Avtor/Urednik		Bergant, D; Hočevar, M
Naslov		Medulllary thyroid carcinoma. Genetic screening and prophylactic thyroidectomies
Tip		članek
Vir		Acta Chir Iugosl
Vol. in št.		Letnik 10, št. 3
Leto izdaje		2003
Obseg		str. 121-4
Jezik		eng
Abstrakt		Medullary thyroid cancer is a rare, neuroendocrine, tumor. It arises from parafollicular or C-cells with the ability to produce and secrete different bioactive substances like calcitonin (TC) and CEA (1-5) TC is ideal tumor marker in early diagnosis, in patents' follow up and in evaluation of their treatment. TC determinations after ca/pentagastrine stimulation test give us even more accurate results and the procedure is used for biochemical family screening 6'' MTC occurs as a sporadic tumor or in hereditary settings MEN 2A, MEN 2B and FMCT 3,4,8,9 Germ/line point mutations in RET proto/onkogene are responsible for tumor arise and inheritance of settings. Genetic screening provides information of these RET mutations in family members even before pathologic changes occur. These individuals with MEN 2A, 2B and FMCT characteristic RET mutations are almost certain to acquire MTC (95% penetrance) in their lives and are candidates for preventive total thyroidectomy (TT), with or without central neck dissection (CND). Surgery is stilt the treatment of choice for MTC and only C-cell hyperplasia and early stage of MTC can be cured. Prophylactic thyroid surgery eliminates the possibilitv of MTC but doesn't influence appearance of other diseases (PHEO, HPTH) of MEN 2 syndromes 2,12-18.
Deskriptorji		THYROID NEOPLASMS CARCINOMA, MEDULLARY THYROIDECTOMY POINT MUTATION