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BRAF mutations in thyroid tumors are restricted to papillary carcinomas and anaplastic or poorly differentiated carcinomas arising from papillary carcinomas

机译：甲状腺肿瘤中的BRAF突变仅限于乳头状癌和由乳头状癌引起的间变性或低分化癌

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Activating point mutations of the BRAF gene have been recently reported in papillary thyroid carcinomas. In this study, we analyzed 320 thyroid tumors and six anaplastic carcinoma cell lines and detected BRAF mutations in 45 (38%) papillary carcinomas, two (13%) poorly-differentiated carcinomas, three (10%) anaplastic carcinomas, and five (83%) thyroid anaplastic carcinoma cell lines but not in follicular, Hurthle cell, and medullary carcinomas, follicular and Hurthle cell adenomas, or benign hyperplastic nodules. All mutations involved a T-->A transversion at nucleotide 1796. In papillary carcinomas, BRAF mutations were associated with older age, classic papillary carcinoma or tall cell variant histology, extrathyroidal extension, and more frequent presentation at stages III and IV. All BRAF-positive poorly differentiated and anaplastic carcinomas contained areas of preexisting papillary carcinoma, and mutation was present in both the well-differentiated and dedifferentiated components. These data indicate that BRAF mutations are restricted to papillary carcinomas and poorly differentiated and anaplastic carcinomas arising from papillary carcinomas. They are associated with distinct phenotypical and biological properties of papillary carcinomas and may participate in progression to poorly differentiated and anaplastic carcinomas.
机译：最近在甲状腺乳头状癌中报道了BRAF基因的激活点突变。在这项研究中，我们分析了320例甲状腺肿瘤和6种间变性癌细胞系，并在45（38％）乳头状癌，2（13％）低分化癌，3（10％）间变性癌和5（83 ％）甲状腺间变性癌癌细胞系，但不存在于滤泡性，Hurthle细胞和髓样癌，滤泡性和Hurthle细胞腺瘤或良性增生性结节中。所有突变均涉及核苷酸1796处的T-> A转换。在乳头状癌中，BRAF突变与年龄较大，经典的乳头状癌或高细胞变体组织学，甲状腺外扩张以及在III和IV期的出现频率更高有关。所有BRAF阳性的低分化和间变性癌均包含先前存在的乳头状癌区域，并且在高分化和低分化成分中均存在突变。这些数据表明BRAF突变仅限于乳头状癌以及由乳头状癌引起的低分化和间变性癌。它们与乳头状癌的独特表型和生物学特性有关，并可能参与低分化和间变性癌的发展。

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