Lynch H T, Richardson J D, Amin M, Lynch J F, Cavalieri R J, Bronson E, Fusaro R M
Department of Preventive Medicine/Public Health, Creighton University School of Medicine, Omaha, Nebraska 68178.
Dis Colon Rectum. 1991 Oct;34(10):891-5. doi: 10.1007/BF02049703.
There are no premonitory physical signs or biomarkers which can identify the genotypic status in Lynch syndrome II. Diagnosis is therefore dependent on the pedigree, with attention to cancer of all anatomic sites, inclusive of those cardinal features of its natural history. The tumor spectrum in Lynch syndrome II has continued to expand commensurately with increasing interest in this disorder. We report a family showing the constant cancer features of this syndrome but, in addition, occurrences of carcinoma of the bile duct, urologic system, and extremely early-onset carcinoma of the pancreas, in patients in the direct genetic lineage who were considered to be candidates for having inherited the deleterious genotype. Diagnosis of Lynch syndrome II is crucial in targeting its surveillance and management.
在林奇综合征II型中，没有能够识别基因型状态的先兆体征或生物标志物。因此，诊断依赖于家族谱系，要关注所有解剖部位的癌症，包括其自然病史的那些主要特征。随着对这种疾病的兴趣增加，林奇综合征II型的肿瘤谱也在相应地不断扩大。我们报告了一个家族，该家族显示出这种综合征持续存在的癌症特征，但除此之外，在被认为可能遗传了有害基因型的直系遗传谱系患者中，还出现了胆管癌、泌尿系统癌以及极早期的胰腺癌。林奇综合征II型的诊断对于其监测和管理至关重要。
