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  • Mutacije v RET-onkogenu pri slovenskih bolnikih z multiplo endokrinopatijo tipa 2 : korelacija med genotipom in fenotipom
    Caserman, Simon
    The multiple endocrine neoplasia type 2 (MEN 2) syndromes are dominantly inherited syndromes of tumor formation and disordered development that involvefour tissues: the "C"-cells of thyroid, the ... adrenal medulla, the parathyroid and the intestinal autonomic nerve plexuses. The inheritance has been estimated to be about 1/30000 of the general population. In 1961 Sipple described the high incidence of the carcinoma of the thyroid in patients with pheochromocytoma. Medulliary thyroid carcinoma (MTC) was first described by Hazard in 1959. Subsequently it was recognized that carcinoma of the thyroid that occurred with pheochromocytoma was always MTC. In 1968 Steiner et al. introduced term MEN 2 to distinguish new syndrome from MEN 1 where tumor of parathyroid, pituitary and endocrine pancreatic tumor emerge. There are three distinct clinical varieties of MEN 2, namely MEN 2A, MEN 2B and familial medullary thyroid carcinoma (FMTC). MEN 2A accounts for 69% of cases, while MEN 2B and FMTC for 9% and 22% of cases of hereditary MTC respectively. About 95% of individuals that carry the mutation that predispose for MEN 2A develop MTC, 50% develop pheochromocytoma and about 10-30% develop parathyroid disease. In patients that carry MEN 2B specific mutations, develop MTC and pheochromocytoma at approximately same percentage of cases, while parathyroid disease appears uncommon. MTC emerge at younger age an tends to be more aggresive than observed in MEN 2A cases. Additional to endocrinopathies, several muscular and sceletal abnormalities are present. Disorganized peripheral nerve tissue gives rise to neuromas of tongue and lips. Along the intestinum, the number of entrinsic autonomic ganglia is increased, while hiperplasia of extrinsic autonomic nerve fibers in the wall of the intestine leads to disturbance of intestinal motility. (Abstract truncated at 2000 characters)
    Vrsta gradiva - magistrsko delo
    Založništvo in izdelava - Ljubljana : [S. Caserman], 2000
    Jezik - slovenski
    COBISS.SI-ID - 14049753

Nobena knjižnica v sistemu COBISS.SI nima izvoda tega gradiva.
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