Vnitr Lek 2006, 52(10):926-934

Thyroid carcinomas and Hirschsprung's disease - 10-year experience with molecular genetic testing of the RET proto-oncogene

B. Bendlová1,*, Š. Dvořáková1, E. Václavíková1, V. Sýkorová1, P. Vlček2, R. Škába3
1 Endokrinologický ústav, Praha, ředitel doc. MUDr. Vojtěch Hainer, CSc.
2 Klinika nukleární medicíny a endokrinologie 2. lékařské fakulty UK a FN Motol, Praha, přednosta doc. MUDr. Petr Vlček, CSc.
3 Klinika dětské chirurgie 2. lékařské fakulty UK a FN Motol, Praha, přednosta prof. MUDr. Jiří Šnajdauf, DrSc.

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.

Keywords: medullary thyroid carcinoma; papillary thyroid carcinoma; Hirschsprung's disease; molecular genetic testing; RET proto-oncogene; gene therapy

Received: June 20, 2006; Published: October 1, 2006  Show citation

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Bendlová B, Dvořáková Š, Václavíková E, Sýkorová V, Vlček P, Škába R. Thyroid carcinomas and Hirschsprung's disease - 10-year experience with molecular genetic testing of the RET proto-oncogene. Vnitr Lek. 2006;52(10):926-934.
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