Activating BRAF mutation in sclerosing mucoepidermoid carcinoma with eosinophilia of the thyroid gland: two case reports and review of the literature.
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.


CASE PRESENTATION
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.
['Sukumar|Jasmine S|JS|', 'Sukumar|Senthil|S|', 'Purohit|Darshana|D|', 'Welch|Brian J|BJ|', 'Balani|Jyoti|J|', 'Yan|Shirley|S|', 'Hathiramani|Sumitha S|SS|']
D000368:Aged D000970:Antineoplastic Agents D014408:Biomarkers, Tumor D018277:Carcinoma, Mucoepidermoid D004802:Eosinophilia D005260:Female D006801:Humans D007680:Kidney Neoplasms D009154:Mutation D048493:Proto-Oncogene Proteins B-raf D013964:Thyroid Neoplasms D013965:Thyroidectomy D016896:Treatment Outcome
BRAF Sclerosing mucoepidermoid carcinoma with eosinophilia Thyroid cancer V600E Renal metastases