Guimbaud R, Selves J
Fédération Transversale de Cancérologie, Consultation Oncogénétique, Institut Claudius Regaud et CHU, Toulouse.
J Chir (Paris). 2003 Dec;140(6):317-23.
Hereditary Non-Polyposis Colon Cancer (HNPCC) or Lynch's Syndrome remains an underappreciated clinical entity-perhaps due to the restrictiveness of the diagnostic criteria. Even though HNPCC makes up only a small fraction (2-3%) of Colorectal Cancer (CRC) compared with sporadic CRC, it is important to make the diagnosis to allow for targeted management of the patients and their kindreds and thus to reduce morbidity and mortality. Better knowledge of tumor characteristics including RER phenotype may allow for the application of less restrictive diagnostic criteria; but these characteristics are not specific to HNPCC and also occur in 15% of sporadic CRC. Nevertheless, a screening strategy combining a broader clinical selection (less strict than the Amsterdam criteria) with a study of tumoral phenotype may allow the identification of more cases of HNPCC. The physician caring for cases of CRC must be aware of these screening strategies and relevant clinical and biological clues which might indicate a more complete genetic investigation.
遗传性非息肉病性结直肠癌（HNPCC）或林奇综合征仍是一个未得到充分认识的临床实体——这可能是由于诊断标准较为严格。尽管与散发性结直肠癌相比，HNPCC在结直肠癌（CRC）中仅占一小部分（2%-3%），但做出诊断对于患者及其亲属进行针对性管理从而降低发病率和死亡率很重要。更好地了解包括错配修复缺陷（RER）表型在内的肿瘤特征可能会允许应用限制较少的诊断标准；但这些特征并非HNPCC所特有，在15%的散发性CRC中也会出现。然而，将更广泛的临床选择（比阿姆斯特丹标准宽松）与肿瘤表型研究相结合的筛查策略可能会识别出更多HNPCC病例。负责CRC病例的医生必须了解这些筛查策略以及可能表明需要进行更全面基因检测的相关临床和生物学线索。
