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[Clinical genetics of neuroendocrine tumors].
Med Klin (Munich). 2003 Dec 15; 98(12):712-6.MK

Abstract

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.

Authors+Show Affiliations

Abteilung Innere Medizin 1, Universitätsklinikum, Ulm. wolfram.karges@medizin.uni-ulm.deNo affiliation info available

Pub Type(s)

Comparative Study
English Abstract
Journal Article

Language

ger

PubMed ID

14685672

Citation

Karges, Wolfram, and Guido Adler. "[Clinical Genetics of Neuroendocrine Tumors]." Medizinische Klinik (Munich, Germany : 1983), vol. 98, no. 12, 2003, pp. 712-6.
Karges W, Adler G. [Clinical genetics of neuroendocrine tumors]. Med Klin (Munich). 2003;98(12):712-6.
Karges, W., & Adler, G. (2003). [Clinical genetics of neuroendocrine tumors]. Medizinische Klinik (Munich, Germany : 1983), 98(12), 712-6.
Karges W, Adler G. [Clinical Genetics of Neuroendocrine Tumors]. Med Klin (Munich). 2003 Dec 15;98(12):712-6. PubMed PMID: 14685672.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Clinical genetics of neuroendocrine tumors]. AU - Karges,Wolfram, AU - Adler,Guido, PY - 2003/10/10/received PY - 2003/10/10/accepted PY - 2003/12/20/pubmed PY - 2004/3/20/medline PY - 2003/12/20/entrez SP - 712 EP - 6 JF - Medizinische Klinik (Munich, Germany : 1983) JO - Med Klin (Munich) VL - 98 IS - 12 N2 - 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. SN - 0723-5003 UR - https://www.unboundmedicine.com/medline/citation/14685672/[Clinical_genetics_of_neuroendocrine_tumors]_ L2 - https://dx.doi.org/10.1007/s00063-003-1317-2 DB - PRIME DP - Unbound Medicine ER -