Park Jae-Gahb, Vasen Hans F A, Park Young Jin, Park Kyu Joo, Peltomaki Paivi, de Leon Maurizio Ponzo, Rodriguez-Bigas Miguel A, Lubinski Jan, Beck Nicholas E, Bisgaard Marie-Luise, Miyaki Michiko, Wijnen Juul T, Baba Shozo, Lindblom Annika, Madlensky Lisa, Lynch Henry T
Laboratory of Cell Biology, Cancer Research Institute, Seoul National University College of Medicine, Korea.
Int J Colorectal Dis. 2002 Mar;17(2):109-14. doi: 10.1007/s003840100348.
The Korean Hereditary Tumor Registry has proposed criteria for suspected hereditary nonpolyposis colorectal cancer (S-HNPCC criteria I and II) and confirmed their validity in an international collaborative study. The S-HNPCC criteria included families that did not fulfill the Amsterdam criteria, but in whom HNPCC was nevertheless strongly suspected. The S-HNPCC criteria was also revised accordingly since some S-HNPCC families now fullfil the revised Amsterdam criteria. The original Amsterdam criteria have recently been revised, including some extracolonic cancers. This study compared the mutation detection rates between the revised and previous Amsterdam and S-HNPCC criteria.
Data on the mutational status of 393 HNPCC suspected families were collected from ten different institutes. Two hundred families were categorized into old S-HNPCC criteria (142 into criteria I and 58 into criteria II) and 193 families into Amsterdam criteria I.
Of the 142 old S-HNPCC criteria I families 24 fulfilled the Amsterdam criteria II as the data were reclassified according to the revised criteria, increasing the proportion of the families fulfilling the Amsterdam criteria by 12.4%. The mutation detection rate of the revised criteria was very little changed compared to the old criteria; 26% and 27% in the S-HNPCC criteria, and 50% and 52% in the Amsterdam criteria.
The mutation detection rate is hardly affected by the revision of the Amsterdam criteria although the population of patients fulfilling the criteria is increased. The value of revised S-HNPCC criteria is equivalent to that of as the old S-HNPCC criteria in selecting of candidate patients for genetic testing.
韩国遗传性肿瘤登记处提出了疑似遗传性非息肉病性结直肠癌的标准（S-HNPCC标准I和II），并在一项国际合作研究中证实了其有效性。S-HNPCC标准纳入了不符合阿姆斯特丹标准但仍高度怀疑患有HNPCC的家族。由于一些S-HNPCC家族现在符合修订后的阿姆斯特丹标准，S-HNPCC标准也相应进行了修订。最初的阿姆斯特丹标准最近也进行了修订，包括一些结肠外癌症。本研究比较了修订后的和先前的阿姆斯特丹标准与S-HNPCC标准之间的突变检测率。
从十个不同机构收集了393个疑似HNPCC家族的突变状态数据。200个家族被归类为旧的S-HNPCC标准（142个符合标准I，58个符合标准II），193个家族被归类为阿姆斯特丹标准I。
在142个旧的S-HNPCC标准I家族中，有24个根据修订后的标准重新分类后符合阿姆斯特丹标准II，使符合阿姆斯特丹标准的家族比例增加了12.4%。与旧标准相比，修订后标准的突变检测率变化很小；S-HNPCC标准中分别为26%和27%，阿姆斯特丹标准中分别为50%和52%。
尽管符合标准患者的数量增加，但阿姆斯特丹标准的修订对突变检测率几乎没有影响。在选择基因检测的候选患者方面，修订后的S-HNPCC标准的价值与旧的S-HNPCC标准相当。
