[Multiple endocrine neoplasia 2a: late manifestation of a newly-discovered mutation].

Abstract A 55-year-old patient presented with a painless right-sided cervical swelling, which had been present for four months and seemed to get larger. The patient denied dyspnea, dysphagia, "a lump in the throat" or thyroid disease. Two of his paternal aunts had thyroid carcinoma and an adrenal tumor. Ultrasonography revealed an enlarged lymphoid nodule and a large lesion in the right thyroid lobe, the latter with deficient technetium uptake on scintigraphy. A total thyroidectomy with bilateral centrocervical and lateral neck dissection was performed. Histology revealed a bilateral medullary thyroid carcinoma [MTC: pT3, pN1b (9/34), pM0 (UICC 2002)] and the genetic screening showed a double mutation in codon 611 (TGC>TAT; p.Cys611Tyr; C611Y), and exon 10 of the RET proto-oncogene, which has not been described before. Pheochromocytoma and hyperparathyroidism were excluded. Genetic screening of all close family members was initiated and showed that four of them were gene carriers. Three of them have been operated and a MTC found. The described newly discovered mutation is associated with MTC and pheochromocytoma. This case underlines the need of genetic screening in all patients who present with a MTC only, no matter what the person's age of manifestation, even in the absence of any other MEN-related disease.