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Multiple endocrine neoplasia type 2.
Orphanet J Rare Dis. 2006 Nov 14; 1:45.OJ

Abstract

Multiple Endocrine Neoplasia Type 2 (MEN2) is a rare hereditary complex disorder characterized by the presence of medullary thyroid carcinoma (MTC), unilateral or bilateral pheochromocytoma (PHEO) and other hyperplasia and/or neoplasia of different endocrine tissues within a single patient. MEN2 has been reported in approximately 500 to 1000 families worldwide and the prevalence has been estimated at approximately 1:30,000. Two different forms, sporadic and familial, have been described for MEN2. Sporadic form is represented by a case with two of the principal MEN2-related endocrine tumors. The familial form, which is more frequent and with an autosomal pattern of inheritance, consists of a MEN2 case with at least one first degree relative showing one of the characteristic endocrine tumors. Familial medullary thyroid carcinoma (FMTC) is a subtype of MEN2 in which the affected individuals develop only medullary thyroid carcinoma, without other clinical manifestations of MEN2. Predisposition to MEN2 is caused by germline activating mutations of the c-RET proto-oncogene on chromosome 10q11.2. The RET gene encodes a single-pass transmembrane tyrosine kinase that is the receptor for glial-derived neurotrophic growth factors. The combination of clinical and genetic investigations, together with the improved understanding of the molecular and clinical genetics of the syndrome, helps the diagnosis and treatment of patients. Currently, DNA testing makes possible the early detection of asymptomatic gene carriers, allowing to identify and treat the neoplastic lesions at an earlier stage. In particular, the identification of a strong genotype-phenotype correlation in MEN2 syndrome may enable a more individualized treatment for the patients, improving their quality of life. At present, surgical treatment offers the only chance of cure and therefore, early clinical and genetic detection and prophylactic surgery in subjects at risk are the main therapeutic goal.

Authors+Show Affiliations

Regional Center for Hereditary Endocrine Tumors, Department of Internal Medicine, University of Florence, Florence, Italy. f.marini@dmi.unifi.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo 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

17105651

Citation

Marini, Francesca, et al. "Multiple Endocrine Neoplasia Type 2." Orphanet Journal of Rare Diseases, vol. 1, 2006, p. 45.
Marini F, Falchetti A, Del Monte F, et al. Multiple endocrine neoplasia type 2. Orphanet J Rare Dis. 2006;1:45.
Marini, F., Falchetti, A., Del Monte, F., Carbonell Sala, S., Tognarini, I., Luzi, E., & Brandi, M. L. (2006). Multiple endocrine neoplasia type 2. Orphanet Journal of Rare Diseases, 1, 45.
Marini F, et al. Multiple Endocrine Neoplasia Type 2. Orphanet J Rare Dis. 2006 Nov 14;1:45. PubMed PMID: 17105651.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Multiple endocrine neoplasia type 2. AU - Marini,Francesca, AU - Falchetti,Alberto, AU - Del Monte,Francesca, AU - Carbonell Sala,Silvia, AU - Tognarini,Isabella, AU - Luzi,Ettore, AU - Brandi,Maria Luisa, Y1 - 2006/11/14/ PY - 2006/10/06/received PY - 2006/11/14/accepted PY - 2006/11/16/pubmed PY - 2007/10/3/medline PY - 2006/11/16/entrez SP - 45 EP - 45 JF - Orphanet journal of rare diseases JO - Orphanet J Rare Dis VL - 1 N2 - Multiple Endocrine Neoplasia Type 2 (MEN2) is a rare hereditary complex disorder characterized by the presence of medullary thyroid carcinoma (MTC), unilateral or bilateral pheochromocytoma (PHEO) and other hyperplasia and/or neoplasia of different endocrine tissues within a single patient. MEN2 has been reported in approximately 500 to 1000 families worldwide and the prevalence has been estimated at approximately 1:30,000. Two different forms, sporadic and familial, have been described for MEN2. Sporadic form is represented by a case with two of the principal MEN2-related endocrine tumors. The familial form, which is more frequent and with an autosomal pattern of inheritance, consists of a MEN2 case with at least one first degree relative showing one of the characteristic endocrine tumors. Familial medullary thyroid carcinoma (FMTC) is a subtype of MEN2 in which the affected individuals develop only medullary thyroid carcinoma, without other clinical manifestations of MEN2. Predisposition to MEN2 is caused by germline activating mutations of the c-RET proto-oncogene on chromosome 10q11.2. The RET gene encodes a single-pass transmembrane tyrosine kinase that is the receptor for glial-derived neurotrophic growth factors. The combination of clinical and genetic investigations, together with the improved understanding of the molecular and clinical genetics of the syndrome, helps the diagnosis and treatment of patients. Currently, DNA testing makes possible the early detection of asymptomatic gene carriers, allowing to identify and treat the neoplastic lesions at an earlier stage. In particular, the identification of a strong genotype-phenotype correlation in MEN2 syndrome may enable a more individualized treatment for the patients, improving their quality of life. At present, surgical treatment offers the only chance of cure and therefore, early clinical and genetic detection and prophylactic surgery in subjects at risk are the main therapeutic goal. SN - 1750-1172 UR - https://www.unboundmedicine.com/medline/citation/17105651/Multiple_endocrine_neoplasia_type_2_ L2 - https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-45 DB - PRIME DP - Unbound Medicine ER -