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 |
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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 . . . |
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ISSN: | 0028-4793 1533-4406 |
DOI: | 10.1056/NEJM199409293311302 |