[Polyadenomatoses: type 2 multiple endocrine neoplasms].
FROM A CLINICAL POINT OF VIEW: Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant, inherited multiglandular disease with familial and individual age-related penetration and variable expression. A medullary thyroid carcinoma (MTC) is always concomitant to MEN2 and associated in varying proportion with pheochromocytoma (50%) and hyperparathyroidism (5 to 20%). PROGNOSTIC DATA: The prognosis of MEN2 is related to the carcinological evolution of MTC, which depends mainly on the stage of discovery and the quality of the first surgical treatment, emphasizing the need for early diagnosis. THE IMPORTANCE OF THE ERT GENE: The identification of mutations in proto-oncogene RET, responsible for the various forms of the disease allows subjects at risk in a family circle to be identified and early screening of various endocrine damage, notably MTC, should be performed. Biological explorations in all persons carrying this mutation would permit diagnosis and surgical treatment of the endocrine lesions, before their clinical manifestation.
Conte-Devolx
B
B
Service d'Endocrinologie-Maladies Métaboliques, Hôpital de la Timone 13385 Marseille. bconte-devolx@aphm.fr
Niccoli-Sire
P
P
D000310:Adrenal Gland Neoplasms / Q000175:diagnosis / Q000235:genetics; D018276:Carcinoma, Medullary / Q000175:diagnosis / Q000235:genetics; D029721:Drosophila Proteins; D005820:Genetic Testing; D006801:Humans; D006961:Hyperparathyroidism / Q000175:diagnosis / Q000235:genetics; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D010673:Pheochromocytoma / Q000175:diagnosis / Q000235:genetics; D011379:Prognosis; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D012306:Risk; D013964:Thyroid Neoplasms / Q000175:diagnosis / Q000235:genetics
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