Searchable abstracts of presentations at key conferences in endocrinology

ea0014p125 | (1) | ECE2007

A newly detected mutation of the RET proto-oncogene in exon 8 as a cause of multiple endocrine neoplasia Type 2A

Bethanis S. , Palouka Th. , Avgoustis Ch. , Koutsodontis G. , Bei T. , Yannoukakos D. , Tsagarakis S.

Multiple endocrine neoplasia type2A (MEN 2A) is a syndrome of familial cancers characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and hyperplasia of the parathyroid glands. RET protooncogene is the responsible gene for MEN 2A; in more than 96% of MEN 2A families mutations in RET exon 10 or exon 11 are identified. Herein we report a MEN 2A case affected by a mutation (Gly533Cys) in exon 8. A 66-yr-old male patient was referred to our Department due ...

ea0011p512 | Endocrine tumours and neoplasia | ECE2006

Mutation at codon 804 detected in a Greek kindred by screening of the RET gene in patients with medullary thyroid carcinoma

Mytakidis N , Vassiliou E , Liakos V , Papagrigoriou L , Hadzimarkou F , Kostoglou-Athanasiou I , Koutsodontis G , Ladopoulou A , Bei T , Yannoukakos D , Kaldrymidis P

Medullary Thyroid Carcinoma (MTC) is a rare cancer that arises from the thyroid C-cells and occurs as sporadic in 75% of the cases. In 25% of MTC cases, mutations of the RET proto-oncogene are responsible for the development of three dominantly inherited neoplastic disorders including multiple endocrine neoplasia (MEN) 2A, MEN 2B and familial medullary thyroid carcinoma (FMTC). Since 2–8% of MTC cases considered sporadic conceal germline mutations, direct analysis of the ...

ea0011p513 | Endocrine tumours and neoplasia | ECE2006

A rare RET gene mutation is found in two apparently unrelated Greek kindreds with familial medullary thyroid carcinoma

Mytakidis N , Zachariou M , Anagnostopoulos T , Vassiliou E , Thomas D , Tertipi A , Rampias T , Konstantopoulou I , Natsis P , Yannoukakos D , Kaldrymidis P

Familial medullary thyroid carcinoma (FMTC) is caused by germ-line mutations in the RET proto-oncogene. These mutations concern mainly exons 10 and 11, whereas mutations in exons 13–16 are rare. Mutations in exon 8 have been reported in the literature only twice.We performed direct analysis of exons 7–19 and 21 of RET gene in two apparently unrelated Greek index-patients with FMTC, presenting negative initial screening for mutations in exons 10...