title: Activating BRAF Mutations Detected in Mixed Hürthle Cell Carcinoma and Multifocal Papillary Carcinoma of the Thyroid Gland: Report of an Unusual Case and Review of the Literature.
abstract: Despite the increase in the incidence of thyroid carcinomas, the occurrence of collision tumors in the thyroid remains a rare event. We present the case of a 69-year-old female who presented to the emergency department with a chief complaint of painful neck swelling. Imaging revealed a large right hemithyroid mass and a left hemithyroid nodule. Fine needle aspiration of the lesions and subsequent total thyroidectomy revealed a Hürthle cell carcinoma in the right lobe and bilateral multicentric papillary carcinoma foci, including 2 foci with a classical pattern and 1 encapsulated follicular variant in the isthmus. BRAF gene mutation analysis revealed V600E gene mutation in the classical variants of papillary carcinoma and in the Hürthle cell carcinoma. The focus of follicular variant of papillary carcinoma in the isthmus and a sample from normal thyroid tissue did not harbor BRAF mutations. This case is remarkable in being an unusual report of a follicular Hürthle cell carcinoma harboring the BRAF V600E mutation and occurring in collision with multifocal papillary carcinoma. Documentation of such cases is important as it helps better understand the pathogenesis, clinical behavior, and radiologic findings of such rare lesions and to determine the optimal treatment modalities.
authors.affiliation: American University of Beirut Medical Center, Beirut, Lebanon.
authors.forename: Sara
authors.initials: S
authors.lastname: Sinno
authors.affiliation: American University of Beirut Medical Center, Beirut, Lebanon.
authors.forename: Mahmoud
authors.initials: M
authors.lastname: Choucair
authors.affiliation: American University of Beirut Medical Center, Beirut, Lebanon.
authors.forename: Mona
authors.initials: M
authors.lastname: Nasrallah
authors.affiliation: American University of Beirut School of Medicine, Beirut, Lebanon.
authors.forename: Lara
authors.initials: L
authors.lastname: Wadi
authors.affiliation: American University of Beirut Medical Center, Beirut, Lebanon.
authors.forename: Mark N
authors.initials: MN
authors.lastname: Jabbour
authors.affiliation: American University of Beirut Medical Center, Beirut, Lebanon sn22@aub.edu.lb.
authors.forename: Samer
authors.initials: S
authors.lastname: Nassif
mesh_terms: D018249:Adenoma, Oxyphilic / Q000235:genetics* / Q000473:pathology; D000368:Aged; D002277:Carcinoma / Q000235:genetics* / Q000473:pathology; D002291:Carcinoma, Papillary; D005260:Female; D006801:Humans; D009154:Mutation; D009378:Neoplasms, Multiple Primary / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D000077273:Thyroid Cancer, Papillary; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: BRAF; Hürthle cell carcinoma; collision tumor; papillary thyroid carcinoma