Lynch H T, Ens J, Lynch J F, Watson P
Department of Preventive Medicine/Public Health, Creighton University School of Medicine, Omaha, Nebraska.
Am J Gastroenterol. 1988 Jul;83(7):741-7.
Lynch syndrome II is characterized by an autosomal dominantly inherited susceptibility to early onset colon cancer with proximal predominance, an excess of synchronous and metachronous colonic cancer, carcinoma of the endometrium, ovary, and multiple primary cancer excess. Knowledge of the full tumor spectrum in this disorder(s) remains elusive. Cancers that are uncommon in this disease, but present in three extended Lynch syndrome II families, included brain tumors, carcinoma of the bile duct, duodenum, the urological system, and breasts. Long-term followup of these families (as long as two decades) provided the opportunity to trace in depth this tumor spectrum. Full scrutiny of cancer of all anatomic sites in the absence of biomarkers of high sensitivity and specificity to the cancer-prone genotype will be necessary to comprehend more clearly whether these (or other) cancer sites are integral to this disorder, whether common environmental exposures are involved and, finally, whether chance can explain these cancer associations.
林奇综合征II的特征是常染色体显性遗传易患早发性结肠癌，近端发病为主，同时性和异时性结肠癌、子宫内膜癌、卵巢癌以及多种原发性癌症过多。对这种疾病的完整肿瘤谱的了解仍然不清楚。在这种疾病中不常见但在三个林奇综合征II扩展家系中出现的癌症包括脑肿瘤、胆管癌、十二指肠癌、泌尿系统癌和乳腺癌。对这些家系长达二十年的长期随访提供了深入追踪这种肿瘤谱的机会。在缺乏对癌症易感基因型具有高敏感性和特异性的生物标志物的情况下，对所有解剖部位的癌症进行全面检查，对于更清楚地理解这些（或其他）癌症部位是否是这种疾病的一部分、是否涉及常见环境暴露以及最终偶然因素能否解释这些癌症关联是必要的。
