Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Pará, Belém 66075-110, Brazil.
Núcleo de Pesquisas em Oncologia, Universidade Federal do Pará, Belém 66073-000, Brazil.
World J Gastroenterol. 2020 Apr 7;26(13):1382-1393. doi: 10.3748/wjg.v26.i13.1382.
Gastric cancer remains one of the most lethal cancers. The incidence and mortality rates are quite similar. The main reason for the high mortality is diagnosis at advanced stages of disease, when treatment options are poor. One of the supposed strategies to overcome late-stage diagnosis is identifying people at high risk with the aim of establishing rigorous clinical control, including routine endoscopy and biopsies. Hereditary gastric cancer (HGC) syndromes, though representing a sizeable group to monitor for prevention or, at least, for early diagnosis, are apparently extremely rare. The low rate of HGC diagnosis might be related to the low rates of suspicion, insufficient familiarity about clinical diagnosis criteria, and the supposed conditional necessity of a molecular diagnosis. In this review, we will discuss simple measures to increase HGC diagnosis by applying three rules that might provide an opportunity for precision care to benefit the families affected by this disease.
胃癌仍然是最致命的癌症之一。其发病率和死亡率相当接近。导致高死亡率的主要原因是疾病处于晚期才被诊断出来,此时治疗选择有限。克服晚期诊断的一种假设策略是识别高危人群,目的是建立严格的临床控制,包括常规内窥镜检查和活检。遗传性胃癌(HGC)综合征虽然是一个需要监测的相当大的群体,以预防或至少早期诊断,但显然极为罕见。HGC 诊断率低可能与低怀疑率、对临床诊断标准的认识不足以及分子诊断的假设必要性有关。在这篇综述中,我们将讨论通过应用三条规则来提高 HGC 诊断率的简单措施,这可能为精准医疗提供机会,使受这种疾病影响的家庭受益。