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A Case of Metastatic Medullary Thyroid Carcinoma: Early Identification Before Surgery of an RET Proto-Oncogene Somatic Mutation in Fine-Needle Aspirate Specimens¹

Cattedra di Endocrinologia, Dipartimento di Medicina Sperimentale e Clinica (F.A., S.F., E.C.), Cattedra di Farmacologia, Facoltà di Farmacia (D.R.), Università di Reggio Calabria, Via T. Campanella, 88100 Catanzaro, Italy; Unità Operativa di Endocrinologia (D.M., D.B.), Ospedale Bentivoglio; and Servizio di Medicina Nucleare Policlinico S. Orsola-Malpighi (B.B.), Bologna, Italy

Address all correspondence and requests for reprints to: Sebastiano Filetti, Cattedra di Endocrinologia, Dipartimento di Medicina Sperimentale e Clinica, Via T. Campanella, 88100 Catanzaro, Italy. E-mail: filetti{at}mbox.vol.it

Medullary thyroid carcinoma (MTC) management requires determination of the sporadic or familial nature of the disease. RET proto-oncogene mutation analysis in the tumor tissue obtained at surgery and in the peripheral blood identifies somatic vs. germinal mutations. We now report a case of MTC in which a RET somatic mutation at codon 918 was detected in fine-needle aspiration specimens obtained from both the thyroid nodule and two enlarged neck lymph nodes but not in peripheral blood. Therefore, a diagnosis of sporadic MTC was made before surgery. Thus, this approach, by excluding preoperatively multiple endocrine neoplasia disease, permitted immediate thyroidectomy without search for pheochromocytoma. PCR-based genetic analysis in fine-needle aspiration biopsy specimens, therefore, preoperatively identifies genetic abnormalities at an early and easily manageable stage and may well contribute to the management strategy of MTC.

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