Clinical Screening as Compared with DNA Analysis in Families with Multiple Endocrine Neoplasia Type 2A
Open Access
- 29 September 1994
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 331 (13), 828-835
- https://doi.org/10.1056/nejm199409293311302
Abstract
Multiple endocrine neoplasia type 2A (MEN-2A) is characterized by medullary thyroid carcinoma in combination with pheochromocytoma and sometimes parathyroid adenoma. Missense mutations in the RET proto-oncogene are associated with MEN-2A. Their detection by DNA analysis allows the identification of carriers of the gene, in whom the risk of medullary thyroid carcinoma is 100 percent. We compared the reliability of biochemical tests with that of DNA analysis in identifying carriers of the MEN2A gene.Keywords
This publication has 28 references indexed in Scilit:
- Familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2B map to the same region of chromosome 10 as multiple endocrine neoplasia type 2AGenomics, 1991
- The Clinical Outcome of Prospective Screening for Multiple Endocrine Neoplasia Type 2ANew England Journal of Medicine, 1988
- Familial medullary thyroid carcinoma without associated endocrinopathies: A distinct clinical entityBritish Journal of Surgery, 1986
- Mucosal ganglioneuromatosis, medullary thyroid carcinoma, and pheochromocytoma: Multiple endocrine neoplasia, type 2bOral Surgery, Oral Medicine, Oral Pathology, 1976
- A Comparison of Pentagastrin Injection and Calcium Infusion as Provocative Agents for the Detection of Medullary Carcinoma of the Thyroid1Journal of Clinical Endocrinology & Metabolism, 1974
- C-Cell Hyperplasia Preceding Medullary Thyroid CarcinomaNew England Journal of Medicine, 1973
- Early Diagnosis of Medullary Carcinoma of the Thyroid Gland by Means of Calcitonin AssayNew England Journal of Medicine, 1971
- STUDY OF A KINDRED WITH PHEOCHROMOCYTOMA, MEDULLARY THYROID CARCINOMA, HYPERPARATHYROIDISM AND GUSHING ʼS DISEASE: MULTIPLE ENDOCRINE NEOPLASIA, TYPE 21Medicine, 1968
- Syndrome of Bilateral Pheochromocytoma, Medullary Thyroid Carcinoma and Multiple NeuromasNew England Journal of Medicine, 1968
- The association of pheochromocytoma with carcinoma of the thyroid glandAmerican Journal Of Medicine, 1961