V600E

V600E
  • 文章类型: Case Reports
    背景:伴有嗜酸性粒细胞增多的硬化性黏液表皮样癌是一种罕见的甲状腺癌。硬化性粘液表皮样癌伴嗜酸性粒细胞肿瘤发生的潜在分子机制尚不清楚。
    方法:我们介绍了2例伴有嗜酸性粒细胞增多的硬化性黏液表皮样癌,同时伴有甲状腺乳头状癌。患者1,一名70岁的白人女性,表现为硬化性粘液表皮样癌伴嗜酸性粒细胞增多伴远处肾转移和并存的甲状腺乳头状癌。患者2,一名74岁的高加索女性,有甲状腺切除术治疗的甲状腺癌远隔病史,甲状腺床伴有嗜酸性粒细胞增多和复发性甲状腺乳头状癌。对患有嗜酸性粒细胞增多症的硬化性粘液表皮样癌进行了BRAF突变研究。在这两种情况下,通过聚合酶链反应,伴有嗜酸性粒细胞增多的硬化性粘液表皮样癌BRAFV600E突变呈阳性。患者1是第一例报告的硬化性粘液表皮样癌伴嗜酸性粒细胞增多伴肾转移,据我们所知.
    结论:我们的研究结果表明,第一次,根据我们的知识,RAS-RAF-MEK-ERK信号通路参与伴有嗜酸性粒细胞增多的硬化性黏液表皮样癌的发病机制。因此,BRAF抑制剂可能被证明是治疗表现出BRAF激活突变的侵袭性硬化性粘液表皮样癌伴嗜酸性粒细胞肿瘤的患者亚群的有用靶向药物疗法。
    BACKGROUND: Sclerosing mucoepidermoid carcinoma with eosinophilia is a rare form of thyroid carcinoma. The underlying molecular mechanisms of sclerosing mucoepidermoid carcinoma with eosinophilia tumorigenesis remain unknown.
    METHODS: We present two cases of sclerosing mucoepidermoid carcinoma with eosinophilia, both with a concurrent papillary thyroid carcinoma. Patient 1, a 70-year-old Caucasian woman, presented with sclerosing mucoepidermoid carcinoma with eosinophilia with distant renal metastasis and coexisting papillary thyroid carcinoma. Patient 2, a 74-year-old Caucasian woman with a remote history of thyroid cancer treated with thyroidectomy, presented with locoregionally invasive sclerosing mucoepidermoid carcinoma with eosinophilia and recurrent papillary thyroid carcinoma in the thyroid bed. BRAF mutation studies were performed on the sclerosing mucoepidermoid carcinoma with eosinophilia tumors. In both cases, sclerosing mucoepidermoid carcinoma with eosinophilia was positive for the BRAF V600E mutation by polymerase chain reaction. Patient 1 is the first reported case of sclerosing mucoepidermoid carcinoma with eosinophilia with renal metastasis, to the best of our knowledge.
    CONCLUSIONS: Our findings suggest, for the first time, to our knowledge, involvement of the RAS-RAF-MEK-ERK signaling pathway in the pathogenesis of sclerosing mucoepidermoid carcinoma with eosinophilia. Thus, BRAF inhibitors may prove to be a useful targeted medical therapy in the treatment of a subset of patients with aggressive sclerosing mucoepidermoid carcinoma with eosinophilia tumors who exhibit BRAF activating mutation.
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