title: Detection of BRAFV600E mutation on papillary thyroid carcinoma and metastatic malignant melanoma by fine-needle aspiration cytology: how genetic testing may drive toward personalized medicine.
abstract: A genetic link between cutaneous melanoma and thyroid cancer (TC) has been identified. A high percentage of both melanomas and papillary carcinomas of the thyroid harbors a recurrent mutation (i.e., BRAF(V600E) ) in the BRAF oncogene. Herein, we report the case of a 65-year-old man with papillary TC and cutaneous malignant melanoma metastatic to masseter muscle, both characterized by BRAF mutation. This is one of the rare reports in which a complete molecular characterization has been performed. As the patients with papillary thyroid carcinoma have a higher risk of malignant melanoma and vice versa, continuous monitoring of such patients, with either of these tumors is necessary. Fine-needle aspiration cytology is useful as shown in the present case.
authors.affiliation: Department of Medical Biotechnology Section of Pathology, University of Siena, Italy.
authors.forename: Bruno Jim
authors.initials: BJ
authors.lastname: Rocca
authors.forename: Maria Raffaella
authors.initials: MR
authors.lastname: Ambrosio
authors.forename: Alessandro
authors.initials: A
authors.lastname: Ginori
authors.forename: Andrea
authors.initials: A
authors.lastname: Disanto
mesh_terms: D000368:Aged; D044963:Biopsy, Fine-Needle; D002291:Carcinoma, Papillary / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008545:Melanoma / Q000175:diagnosis / Q000235:genetics* / Q000556:secondary; D020125:Mutation, Missense; D057285:Precision Medicine; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D016606:Thyroid Nodule / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: BRAF; malignant melanoma; papillary thyroid carcinoma