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

1994年，Harach等对4例家族性腺瘤性息肉病（FAP）相关的甲状腺癌进行了组织学回顾，发现了一种特殊的形态学，即不寻常的乳头状癌。肿瘤具有乳头状癌的一些特征，但也表现出筛状模式和梭形细胞成分的实性区域。作者得出结论，这种独特的组织学图像应该提醒病理学家对此类患者及其家属进行FAP筛查。另一方面，本研究组在1992年曾报告四例甲状腺乳头状癌，其细胞核内有由微丝构成的特殊透明区。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，已有超过100例FAP相关甲状腺癌的报道。大多数显示出独特的组织学，Harach等人和我们的小组已经描述。然而，一些非FAP患者的甲状腺癌显示出这种独特的形态。Cameselle-Teijeiro等建议将这种肿瘤命名为乳头状癌的筛状-桑椹状变体。我们对3例与FAP相关的这类肿瘤患者进行了超微结构和遗传学研究。在桑椹区的核透明区有许多约100 nm长的微丝。一些患者表现出生殖系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.