PMID- 22388921
OWN - NLM
STAT- MEDLINE
DCOM- 20120806
LR  - 20211203
IS  - 1432-1289 (Electronic)
IS  - 0020-9554 (Linking)
VI  - 53
IP  - 4
DP  - 2012 Apr
TI  - [Hereditary neuroendrocrine tumors. Multiple endocrine neoplasia type 1 and 2].
PG  - 400-7
LID - 10.1007/s00108-011-2989-y [doi]
AB  - Multiple endocrine neoplasia type 1 (MEN-1) is an autosomal-dominant hereditary 
      disease characterized by the occurrence of tumors of the parathyroids, duodenum 
      and/or pancreas, and anterior pituitary. The syndrome is caused by germline 
      mutations of the MEN1 tumor suppressor gene. The identification of the causative 
      mutations is of paramount importance for the long-term management of affected 
      individuals and their relatives. Multiple endocrine neoplasia type 2 (MEN2) is 
      less frequent than MEN1 and represents a cancer syndrome caused by 
      autosomal-dominant inherited mutations of the RET proto-oncogene, and displays a 
      genotype-phenotype correlation of remarkable clinical relevance. Major components 
      of MEN-2 comprise medullary thyroid carcinoma (MTC), pheochromocytoma, and 
      primary hyperparathyroidism. Since 25-30% of patients with MTC display a 
      hereditary background, genetic testing is indicated once MTC is diagnosed. 
      Occurrence of MTC can be avoided by prophylactic thyroidectomy in early childhood 
      in gene carriers. Early diagnosis and therapy of simultaneous pheochromocytoma 
      avoids the development of complications caused by acute or chronic hypertension.
FAU - Rinke, A
AU  - Rinke A
AD  - Klinik fur Gastroenterologie, Stoffwechsel, Endokrinologie und Infektiologie, 
      Philipps-Universitat Marburg.
FAU - Galan, S R
AU  - Galan SR
FAU - Fendrich, V
AU  - Fendrich V
FAU - Kann, P H
AU  - Kann PH
FAU - Bartsch, D K
AU  - Bartsch DK
FAU - Gress, T M
AU  - Gress TM
LA  - ger
PT  - Journal Article
TT  - Hereditare neuroendokrine Tumoren. Multiple endokrine Neoplasien Typ 1 und 2.
PL  - Germany
TA  - Internist (Berl)
JT  - Der Internist
JID - 0264620
SB  - IM
MH  - Genetic Predisposition to Disease/*genetics/*prevention & control
MH  - Genetic Testing/*methods
MH  - Humans
MH  - Multiple Endocrine Neoplasia Type 1/*diagnosis/*genetics/therapy
MH  - Multiple Endocrine Neoplasia Type 2a/*diagnosis/*genetics/therapy
MH  - Polymorphism, Single Nucleotide/genetics
MH  - Proto-Oncogene Mas
EDAT- 2012/03/06 06:00
MHDA- 2012/08/07 06:00
CRDT- 2012/03/06 06:00
PHST- 2012/03/06 06:00 [entrez]
PHST- 2012/03/06 06:00 [pubmed]
PHST- 2012/08/07 06:00 [medline]
AID - 10.1007/s00108-011-2989-y [doi]
PST - ppublish
SO  - Internist (Berl). 2012 Apr;53(4):400-7. doi: 10.1007/s00108-011-2989-y.