title: [Thyroid carcinomas and Hirschsprung's disease--10-year experience with molecular genetic testing of the RET proto-oncogene].
abstract: In the last ten years, research has confirmed the role of the RET proto-oncogene in the pathogenesis of thyroid cancer such as medullary thyroid carcinoma (MTC) and papillary thyroid carcinoma (PTC), multiple endocrine neoplasia type 2 (MEN 2) and Hirschsprung's disease that can be associated with MTC or MEN 2. Through the use of molecular genetic testing, we are able to detect gene mutations and the course the disease might take can be predicted, thus enabling us to cure mutation carriers among the high-risk patients can at a very early, clinically asymptomatic stage of the disease; prophylactic total thyreoidectomy in said patients is recommended. At this juncture, there is extensive on-going research on the physiological role played by the RET proto-oncogene on the normal proliferation, differentiation and survival of the cell. Thanks to the new findings there are now possibilities of the theurapeutic use of gene therapy on an RET signaling cascade level in near future.
authors.affiliation: Endokrinologický ustav, Praha. bbendlova@endo.cz
authors.forename: B
authors.initials: B
authors.lastname: Bendlová
authors.forename: S
authors.initials: S
authors.lastname: Dvoráková
authors.forename: E
authors.initials: E
authors.lastname: Václavíková
authors.forename: V
authors.initials: V
authors.lastname: Sýkorová
authors.forename: P
authors.initials: P
authors.lastname: Vlcek
authors.forename: R
authors.initials: R
authors.lastname: Skába
mesh_terms: D018276:Carcinoma, Medullary / Q000175:diagnosis / Q000235:genetics; D002291:Carcinoma, Papillary / Q000175:diagnosis / Q000235:genetics; D006627:Hirschsprung Disease / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics* / Q000502:physiology; D015398:Signal Transduction; D013964:Thyroid Neoplasms / Q000175:diagnosis* / Q000235:genetics
chemical_list: C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret