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[两例遗传性非息肉病性结肠癌(HNPCC)家族的鉴定及阿姆斯特丹标准。系谱树和随访的相关性]

[Identification of 2 families with hereditary nonpolyposis colonic cancer (HNPCC) and the Amsterdam criteria. Relevance of the genealogic tree and follow-up].

作者信息

Balmaña J, Brunet J, Capellà G, González D, Palicio M, Sancho F J, Pericay C, López López J J, Marcuello E

机构信息

Servei d'Oncologia Mèdica, Hospital de Sant Pau, Barcelona.

出版信息

Med Clin (Barc). 2000 Jan 22;114(2):56-9. doi: 10.1016/s0025-7753(00)71189-4.

Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC) diagnosis is based either on the so-called "Amsterdam 1 criteria" or "Amsterdam 2 criteria", which includes extracolonic neoplasms associated with Lynch II syndrome. Many families are suspected of having a hereditary predisposition to cancer and may benefit from close surveillance. We describe a family (family 1) with suspected HNPCC at the beginning who fulfilled the Amsterdam 1 criteria over the course of its follow-up. We also describe an Amsterdam 2 family (family 2) with a very young affected individual. Both of them received genetic counseling and screening recommendations. A total colonoscopy was done to an asymptomatic member of family 1 and he was diagnosed with an early-stage colon cancer. He underwent subtotal colectomy because of the high risk of metachronous lesion. Screening recommendations must be the same in Amsterdam 2 families as in Amsterdam 1. Both families show the importance of considering the family history when hereditary criteria are suspected.

摘要

遗传性非息肉病性结直肠癌(HNPCC)的诊断基于所谓的“阿姆斯特丹1标准”或“阿姆斯特丹2标准”,其中包括与林奇II综合征相关的结肠外肿瘤。许多家族被怀疑具有遗传性癌症易感性,可能受益于密切监测。我们描述了一个最初疑似患有HNPCC的家族(家族1),该家族在随访过程中符合阿姆斯特丹1标准。我们还描述了一个有非常年轻患病个体的阿姆斯特丹2家族(家族2)。两个家族都接受了遗传咨询和筛查建议。对家族1的一名无症状成员进行了全结肠镜检查,他被诊断为早期结肠癌。由于异时性病变风险高,他接受了次全结肠切除术。阿姆斯特丹2家族的筛查建议必须与阿姆斯特丹1家族相同。两个家族都显示出在怀疑遗传性标准时考虑家族史的重要性。

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