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

Autor: Sukumar JS; Department of Internal Medicine, UT Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390, USA., Sukumar S; Department of Internal Medicine, UT Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390, USA., Purohit D; Department of Endocrinology, Capital Diabetes and Endocrine Associates, 5801 Allentown Road, Suite 500, Camp Springs, MD, 20746, USA., Welch BJ; Department of Endocrinology, Baylor University Medical Center, 3500 Gaston Avenue, Dallas, TX, 75246, USA., Balani J; Department of Pathology, UT Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390, USA., Yan S; Department of Pathology, UT Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390, USA., Hathiramani SS; Department of Internal Medicine, UT Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390, USA. sumitha.hathiramani@va.gov.; Division of Endocrinology, VA North Texas Healthcare System, 4500 South Lancaster Road, Dallas, TX, 75216, USA. sumitha.hathiramani@va.gov.
Jazyk: angličtina
Zdroj: Journal of medical case reports [J Med Case Rep] 2019 Dec 28; Vol. 13 (1), pp. 385. Date of Electronic Publication: 2019 Dec 28.
DOI: 10.1186/s13256-019-2288-0
Abstrakt: 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.
Databáze: MEDLINE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje