Multiple Endocrine Neoplasia Type 2
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Open Access
- 1 April 2003
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Surgery
- Vol. 138 (4) , 409-416
- https://doi.org/10.1001/archsurg.138.4.409
Abstract
MULTIPLE endocrine neoplasia type 2 (MEN 2) is an autosomal dominant syndrome that is characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism (HPT). MEN 2 is divided into subtypes depending on the presence or absence of tissue-specific tumors and phenotypic characteristics, and the number of affected family members (Table 1).1 Rare variants of MEN 2 have been associated with Hirschsprung disease (HSCR) and cutaneous lichen amyloidosis (CLA).2,3 Medullary thyroid carcinoma, which has a penetrance of greater than 90% and is usually the first manifestation of MEN 2,4,5 has been confirmed in thyroidectomy specimens from patients as young as 17 months.6 The prognosis of MEN 2 is related to the aggressiveness of the MTC, which can develop early lymph node metastases. These metastases have been found in patients as young as 3 years.7 Germline mutations in the RET proto-oncogene cause MEN 2.8,9 Analysis of the RET mutation status of at-risk patients allows for effective screening and improved clinical management.10Keywords
This publication has 31 references indexed in Scilit:
- The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysisPublished by American Medical Association (AMA) ,1996
- APPLICATION OF GENETIC SCREENING INFORMATION TO THE MANAGEMENT OF MEDULLARY THYROID CARCINOMA AND MULTIPLE ENDOCRINE NEOPLASIA TYPE 2Endocrinology and Metabolism Clinics of North America, 1996
- Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung diseaseHuman Molecular Genetics, 1995
- Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung diseaseHuman Molecular Genetics, 1995
- Mutations in the RET proto-oncogene are associated with MEN 2A and FMTCHuman Molecular Genetics, 1993
- Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2ANature, 1993
- PTC is a novel rearranged form of the ret proto-oncogene and is frequently detected in vivo in human thyroid papillary carcinomasPublished by Elsevier ,1990
- Multiple Endocrine Neoplasia Type 2a Associated with Cutaneous Lichen AmyloidosisAnnals of Internal Medicine, 1989
- RISK ESTIMATION AND SCREENING IN FAMILIES OF PATIENTS WITH MEDULLARY THYROID CARCINOMAThe Lancet, 1988
- Activation of a novel human transforming gene, ret, by DNA rearrangementCell, 1985