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遗传性非息肉病性大肠癌家系及可疑家系的临床诊断分析

An Analysis on Diagnosis of Hereditary Nonpolyposis Colorectal Cancer or Suspected Hereditary Nonpolyposis Colorectal Cancer
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摘要 [目的]提高对遗传性非息肉病性大肠癌(HNPCC)临床诊断的认识。[方法]对有2例以上大肠癌 ,或1例大肠癌并1例以上HNPCC相关肿瘤以及发病年龄小于40岁患者的家系进行家系调查和诊断分析。[结果]70个家系中有8个家系符合HNPCC诊断标准 ,8个家系共有24例大肠癌病人 ,平均年龄44岁。共有大肠癌灶35个 ,20个分布于脾曲近端的结肠。6例为多原发大肠癌。62个家系符合可疑HNPCC诊断标准 ,其中2个家系符合可疑HNPCC诊断标准Ⅰ ,60个家系符合可疑HNPCC诊断标准Ⅱ。62个家系共有65例大肠癌病人 ,平均年龄30.5岁。共有大肠癌灶68个 ,49个癌灶分布于脾曲远端的结肠或直肠。2例为多原发大肠癌。[结论]熟悉HNPCC诊断标准和可疑HNPCC诊断标准对临床诊断至关重要。有必要对可疑HNPCC诊断标准Ⅱ进行修改。 To improve the recognition of the hereditary nonpolyposis colorectal cancer(HNPCC)in its clinical diagnosis.A survey of the families was made which with more than 2 cases of colorectal cancer or 1 case of colorectal cancer and 1 extracolonic tumor related to HNPCC and less than 40 years of age.The diagnostic analysis was made.Among the 70 families,8 families fulfilled Amsterdam HNPCC criteria.Among of which 24 persons had colorectal cancer.The average age of the cancer onset was 44 years.The total of foci were 35,20 of them were located in the proximal colon to the splenic flexure.Six patients had multifocal colorectal cancer.Another 62 families fulfilled suspected HNPCC criteria.Among of them,2 families fulfilled the suspected HNPCC criteria Ⅰ.The others fulfilled the suspected HNPCC criteria Ⅱ.The 62 families had 65 colorectal cancer cases.The average age of the cancer onset was 30.5 years.In a total of 68 fuci,49 were located in the distal colon to the splenic flexure or rectum.Two patients had multifocal colorectal cancer.[Conclusions]It played an important role to know HNPCC and suspected HNPCC criteria in making clinical diagnosis of them.It was necessary to revise the suspected HNPCC criteria Ⅱ.
机构地区 北京空军总医院
出处 《肿瘤学杂志》 CAS 2002年第1期24-26,共3页 Journal of Chinese Oncology
关键词 大肠肿瘤 家系 可疑家系 遗传性非息肉病性大肠癌 临床诊断 HNPCC colorectal neoplasms hereditary nonpolyposis family
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参考文献3

  • 1[1]Lynch HT, Smyrk T. Hereditary nonpolyposis colorectal cancer (Lynch syndrome) [J] .Cancer, 1996,78:1149 - 1167.
  • 2[2]Vasen HFA, Watson P, Mecklin JP, et al. New clinical criteria for hereditary nonpolyposis colorectal cancer(HNPCC, Lynch Syndrome) proposed by the international collaborative group on HNPCC [ J ]. Gastroenterology, 1999, 116: 1453 - 1456.
  • 3[3]Park JG, Vasen HFA, Park KJ, et al. Suspected hereditary nonpolyposis colorectal cancer: international collaborative group on hereditary nonpolyposis colorectal cancer (ICG-HNPCC) criteria and results of genetic diagnosis [ J ]. Dis Colon Rectum, 1999,42(6) :710- 716.

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