Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome
Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome
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DOI：
10.1002/ijc.2910640613
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发表时间：
1995-12-20
影响因子：
6.4
通讯作者：
Jarvinen, HJ
中科院分区：
文献类型：
--
作者：
Aarnio, M;Mecklin, JP;Jarvinen, HJ
遗传性非息肉病性结直肠癌（HNPCC）的鉴定表明，受影响家庭成员后代的理论终生风险为50%，而真正基因携带者的理论终生风险为100%。然而，除了结直肠癌（CRC），许多其他癌症类型和部位也涉及，这就有理由评估各种其他癌症类型的风险程度。对40个HNPCC家族进行了详细的系谱分析，确定了414例癌症患者。对293名假定的基因携带者进行Kaplan-Meier生命表分析，分析各种癌症的累积风险，这些人有足够的肿瘤临床和组织学记录。累积风险最高的是结直肠癌（78%）和子宫内膜癌（43%，仅限女性），其次是胃癌、胆道癌、泌尿道癌和卵巢癌（19% -9%）。对于其他可能与hnpcc相关的癌症类型，如小肠癌和脑肿瘤，终生风险仅为1%。CRC治疗后发生任何异时性癌症的风险达到90%，子宫内膜癌治疗后达到75%；第二个肿瘤通常是新的结直肠癌或子宫内膜癌。结直肠癌仍然是HNPCC综合征中最重要的癌症类型，但并非在所有基因携带者中都发生。这使得对检测到的基因携带者进行预防性结肠切除术的决定变得困难。在涉及的许多其他类型的癌症中，至少子宫内膜癌是足够常见的，需要一个特定的监测项目。(C) 1995 Wiley-Liss, Inc。
Identification of hereditary non-polyposis colorectal cancer (HNPCC) indicates theoretical life-time risks of 50% for the descendants of an affected family member and of 100% for the true gene carriers. However, besides colorectal cancer (CRC), many other cancer types and sites are also involved, which gives reason to evaluate the magnitude of risk for various other cancer types. A detailed pedigree analysis of 40 families with HNPCC identified 414 patients affected with cancer. A Kaplan-Meier life-table analysis for the cumulative risk of various cancers was performed on the basis of the 293 putative gene carriers who had adequate clinical and histological documentation of their tumors. Cumulative risks were highest for colorectal (78%) and endometrial cancers (43%, women only), followed by gastric, biliary tract, urinary tract and ovarian cancers (19-9%). For the other probably HNPCC-related cancer types, such as small bower carcinoma and brain tumors, the life-time risk was only 1%. The risk of any metachronous cancer reached 90% after treatment of CRC and 75% after endometrial cancer; the second tumor was most often a new CRC or endometrial cancer. CRC remains the most important cancer type in the HNPCC syndrome but does not develop in all gene carriers. This makes the decision of possible prophylactic colectomy for test-detected gene carriers difficult. Of the many other cancer types involved, at least endometrial cancer is common enough to necessitate a specific surveillance program. (C) 1995 Wiley-Liss, Inc.