelines include revised CDH1 testing criteria (taking into account first-degree and second-degree relatives): (1) families with two or more patients with gastric cancer at any age, one confirmed DGC; (2) individuals with DGC before the age of 40 and (3) families with diagnoses of both DGC and LBC (one diagnosis before the age of 50). Additionally, CDH1 testing could be considered in patients with bilateral or familial LBC before the age of 50, patients with DGC and cleft lip/palate, and those with precursor lesions for signet ring cell carcinoma. Given the high mortality associated with invasive disease, prophylactic total gastrectomy at a centre of expertise is advised for individuals with pathogenic CDH1 mutations. Breast cancer surveillance with annual breast MRI starting at age 30 for women with a CDH1 mutation is recommended. Standardised endoscopic surveillance in experienced centres is recommended for those opting not to have gastrectomy at the current time, those with CDH1 variants of uncertain significance and those that fulfil hereditary DGC criteria without germline CDH1 mutations. Expert histopathological confirmation of (early) signet ring cell carcinoma is recommended. The impact of gastrectomy and mastectomy should not be underestimated; these can have severe consequences on a psychological, physiological and metabolic level. Nutritional problems should be carefully monitored.
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影响因子：
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作者：
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