Lynch H T, Smyrk T C, Watson P, Lanspa S J, Lynch P M, Jenkins J X, Rouse J, Cavalieri J, Howard L, Lynch J
Department of Preventive Medicine/Public Health, Creighton University School of Medicine, Omaha, Nebraska.
Dis Colon Rectum. 1992 May;35(5):411-21. doi: 10.1007/BF02049396.
We describe the clinical and pathologic features in four extended kindreds that are consistent with the hereditary flat adenoma syndrome (HFAS). This colon cancer susceptibility disorder is believed to be inherited as an autosomal dominant. The principal phenotypic marker is multiple colonic adenomas (usually less than 100), with a tendency for proximal location. The majority of these adenomas are flat or slightly raised and plaquelike, as opposed to polypoid. Colon cancers have typically developed in middle age and show no unusual histologic features. There are a variety of extracolonic manifestations, including adenomas and carcinomas of the small bowel and fundic gland polyps. The HFAS is contrasted with hereditary nonpolyposis colorectal cancer and familial adenomatous polyposis (FAP) and shown to be distinct from both in the numbers and distribution of colonic adenomas and the typical age of cancer diagnosis. The clinical implications of these findings are discussed. Given its linkage to the FAP locus on 5q and the phenotypic parallels between HFAS and FAP, we conclude that HFAS is a variant of FAP.
我们描述了四个与遗传性扁平腺瘤综合征（HFAS）相符的大家族的临床和病理特征。这种结肠癌易感性疾病被认为是常染色体显性遗传。主要的表型标志物是多个结肠腺瘤（通常少于100个），倾向于近端定位。这些腺瘤大多数是扁平的或略有隆起且呈斑块状，与息肉状腺瘤不同。结肠癌通常在中年发病，且无异常组织学特征。有多种结肠外表现，包括小肠腺瘤和癌以及胃底腺息肉。将HFAS与遗传性非息肉病性结直肠癌和家族性腺瘤性息肉病（FAP）进行了对比，结果表明，在结肠腺瘤的数量和分布以及癌症诊断的典型年龄方面，HFAS与两者均不同。讨论了这些发现的临床意义。鉴于其与5号染色体上FAP基因座的连锁关系以及HFAS与FAP之间的表型相似性，我们得出结论，HFAS是FAP的一种变体。
