PMID- 14685672
OWN - NLM
STAT- MEDLINE
DCOM- 20040319
LR  - 20091119
IS  - 0723-5003 (Print)
IS  - 0723-5003 (Linking)
VI  - 98
IP  - 12
DP  - 2003 Dec 15
TI  - [Clinical genetics of neuroendocrine tumors].
PG  - 712-6
AB  - Neuroendocrine tumors (NETs) are a heterogeneous group of benign and malignant 
      neoplasias, detectable in the context of hereditary tumor syndromes in up to 30% 
      of cases. The pathogenic understanding of NETs has increased considerably during 
      the last decade, mainly due to the identification of underlying genetic defects 
      and the availability of genetically modified animal models. These developments 
      are reflected in a revised WHO classification of gastrointestinal NETs. In 
      contrast to a variety of rare neuroendocrine tumor syndromes, multiple endocrine 
      neoplasia syndrome type 1 (MEN1) and type 2 (MEN2) play clinically significant 
      roles due to their common incidence. MEN1 and MEN2 are classic autosomal-dominant 
      familial tumor diseases with a high penetrance and variable clinical expression, 
      caused by germ line mutations of the MEN1 tumor suppressor gene and the RET 
      protooncogene, respectively. The clinical management of patients with NETs has 
      changed significantly after the introduction of clinical genetic screening. The 
      detection of MEN1 mutations allows for risk-adapted treatment and follow-up. RET 
      gene analysis can identify individuals with a very high risk to develop familial 
      medullary cancer (MEN2), who may be successfully treated by prophylactic 
      thyroidectomy. NETs thus represent a paradigmatic example of the successful link 
      between basic genetic science and clinical care in molecular medicine.
FAU - Karges, Wolfram
AU  - Karges W
AD  - Abteilung Innere Medizin 1, Universitatsklinikum, Ulm. 
      wolfram.karges@medizin.uni-ulm.de
FAU - Adler, Guido
AU  - Adler G
LA  - ger
PT  - Comparative Study
PT  - English Abstract
PT  - Journal Article
TT  - Klinische Genetik neuroendokriner Tumoren.
PL  - Germany
TA  - Med Klin (Munich)
JT  - Medizinische Klinik (Munich, Germany : 1983)
JID - 8303501
RN  - 0 (DNA, Complementary)
RN  - 0 (Proto-Oncogene Proteins)
RN  - EC 2.7.10.1 (Receptor Protein-Tyrosine Kinases)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - DNA, Complementary/genetics
MH  - Female
MH  - Gastrointestinal Neoplasms/classification/diagnosis/genetics
MH  - Genes, Tumor Suppressor
MH  - Genetic Techniques
MH  - *Genetic Testing
MH  - Germ Cells
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia/diagnosis/*genetics
MH  - Multiple Endocrine Neoplasia Type 1/diagnosis/genetics
MH  - Multiple Endocrine Neoplasia Type 2a/diagnosis/genetics
MH  - Multiple Endocrine Neoplasia Type 2b/diagnosis/genetics
MH  - Mutation
MH  - Neuroendocrine Tumors/classification/diagnosis/*genetics
MH  - Proto-Oncogene Proteins/genetics
MH  - Receptor Protein-Tyrosine Kinases/genetics
MH  - Risk Factors
MH  - World Health Organization
EDAT- 2003/12/20 05:00
MHDA- 2004/03/20 05:00
CRDT- 2003/12/20 05:00
PHST- 2003/10/10 00:00 [received]
PHST- 2003/10/10 00:00 [accepted]
PHST- 2003/12/20 05:00 [pubmed]
PHST- 2004/03/20 05:00 [medline]
PHST- 2003/12/20 05:00 [entrez]
AID - 10.1007/s00063-003-1317-2 [doi]
PST - ppublish
SO  - Med Klin (Munich). 2003 Dec 15;98(12):712-6. doi: 10.1007/s00063-003-1317-2.