Perea J, Justo I, Alvaro E, Lomas M, Tasende J Díaz, Marín J C, Franco A, Colina F, Rodríguez Y, Martínez J, Robles L, Urioste M, Hidalgo M
Department of General Surgery B, "12 de Octubre" University Hospital, Madrid, Spain.
Rev Esp Enferm Dig. 2009 Aug;101(8):536-40. doi: 10.4321/s1130-01082009000800003.
The importance of colorectal cancer (CRC) is increasing. A proportion show a hereditary component, as in Lynch syndrome and Familial Adenomatous Polyposis, and a recently defined entity as well, namely, Familial Colorectal Cancer type X. The high probability to develop CRC in these groups may, at the time of recognition, change surgical management, including its timing or even the surgical technique. In some cases prophylactic surgery can play an important role. The possibility of using tools that allow recognition of the aforementioned syndromes, including microsatellite instability, immunohistochemistry for DNA mismatch repair system proteins, and especially their mutations, is on the basis of therapeutic strategies that differ from those employed in sporadic CRC cases.
结直肠癌(CRC)的重要性日益增加。一部分病例显示出遗传因素,如林奇综合征和家族性腺瘤性息肉病,以及最近定义的一种实体,即X型家族性结直肠癌。这些群体中发生CRC的高概率在确诊时可能会改变手术管理,包括手术时机甚至手术技术。在某些情况下,预防性手术可发挥重要作用。使用能够识别上述综合征的工具的可能性,包括微卫星不稳定性、DNA错配修复系统蛋白的免疫组织化学检测,尤其是其突变检测,是基于与散发性CRC病例不同的治疗策略。