Sukumar Jasmine S, Sukumar Senthil, Purohit Darshana, Welch Brian J, Balani Jyoti, Yan Shirley, Hathiramani Sumitha S
Department of Internal Medicine, UT Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390, USA.
Department of Endocrinology, Capital Diabetes and Endocrine Associates, 5801 Allentown Road, Suite 500, Camp Springs, MD, 20746, USA.
J Med Case Rep. 2019 Dec 28;13(1):385. doi: 10.1186/s13256-019-2288-0.
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.
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.
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.
嗜酸性硬化性黏液表皮样癌是一种罕见的甲状腺癌形式。嗜酸性硬化性黏液表皮样癌发生的潜在分子机制尚不清楚。
我们报告两例嗜酸性硬化性黏液表皮样癌，均合并甲状腺乳头状癌。病例1为一名70岁的白人女性，患有嗜酸性硬化性黏液表皮样癌并伴有远处肾转移及并存的甲状腺乳头状癌。病例2为一名74岁的白人女性，既往有甲状腺癌病史，曾接受甲状腺切除术，现患有局部侵袭性嗜酸性硬化性黏液表皮样癌及甲状腺床复发性甲状腺乳头状癌。对嗜酸性硬化性黏液表皮样癌肿瘤进行了BRAF突变研究。在这两个病例中，嗜酸性硬化性黏液表皮样癌经聚合酶链反应检测BRAF V600E突变均为阳性。据我们所知，病例1是首例报道的伴有肾转移的嗜酸性硬化性黏液表皮样癌。
据我们所知，我们的研究结果首次提示RAS-RAF-MEK-ERK信号通路参与了嗜酸性硬化性黏液表皮样癌的发病机制。因此对于一部分具有BRAF激活突变的侵袭性嗜酸性硬化性黏液表皮样癌患者，BRAF抑制剂可能是一种有效的靶向治疗药物。
