Aarnio M, Mecklin J P, Aaltonen L A, Nyström-Lahti M, Järvinen H J
Second Department of Surgery, Helsinki University Central Hospital, Finland.
Int J Cancer. 1995 Dec 20;64(6):430-3. doi: 10.1002/ijc.2910640613.
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 bowel 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.
遗传性非息肉病性结直肠癌（HNPCC）的确诊表明，受影响家庭成员的后代理论上终生患癌风险为50%，而真正的基因携带者终生患癌风险为100%。然而，除了结直肠癌（CRC）外，许多其他癌症类型和部位也会受累，这就需要评估其他各种癌症类型的风险程度。对40个HNPCC家庭进行的详细系谱分析确定了414名癌症患者。基于293名有充分肿瘤临床和组织学记录的推定基因携带者，对各种癌症的累积风险进行了Kaplan-Meier生存表分析。结直肠癌（78%）和子宫内膜癌（仅女性为43%）的累积风险最高，其次是胃癌、胆管癌、泌尿系统癌和卵巢癌（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%。结直肠癌治疗后异时性癌症风险达到90%，子宫内膜癌治疗后为75%；第二种肿瘤最常见的是新发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，但并非所有基因携带者都会患结直肠癌。这使得对于检测出基因携带者是否进行预防性结肠切除术的决策变得困难。在涉及的许多其他癌症类型中，至少子宫内膜癌足够常见，需要制定特定的监测方案。
