PMID- 20669560
OWN - NLM
STAT- MEDLINE
DCOM- 20100915
LR  - 20100730
IS  - 0001-4079 (Print)
IS  - 0001-4079 (Linking)
VI  - 194
IP  - 1
DP  - 2010 Jan
TI  - [Clinical characteristics of multiple endocrine neoplasia].
PG  - 69-78; discussion 78-9
AB  - 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.
FAU - Conte-Devolx, Bernard
AU  - Conte-Devolx B
AD  - Endocrinologie, Diabete, Maladies Metaboliques, Hopital de la Timone, 13385 
      Marseille cedex 05. bernard.conte-devolx@ap-hm.fr
FAU - Niccoli, Patricia
AU  - Niccoli P
CN  - Groupe d'etude des Tumeurs Endocrines
LA  - fre
PT  - English Abstract
PT  - Journal Article
PT  - Review
TT  - Seance dediee aux tumeurs endocrines. Neoplasies endocriniennes multiples, 
      aspects cliniques.
PL  - Netherlands
TA  - Bull Acad Natl Med
JT  - Bulletin de l'Academie nationale de medecine
JID - 7503383
SB  - IM
MH  - Adrenal Gland Neoplasms/genetics/surgery
MH  - Adrenalectomy
MH  - Carcinoma, Medullary/genetics/surgery
MH  - Digestive System Neoplasms/genetics/surgery
MH  - Early Diagnosis
MH  - Genes, Tumor Suppressor
MH  - Genetic Testing
MH  - Humans
MH  - *Multiple Endocrine Neoplasia/diagnosis/epidemiology/genetics/prevention & 
      control/surgery
MH  - Pheochromocytoma/genetics/surgery
MH  - Thyroid Neoplasms/genetics/surgery
MH  - Thyroidectomy
RF  - 29
EDAT- 2010/07/31 06:00
MHDA- 2010/09/17 06:00
CRDT- 2010/07/31 06:00
PHST- 2010/07/31 06:00 [entrez]
PHST- 2010/07/31 06:00 [pubmed]
PHST- 2010/09/17 06:00 [medline]
PST - ppublish
SO  - Bull Acad Natl Med. 2010 Jan;194(1):69-78; discussion 78-9.