Raedle J, Schaffner M, Esser N, Sahm S, Trojan J, Kriener S, Brieger A, Nier H, Bockhorn H, Berg P L, Frick B, Schäfer D, Zeuzem S
Medizinische Klinik II, Klinikum der J. W. Goethe-Universität, Frankfurt/Main, Germany.
Z Gastroenterol. 2002 Aug;40(8):561-8. doi: 10.1055/s-2002-33419.
Estimates of the colon cancer burden associated with hereditary nonpolyposis colorectal cancer (HNPCC) vary from less than 1 % to more than 5 %. Amsterdam criteria fulfilled within a kindred (classic Amsterdam and Amsterdam II criteria) are widely used to identify patients prone to HNPCC. The present study was initiated to assess the frequency of the Amsterdam criteria within a regional German cohort of 207 patients with a history of colorectal cancer (CRC). Data on individual and family cancer histories were available in 154 patients (73 women, 81 men; mean age at diagnosis 62.4 +/- 13.3 years). A total of 843 first degree relatives have been identified within the kindreds of whom 121 had verified cancers. In 28 of 154 families (18 %), at least one first degree relative of the index patient had CRC. With respect to a typical family history, five kindreds (3.2 %) were likely to suffer from HNPCC on a clinical basis (4 kindreds met the classic Amsterdam criteria and one kindred the Amsterdam II criteria). Testing for microsatellite instability could additionally be performed in 4 of 5 patients who met the Amsterdam criteria and revealed DNA instability in 3 cases. Moreover, a missense mutation of MSH2 (Gly965Asp) was detected in one patient with microsatellite instability. Based on the classic Amsterdam and Amsterdam II criteria approximately 3 % of a regional German cohort of patients with CRC are likely to suffer from HNPCC. However, the final diagnosis of HNPCC can only be established by detection of pathogenic germline mutations within the DNA mismatch repair genes.
与遗传性非息肉病性结直肠癌（HNPCC）相关的结肠癌负担估计值在不到1%至超过5%之间。家系中符合阿姆斯特丹标准（经典阿姆斯特丹标准和阿姆斯特丹II标准）被广泛用于识别易患HNPCC的患者。本研究旨在评估德国一个地区性队列中207例有结直肠癌（CRC）病史患者的阿姆斯特丹标准符合率。154例患者（73名女性，81名男性；诊断时平均年龄62.4±13.3岁）有个人和家族癌症病史数据。在家系中总共识别出843名一级亲属，其中121人已确诊患有癌症。在154个家庭中的28个（18%），索引患者的至少一名一级亲属患有CRC。就典型家族病史而言，5个家系（3.2%）在临床基础上可能患有HNPCC（4个家系符合经典阿姆斯特丹标准，1个家系符合阿姆斯特丹II标准）。在符合阿姆斯特丹标准的5例患者中的4例还进行了微卫星不稳定性检测，其中3例显示DNA不稳定性。此外，在1例微卫星不稳定性患者中检测到MSH2的错义突变（Gly965Asp）。基于经典阿姆斯特丹标准和阿姆斯特丹II标准，德国一个地区性CRC患者队列中约3%可能患有HNPCC。然而，HNPCC的最终诊断只能通过检测DNA错配修复基因中的致病种系突变来确定。
