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

• Published in: The New England journal of medicine Vol. 331; no. 13; pp. 828 - 835
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 29.09.1994
• Subjects: Abdomen; Adenoma; Adolescent; Adrenal Gland Neoplasms - diagnosis; Adrenal Gland Neoplasms - genetics; Adult; Antigens; Base Sequence; Biological and medical sciences; Calcitonin; Calcitonin - blood; Calcium (urinary); Catecholamines; Child; Child, Preschool; Deoxyribonucleic acid; DNA; DNA Mutational Analysis; DNA Probes; Endocrinopathies; Excretion; Families & family life; Family medical history; Female; Genetic Carrier Screening - methods; Genetic Linkage; Genetic Markers; Hospitals; Humans; Hyperplasia; Internal medicine; Linkage analysis; Male; Malignant tumors; Mass Screening; Medical sciences; Medical screening; MEN2A gene; Metabolites; Middle Aged; Missense mutation; Molecular Sequence Data; Multiple endocrine neoplasia; Multiple Endocrine Neoplasia - diagnosis; Multiple Endocrine Neoplasia - genetics; Multiple Endocrine Neoplasia - pathology; Mutation; Neuroendocrine tumors; NMR; Nuclear magnetic resonance; Parathyroid; Pathology; Pedigree; Pheochromocytoma; Pheochromocytoma - diagnosis; Pheochromocytoma - genetics; Phosphatase; Plasma; Proto-Oncogenes; Ret protein; Rodents; Therapy; Thyroid cancer; Thyroid carcinoma; Thyroid gland; Thyroid Neoplasms - diagnosis; Thyroid Neoplasms - genetics; Thyroid Neoplasms - pathology; Thyroid. Thyroid axis (diseases); Thyroidectomy; Endocrinopathy; Human; Biochemical analysis; Linkage; Restriction fragment length polymorphism; Family study; Genetics; Diagnosis; Molecular biology; Southern blotting; Multiple endocrine neoplasia type II; Comparative study
• ISSN: 0028-4793; 1533-4406
• DOI: 10.1056/NEJM199409293311302

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 . . .