A case of metastatic medullary thyroid carcinoma: early identification before surgery of an RET proto-oncogene somatic mutation in fine-needle aspirate specimens.
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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Dipartimento di Medicina Sperimentale e Clinica, Facoltà di Farmacia, Università di Reggio Calabria, Catanzaro, Italy.
Arturi
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Chiefari
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Meringolo
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Bianchi
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Bellanova
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Filetti
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D001483:Base Sequence; D001707:Biopsy, Needle; D018276:Carcinoma, Medullary / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D003062:Codon / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D029721:Drosophila Proteins; D006801:Humans; D008207:Lymphatic Metastasis / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000473:pathology* / Q000601:surgery
D003062:Codon; D018076:DNA, Complementary; D029721:Drosophila Proteins; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila