Clinical Screening as Compared with DNA Analysis in Families with Multiple Endocrine Neoplasia Type 2A

Multiple endocrine neoplasia type 2A (MEN-2A) is an inherited disease characterized by medullary thyroid carcinoma, pheochromocytoma, and parathyroid adenoma 1 , 2 . MEN type 2B (MEN-2B) is characterized by medullary thyroid carcinoma, pheochromocytoma, mucosal ganglioneuroma, and a marfanoid habitu...

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Veröffentlicht in:The New England journal of medicine 1994-09, Vol.331 (13), p.828-835
Hauptverfasser: Lips, Cornelis, Landsvater, Rudy M, Hoppener, Jo, Geerdink, Rolf A, Blijham, Geert, van Veen, Joke M. Jansen-Schillhorn, van Gils, Adriaan, de Wit, Mireille J, Zewald, Richard A, Berends, Marianne, Beemer, Frits A, Brouwers-Smalbraak, Joanneke, Jansen, Rumo, van Amstel, Hans Kristian Ploos, van Vroonhoven, Theo, Vroom, Thea M
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Sprache:eng
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Zusammenfassung:Multiple endocrine neoplasia type 2A (MEN-2A) is an inherited disease characterized by medullary thyroid carcinoma, pheochromocytoma, and parathyroid adenoma 1 , 2 . MEN type 2B (MEN-2B) is characterized by medullary thyroid carcinoma, pheochromocytoma, mucosal ganglioneuroma, and a marfanoid habitus 3 , 4 . In familial medullary thyroid carcinoma, medullary thyroid carcinoma occurs without the other abnormalities 5 – 7 . The pattern of inheritance of all these syndromes is autosomal dominant, with a high degree of penetrance and variable expression. Medullary thyroid carcinoma originates in calcitonin-producing cells (C cells) of the thyroid gland 8 . Patients with this condition or its precursor, C-cell hyperplasia, have supranormal . . .
ISSN:0028-4793
1533-4406
DOI:10.1056/NEJM199409293311302