title: A primary, lateral-cervical medullary thyroid carcinoma: a case report.
abstract: Medullary thyroid carcinoma (MTC) arises from the parafollicular cells of the thyroid and occurs in a sporadic or in an inherited form. We present a case of an aberrant MTC in a patient with a functioning thyroid gland. At surgical dissection, the thyroid was present in its anatomical site with a nodule in the upper one third of the right lobe. A mass was also found in a lateral-cervical position distinct from the thyroid gland. Histological examination showed the mass to be the primary MTC, whereas the thyroid nodule was a follicular adenoma. Analysis of DNA extracted from the MTC, from the adenoma, and from peripheral blood revealed a mutation within exon 16 of the RET proto-oncogene only in the DNA from the tumor. The reported case represents a sporadic MTC in an aberrant localization, probably originating from a developmental abnormality of the primordial C cells. This event might have occurred during the migration and/or differentiation of the C cells and might be related to, or caused by, the mutated RET proto-oncogene.
authors.affiliation: Istituto di Semeiotica Chirurgica, Facoltà di Medicina, Seconda Università degli Studi di Napoli, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Santini
authors.forename: C
authors.initials: C
authors.lastname: Scurini
authors.forename: C
authors.initials: C
authors.lastname: Caracò
authors.forename: G
authors.initials: G
authors.lastname: Conzo
authors.forename: P
authors.initials: P
authors.lastname: Orabona
authors.forename: G
authors.initials: G
authors.lastname: De Rosa
authors.forename: O
authors.initials: O
authors.lastname: Fattoruso
authors.forename: V
authors.initials: V
authors.lastname: Colantuoni
mesh_terms: D000328:Adult; D018276:Carcinoma, Medullary / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D004273:DNA, Neoplasm / Q000032:analysis; D029721:Drosophila Proteins; D005091:Exons; D006801:Humans; D008297:Male; D009154:Mutation; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D013961:Thyroid Gland / Q000473:pathology / Q000503:physiopathology; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology
chemical_list: D004273:DNA, Neoplasm; 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