Genetic testing is the appropriate procedure in MEN 2A syndrome for the early diagnosis of medullary carcinoma even at a preclinical stage. Prophylactic total thyroidectomy represents the standard preventive and therapeutic surgical approach in the treatment of medullary thyroid carcinoma in MEN 2A syndrome. Our experience has confirmed the presence of CCH and medullary thyroid carcinoma even in clinically negative patients, in agreement with reports in the literature.
BrandiM.L., GagelR.F., AngeliA., BilezikianJ.P., Beck-PeccozP., BordiC., Conte-DevolxB., FalchettiA., GheriR.G., LibroiaA., LipsC.J., LombardiG., MannelliM., PaciniF., PonderB.A., RaueF., SkogseidB., TamburranoG., ThakkerR.V., ThompsonN.W., TomassettiP., TonelliF., WellsS.A.Jr., MarxS.J.: Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab, 86: 5658–5671, 2001.
2.
FrohnauerM.K., DeckerR.A.: Update on the MEN 2A c804 RET mutation: is prophylactic thyroidectomy indicated?Surgery, 128: 1052–1058, 2000.
3.
LallierM., St-VilD., GirouxM., HuotC., GabouryL., OlignyL., DesjardinsJ.G.: Prophylactic thyroidectomy for medullary thyroid carcinoma in gene carriers of MEN2 syndrome. J Pediatr Surg, 33: 846–848, 1998.
4.
MulliganL.M., KwokJ.B., HealeyC.S., ElsdonM.J., EngC., GardnerE., LoveD.R., MoleS.E., MooreJ.K., PapiL.: Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature, 363: 458–460, 1993.
5.
RodriguezG.J., BalsalobreM.D., PomaresF., TorregrosaN.M., RiosA., CarbonellP., GlowerG., SolaJ., TebarJ., ParrillaP.: Prophylactic thyroidectomy in MEN 2A syndrome: experience in a single center. J Am Coll Surg, 195: 159–166, 2002.
6.
SansoG.E., DomeneH.M., GarciaR., PusiolE., deM., RoqueM., RingA., PerinettiH., EisnerB., IorcanskyS., BarontiniM.: Very early detection of RET proto-oncogene mutation is crucial for preventive thyroidectomy in multiple endocrine neoplasia type 2 children: presence of C-cell malignant disease in asymptomatic carriers. Cancer, 94: 323–330, 2002.
7.
Van HeurnL.W., SchaapC., SieG., HaagenA.A., GerverW.J., FrelingG., van AmstelH.K., HeinemanE.: Predictive DNA testing for multiple endocrine neoplasia 2: a therapeutic challenge of prophylactic thyroidectomy in very young children. J Pediatr Surg, 34: 568–571, 1999.
