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Impact of RET proto-oncogene analysis on the clinical management of multiple endocrine neoplasia type 2.
Clinics (Sao Paulo). 2006 Feb; 61(1):59-70.C

Abstract

Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant disease characterized by the presence of medullary thyroid carcinoma, primary hyperparathyroidism, and pheochromocytoma. Multiple endocrine neoplasia type 2 is still an underdiagnosed, or late-diagnosed condition in many areas of the world. Since 1993, when the first missense RET proto-oncogene (RET) mutations were reported in MEN2, up to 46 different RET-causing disease mutations have been described. Since a strong genotype-phenotype correlation exists for MEN2, the detection of RET mutations has produced a major impact in early recognition and treatment of MTC and MEN2. Presently, RET mutation analysis should be performed for all MEN2 cases and their at-risk familial relatives. Further, prophylactic total thyroidectomy is indicated in all cases harboring activating gametic RET mutations. In most RET mutation carriers, prophylactic total thyroidectomy is indicated at ages as early as a few months to 4 years of age, promoting longer survival and improvement of quality of life or even definitive cure. We discuss the large impact of RET proto-oncogene analysis on the clinical management of MEN2 and the role of early RET molecular DNA diagnosis in providing clinicians and surgeons with valuable information that enables them to indicate early total thyroidectomy.

Authors+Show Affiliations

Genetic Endocrinology Unit (LIM-25), Internal Medicine Department, São Paulo University Medical School, São Paulo/SP, Brazil.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

16532227

Citation

Toledo, Sergio Pereira de Almeida, et al. "Impact of RET Proto-oncogene Analysis On the Clinical Management of Multiple Endocrine Neoplasia Type 2." Clinics (Sao Paulo, Brazil), vol. 61, no. 1, 2006, pp. 59-70.
Toledo SP, dos Santos MA, Toledo Rde A, et al. Impact of RET proto-oncogene analysis on the clinical management of multiple endocrine neoplasia type 2. Clinics (Sao Paulo). 2006;61(1):59-70.
Toledo, S. P., dos Santos, M. A., Toledo, R. d. e. . A., & Lourenço, D. M. (2006). Impact of RET proto-oncogene analysis on the clinical management of multiple endocrine neoplasia type 2. Clinics (Sao Paulo, Brazil), 61(1), 59-70.
Toledo SP, et al. Impact of RET Proto-oncogene Analysis On the Clinical Management of Multiple Endocrine Neoplasia Type 2. Clinics (Sao Paulo). 2006;61(1):59-70. PubMed PMID: 16532227.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Impact of RET proto-oncogene analysis on the clinical management of multiple endocrine neoplasia type 2. AU - Toledo,Sergio Pereira de Almeida, AU - dos Santos,Marcelo Augusto Cortina Gonçalves, AU - Toledo,Rodrigo de Almeida, AU - Lourenço,Delmar Muniz,Jr Y1 - 2006/03/10/ PY - 2006/3/15/pubmed PY - 2006/10/25/medline PY - 2006/3/15/entrez SP - 59 EP - 70 JF - Clinics (Sao Paulo, Brazil) JO - Clinics (Sao Paulo) VL - 61 IS - 1 N2 - Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant disease characterized by the presence of medullary thyroid carcinoma, primary hyperparathyroidism, and pheochromocytoma. Multiple endocrine neoplasia type 2 is still an underdiagnosed, or late-diagnosed condition in many areas of the world. Since 1993, when the first missense RET proto-oncogene (RET) mutations were reported in MEN2, up to 46 different RET-causing disease mutations have been described. Since a strong genotype-phenotype correlation exists for MEN2, the detection of RET mutations has produced a major impact in early recognition and treatment of MTC and MEN2. Presently, RET mutation analysis should be performed for all MEN2 cases and their at-risk familial relatives. Further, prophylactic total thyroidectomy is indicated in all cases harboring activating gametic RET mutations. In most RET mutation carriers, prophylactic total thyroidectomy is indicated at ages as early as a few months to 4 years of age, promoting longer survival and improvement of quality of life or even definitive cure. We discuss the large impact of RET proto-oncogene analysis on the clinical management of MEN2 and the role of early RET molecular DNA diagnosis in providing clinicians and surgeons with valuable information that enables them to indicate early total thyroidectomy. SN - 1807-5932 UR - https://www.unboundmedicine.com/medline/citation/16532227/Impact_of_RET_proto_oncogene_analysis_on_the_clinical_management_of_multiple_endocrine_neoplasia_type_2_ L2 - https://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322006000100011&lng=en&nrm=iso&tlng=en DB - PRIME DP - Unbound Medicine ER -