De Felice C, Gentile M, Barducci A, Bellosi A, Parrini S, Chitano G, Latini G
Neonatal Intensive Care Unit, Azienda Ospedaliera Universitaria Senese, Policlinico Le Scotte, Viale M. Bracci, 16-I-53100 Siena, Italy.
Gut. 2006 Oct;55(10):1436-9. doi: 10.1136/gut.2005.083618. Epub 2006 Feb 9.
A familial predisposition to colorectal cancer (CRC) has been clearly established, consisting of familial clustering in 15-20% and clear hereditary aetiology in 5-10% of overall CRC cases. Early identification of families and individuals at high risk is essential as intensive surveillance has been demonstrated to reduce cancer incidence and overall mortality. In the present study, the value of oral mucosal light reflectance in identifying hereditary non-polyposis colorectal cancer (HNPCC) carriers was investigated.
Twenty members of six different genetically unrelated HNPCC kindred and 30 genetically unrelated age and sex matched healthy controls were examined. Lower gingival and vestibular oral mucosal reflectance was measured using an imaging spectrophotometer.
HNPCC carriers showed significantly lower values in the 590-700 nm wavelength range (p<or=0.0004). A reflectance cut off value <or=47.9% at the 700 nm wavelength discriminated between HNPCC carriers and controls, with 100% sensitivity and 100% specificity.
These findings may provide an additional phenotypic sign in HNPCC carriers, which could be used in first level CRC population screening programmes.
结直肠癌（CRC）的家族易感性已得到明确证实，在所有CRC病例中，15% - 20%存在家族聚集现象，5% - 10%有明确的遗传病因。早期识别高危家庭和个体至关重要，因为强化监测已被证明可降低癌症发病率和总体死亡率。在本研究中，调查了口腔黏膜光反射率在识别遗传性非息肉病性结直肠癌（HNPCC）携带者中的价值。
检查了6个不同的无遗传关系的HNPCC家系的20名成员以及30名年龄和性别匹配的无遗传关系的健康对照者。使用成像分光光度计测量下牙龈和前庭口腔黏膜的反射率。
HNPCC携带者在590 - 700纳米波长范围内的值显著较低（p≤0.0004）。在700纳米波长处，反射率截止值≤47.9%可区分HNPCC携带者和对照者，敏感性和特异性均为100%。
这些发现可能为HNPCC携带者提供一个额外的表型特征，可用于一级CRC人群筛查项目。
