Early detection of colonic cancer by histologic and genetic analysis of thyroid tissue

1994年，Harach等人对4例家族性腺瘤性息肉病（FAP）相关甲状腺癌进行了组织学回顾，发现了一种不同寻常的乳头状癌的独特形态。肿瘤具有乳头状癌的一些特征，但也表现为筛状和梭形细胞组成的实区。作者的结论是，这种独特的组织学图像应该提醒病理学家筛查这些患者及其家属是否患有FAP。另一方面，本组于1992年报道了4例罕见的甲状腺乳头状癌，其核间隙由微丝组成。现在很明显，我们报告的病例在组织学上与Harach等人描述的病例相同。迄今为止，已报道了一百多例fap相关的甲状腺癌。大多数表现出Harach等人和我们小组所描述的独特的组织学。然而，一些非fap患者的甲状腺癌表现出这种独特的形态。Cameselle-Teijeiro等人建议将这种肿瘤命名为乳头状癌的筛状-摩尔变异型。我们对3例这种类型的癌相关FAP患者进行了超微结构和遗传学研究。在摩尔区核清除区有大量长约100 nm的微丝。一些患者表现为种系APC突变，也有体细胞APC突变。这两个突变都发生在以前未报道的区域。我们的研究为了解这种罕见肿瘤的发展提供了新的信息。

In 1994, Harach et al. histologically reviewed four cases of familial adenomatous polyposis (FAP)-associated thyroid cancer, and identified a distinctive morphology with unusual papillary carcinomas. The tumors had some features of papillary carcinoma, but also exhibited a cribriform pattern and solid areas with a spindle cell component. The authors concluded that this distinct histological picture should alert pathologists to screen such patients and their families far FAP. On the other hand, our group previously, in 1992, reported four unusual papillary thyroid carcinoma cases with peculiar nuclear clearings composed of microfilaments. It is now apparent that our reported cases are histologically identical to the cases described by Harach et al. Over one hundred cases of FAP-associated thyroid carcinoma have reported to date. Most showed the distinct histology that Harach et al. and our group have described. However, some thyroid cancers in non-FAP patients have shown this distinct morphology. Cameselle-Teijeiro et al. proposed naming this tumor the cribriform-morular variant of papillary carcinoma.We performed ultrastructural and genetic studies of three patients with this type of carcinoma associated FAP. There were numerous microfilaments approximately 100 nm long, at the nuclear clearing area of the morular regions. Some patients showed germline APC mutations, and also had a somatic APC mutation. Both mutations were in previously unreported regions. Our study provides new information for understanding the development of this rare tumor.