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目的了解结直肠癌患者的遗传易感性与结直肠癌人群中遗传性非息肉病性结直肠癌(HNPCC)的流行状况。方法结直肠癌患者分为两部分:第一部分为作者连续调查的结直肠癌患者,第二部分来源于近年来公开发表的有关中国人HNPCC发病率的文献。采用阿姆斯特丹标准Ⅰ、Ⅱ和日本标准等诊断HNPCC。结果17.2%的患者具有恶性肿瘤遗传易感性,5.2%的患者具有结直肠癌遗传易感性;多原发恶性肿瘤、多原发结直肠癌等分别占13.1%、10.1%;多原发恶性肿瘤(P=0.001)、多原发结直肠癌(P=0.000)等的发生均与恶性肿瘤家族史相关;低龄结直肠癌(≤50岁)患者占21.4%,其发生与恶性肿瘤家族史(P=0.000)、结直肠癌家族史(P=0.000)等均呈密切相关;符合阿姆斯特丹标准Ⅰ、Ⅱ和日本标准等HNPCC的检出率分别为1.24%、2.15%和2.93%,南、北地区间的差异没有统计学意义(P>0.05)。结论恶性肿瘤家族史、多原发恶性肿瘤和低龄结直肠癌(≤50岁)是3种恶性肿瘤及结直肠癌遗传易感性的临床标志。多原发恶性肿瘤、低龄结直肠癌等与恶性肿瘤家族史相关。我国HNPCC的流行率与西方国家相当。
Objective To understand the genetic predisposition of patients with colorectal cancer and the prevalence of hereditary nonpolyposis colorectal cancer (HNPCC) in colorectal cancer. Methods Colorectal cancer patients were divided into two parts: the first part is the author’s continuous survey of colorectal cancer patients, the second part from the published in recent years, the incidence of Chinese HNPCC literature. HNPCC was diagnosed using Amsterdam standards I, II and Japanese standards. Results 17.2% patients had genetic susceptibility to malignant tumors, 5.2% had genetic susceptibility to colorectal cancer, 13.1% and 10.1% had multiple primary malignancies and multiple primary colorectal cancers respectively, and multiple primary malignant tumors (P = 0.001), multiple primary colorectal cancer (P = 0.000) and so on were all related to the family history of malignant tumors. The incidence of colorectal cancer in younger patients (≤50 years old) was 21.4%, which was associated with the family history of malignant tumors (P = 0.000), family history of colorectal cancer (P = 0.000), etc. The detection rates of HNPCC in accordance with the standards of I, II and Japan such as Amsterdam were 1.24%, 2.15% and 2.93%, respectively, There was no significant difference between regions (P> 0.05). Conclusion The family history of malignant tumors, multiple primary malignant tumors and younger colorectal cancer (≤50 years old) are the clinical markers of genetic susceptibility to three malignant tumors and colorectal cancer. Multiple primary malignancies, younger colorectal cancer and family history of malignant tumors. The prevalence of HNPCC in China is comparable to that in western countries.