INTRODUCTION High prevalence of RET p.Gly533Cys (c.1597G > T) has been found in familial MTC in Greece (exon 8 fMTC). We studied their origin and compared clinical characteristics with non-exon 8 fMTC. METHODS 102 fMTC (FMTC and MEN2A) patients (31.4% males) were followed for 2.9-37 years (median 6 years). Fifty-one carried the RET exon 8 mutation; the remaining were non-exon 8 fMTC (exons 10...

BACKGROUND The hereditary form of medullary thyroid carcinoma may occur isolated as a familial medullary thyroid carcinoma (FMTC) or as part of Multiple Endocrine Neoplasia 2A (MEN2A) and 2B (MEN2B). MEN2B is a rare syndrome, its phenotype may usually, but not always, be noted by the physician. In the infant none of the MEN2B characteristics are present, except by early gastrointestinal dysfunc...

Medullary thyroid cancer (MTC) occurs in less than 1% of thyroid nodules and accounts for 5-10% of thyroid malignancies. It is a well-differentiated neuroendocrine carcinoma arising from parafollicular calcitonin-producing cells (C-cells) of the thyroid gland and is associated with elevated serum calcitonin levels. Among well-differentiated thyroid carcinomas, MTC is the most aggressive, with s...

Multiple endocrine neoplasia (MEN) is characterized by the occurrence of tumors involving two or more endocrine glands within a single patient. Four major forms of MEN, which are autosomal dominant disorders, are recognized and referred to as: MEN type 1 (MEN1), due to menin mutations; MEN2 (previously MEN2A) due to mutations of a tyrosine kinase receptor encoded by the rearranged during transf...

The present study identified the clinical features of the largest multiple endocrine neoplasia type 2 (MEN2) A pedigree from China, with a novel double missense rearranged during transfection (RET) mutation (C634Y/D707E). To the best of our knowledge, the D707E mutation has not been identified to date. In the present study, a total of 101 family members who originated from a large pedigree (134...

1. Review of the literature ..........................................................................................1 1.1. Brain dopaminergic system ..................................................................................... 1 1.1.1. Development of the midbrain dopaminergic system ............................ 2 1.2. Parkinson’s disease...................................................