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[Clinical characteristics of multiple endocrine neoplasia].
Bull Acad Natl Med. 2010 Jan; 194(1):69-78; discussion 78-9.BA

Abstract

Multiple endocrine neoplasia type 1 (MEN1) and type 2 (MEN2) are autosomal dominant inherited multiglandular diseases with familial and individual age-related penetrance and variable expression. The most frequent endocrine features of MEN1 are parathyroid involvement (> 95%), duodeno-pancreatic endocrine tissue involvement (80%), pituitary adenoma (30%), and adrenal cortex tumors (25%), with no clear syndromic variants. Identification of the germline MEN1 mutation confirms the diagnosis, but there is no phenotype-genotype correlation. All patients with MEN2 have medullary thyroid carcinoma (MTC). The most distinctive MEN2 variants are MEN2A (MTC+pheochromocytoma+hyperparathyroidism), MEN2B (MTC+pheo), and isolated familial MTC (FMTC). The prognosis of MEN2 is linked to the progression of MTC, which depends mainly on the stage at diagnosis and the quality of initial surgical treatment. This emphasizes the need for early diagnosis and management. The specific RET codon mutation correlates with the MEN2 syndromic variant and with the age of onset and aggressiveness of MTC. Consequently, RET mutational status should guide major management decisions, such as whether and when to perform thyroidectomy.

Authors+Show Affiliations

Endocrinologie, Diabète, Maladies Mètaboliques, Hôpital de la Timone, 13385 Marseille cedex 05. bernard.conte-devolx@ap-hm.frNo affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article
Review

Language

fre

PubMed ID

20669560

Citation

Conte-Devolx, Bernard, et al. "[Clinical Characteristics of Multiple Endocrine Neoplasia]." Bulletin De l'Academie Nationale De Medecine, vol. 194, no. 1, 2010, pp. 69-78; discussion 78-9.
Conte-Devolx B, Niccoli P, Groupe d'étude des Tumeurs Endocrines. [Clinical characteristics of multiple endocrine neoplasia]. Bull Acad Natl Med. 2010;194(1):69-78; discussion 78-9.
Conte-Devolx, B., & Niccoli, P. (2010). [Clinical characteristics of multiple endocrine neoplasia]. Bulletin De l'Academie Nationale De Medecine, 194(1), 69-78; discussion 78-9.
Conte-Devolx B, Niccoli P, Groupe d'étude des Tumeurs Endocrines. [Clinical Characteristics of Multiple Endocrine Neoplasia]. Bull Acad Natl Med. 2010;194(1):69-78; discussion 78-9. PubMed PMID: 20669560.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Clinical characteristics of multiple endocrine neoplasia]. AU - Conte-Devolx,Bernard, AU - Niccoli,Patricia, AU - ,, PY - 2010/7/31/entrez PY - 2010/7/31/pubmed PY - 2010/9/17/medline SP - 69-78; discussion 78-9 JF - Bulletin de l'Academie nationale de medecine JO - Bull Acad Natl Med VL - 194 IS - 1 N2 - Multiple endocrine neoplasia type 1 (MEN1) and type 2 (MEN2) are autosomal dominant inherited multiglandular diseases with familial and individual age-related penetrance and variable expression. The most frequent endocrine features of MEN1 are parathyroid involvement (> 95%), duodeno-pancreatic endocrine tissue involvement (80%), pituitary adenoma (30%), and adrenal cortex tumors (25%), with no clear syndromic variants. Identification of the germline MEN1 mutation confirms the diagnosis, but there is no phenotype-genotype correlation. All patients with MEN2 have medullary thyroid carcinoma (MTC). The most distinctive MEN2 variants are MEN2A (MTC+pheochromocytoma+hyperparathyroidism), MEN2B (MTC+pheo), and isolated familial MTC (FMTC). The prognosis of MEN2 is linked to the progression of MTC, which depends mainly on the stage at diagnosis and the quality of initial surgical treatment. This emphasizes the need for early diagnosis and management. The specific RET codon mutation correlates with the MEN2 syndromic variant and with the age of onset and aggressiveness of MTC. Consequently, RET mutational status should guide major management decisions, such as whether and when to perform thyroidectomy. SN - 0001-4079 UR - https://www.unboundmedicine.com/medline/citation/20669560/[Clinical_characteristics_of_multiple_endocrine_neoplasia]_ L2 - http://www.diseaseinfosearch.org/result/4954 DB - PRIME DP - Unbound Medicine ER -