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BRAFV600E突变是甲状腺乳头状癌中最常见的基因突变,在甲状腺乳头状癌的发生发展和浸润转移中发挥了重要作用。BRAFV600E突变对甲状腺乳头状癌的诊断和预后判断有重要的价值,针对BRAF蛋白激酶及其下游效应器的靶向抑制剂治疗是BRAFV600E突变甲状腺癌治疗的新方向。  相似文献   

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BACKGROUND: There is an increasing awareness of the association of papillary thyroid carcinoma and familial adenomatous polyposis (FAP). Although the incidence is rare, most tend to occur in women. Several authors have described a distinctive histologic variant of papillary thyroid carcinoma, the cribriform-morular variant, which is associated with FAP but also may be encountered in patients with non-FAP. This diagnosis may precede the symptoms of colorectal polyposis. METHODS: A healthy 36-year-old woman was seen with a left thyroid nodule, and a 34-year-old woman with FAP was seen with a right thyroid nodule; both masses were suspicious for papillary thyroid carcinoma. Both patients underwent total thyroidectomy. RESULTS: Pathologic examination of both specimens revealed papillary thyroid carcinoma, cribriform-morular variant. The first patient subsequently underwent colonoscopy, which was negative for polyposis. CONCLUSIONS: Patients diagnosed with the cribriform-morular variant of papillary thyroid cancer should be screened for the presence of FAP.  相似文献   

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