遗传性非息肉病性结直肠癌家系内在特性量化描述方法学的探讨

Quantitative method to describe the inner characteristics of hereditary nonpolyposis colorectal cancer family

目的探讨描述遗传性非息肉病性结直肠癌（HNPCC）家系内在特性的量化方法学。方法将不同来源的符合Amsterdam标准（AC）Ⅰ或Ⅱ的HNPCC家系按照年龄和结直肠癌构成比分组，采用自定义的量化参数与家系内恶性肿瘤累及世代数、患者例数、家系类型等描述HNPCC临床表型。结果家系首发恶性肿瘤中位诊断年龄（FMA-DFMT）和家系首发结直肠癌（CRC）中位诊断年龄（FMA-DFCRC）均为非正态分布；在符合ACⅠ的HNPCC家系中，大部分家系的FMA-DFMT、FMA-DFCRC为35～50岁，分别占73．6％（39／53）、69．8％（37／53），中位数分别为44．0岁和43．5岁；家系首发恶性肿瘤中CRC构成比（FPCRC-FMT）、家系结直肠癌患者构成比（FP．CRCP）小于0．6的家系分别占13．2％（7／53）、7．5％（4／53）；FMA-DFMT、FMA—DFCRC与患者例数、累及世代数、家系类型、FPCRC-FMT、FP-CRCP等参数之间均无相关性（均P〉0．05）。结论与传统方法相比较，应用量化参数能更准确地描述HNPCC家系的临床表型特点。

Objective To establish a quantitative method to describe the inner characteristics of hereditary nonpolyposis colorectal cancer （HNPCC） family. Methods All members of 25 HNPCC families with assembly of malignant tumors therein [ with at least one patients with colorectal cancer （CRC） ] in China underwent questionnaire survey. Other 32 HNPCC families with complete clinical data were collected from the published Chinese and foreign literatures related to clinical phenotype of Chinese HNPCC family. Altogether 57 HNPCC families fulfilling the Amsterdam Criteria （AC） Ⅰ or Ⅱ underwent analysis of the inner characteristics cumulatively. The following parameters were analyzed： familial median age when diagnosed as with the first malignant tumor （FMA-DFMT） , familial median age when diagnosed as with the first CRC （FMA-DFCRC）, familial proportion of CRC in first malignant tumors （FPCRC-FMT）, familial proportion of CRC patients （FP-CRCP）, number of involved generations, number of cancer patients, and type of family. Results In the AC Ⅰ HNPCC families, the distribution patterns of beth FMA-DFMT and FMA-DFCRC were not normal distribution. Most of the FMA-DFMT and FMA-DFCRC were from 35 years to 50 years with the medians of 44.0 years and 43.5 years respectively. The FPCRC-FMT and FP-CRCP were less than 0. 6 in 13.2 % （7/53） and 7.5 % （4/53） of the families respectively. The FMA-DFMT and FMA-DFCRC were not correlated with FPCRC-FMT, FP-CRCP, number of involved generations and cancer patients, and type of family （ all P 〉 0.05）. Conclusion Compared to the traditional methods, the features of HNPCC families can be accurately described by a series of quantitative parameters.