文档介绍：遗传性非息肉病性大肠癌2家系报告及文献复习
【摘要】目的探讨遗传性非息肉病性大肠癌()家系的临床特征。方法家系共12例患者进行病例回顾及家系调查。结果患者,男3例,女9例,年龄31~70岁,中位发病年龄为41岁,其中多原发癌患者4例,占33%,肠外肿瘤以子宫内膜癌多见。结论多代垂直传递特征突出,多原发癌多见,患者及家系成员进行严密监测随访,以便达到早期诊断、早期治疗、改善预后的目的。
【关键词】遗传性非息肉病性大肠癌家系分析多原发癌
Abstract: Objective To investigate the clinical features of hereditary non-polyposis colorectal cancer (). Methods 12 diagnosed patients of 2 pedigrees were collected and followed up. Results The 12 patients, 3 males and 9 females, were confirmed to be cases of at the mean age of 41 (from 31 to 70). In the present series, there were 4 patients with multiple primary cancers, accounting for 33%; and endometrial cancer was frequently seen among the extracolonic malignancies. Conclusions is characterized by vertical transmission. Multiple primary cancers mon in patients. Special attention should be paid to patients and their relatives in order to make early diagnosis and treatment.
Key words: non-polyposis colorectal cancer, hereditary; pedigree; multiply primary cancer
遗传性非息肉病性大肠癌(hereditary non-polyposis colorectal cancer,),又称Lynch综合征,属常染色体显性遗传综合征,其遗传特点是从亲代到子代的“垂直遗传”,并且符合单基因遗传性疾病的规律,%~2%。家系临床较少见,文献报道也不多,家系,现结合文献对其病因、临床特征、诊断、治疗及预后分析如下。
1 临床资料
例1 先证者,女性。1968年(31岁)因子宫体癌行全子宫切除+左侧卵巢切除术,术后病理诊断为子宫内膜癌。术后未行放、化疗,定期复查未见肿瘤复发或转移。1991年发现左乳腺肿块,诊断为乳腺癌,行左乳腺癌改良根治术,术后病理诊断为左乳腺单纯癌。术后行CMF方案化疗6周期及放疗。1994年因粪便性状改变行纤维结肠镜检查,诊断为横结肠肿瘤而行左半结肠切除术,术后病理诊断为结肠腺癌。术后