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Published in: Journal of Medical Case Reports 1/2019

Open Access 01-12-2019 | Metastasis | Case report

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

Authors: Jasmine S. Sukumar, Senthil Sukumar, Darshana Purohit, Brian J. Welch, Jyoti Balani, Shirley Yan, Sumitha S. Hathiramani

Published in: Journal of Medical Case Reports | Issue 1/2019

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Abstract

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.
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Metadata
Title
Activating BRAF mutation in sclerosing mucoepidermoid carcinoma with eosinophilia of the thyroid gland: two case reports and review of the literature
Authors
Jasmine S. Sukumar
Senthil Sukumar
Darshana Purohit
Brian J. Welch
Jyoti Balani
Shirley Yan
Sumitha S. Hathiramani
Publication date
01-12-2019
Publisher
BioMed Central
Published in
Journal of Medical Case Reports / Issue 1/2019
Electronic ISSN: 1752-1947
DOI
https://doi.org/10.1186/s13256-019-2288-0

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