Endocrine Abstracts

Paediatric thyroid cancer is rare but belongs to the most frequent malignancies in children and its incidence increases. The difference from adult disease subsists in good curability despite of quicker proliferation and earlier development of metastases. Influence of previous radioactivity exposure in the pathogenesis has been proven.For the optimal uptake of radioiodine 131I in the post-operative thyroid remnants it’s necessary to achiev...

A basic tool of the thyroidal cancer treatment is the total thyroidectomy. Immediately after the thyroidectomy, the patients receive a thyroxin. In the case of positive histology after lobectomy, we first indicate the total thyroidectomy. If the tumor is larger than 1 cm or if is a multifocal one, we indicate the ablation of the remnant with I131.Usually, the differentiated thyroid cancer is non-aggressive and we proceed with a standard way of...

Purpose: Familial medullary thyroid carcinoma (FMTC) is an autosomal dominant inherited disease, characterized by germ-line mutations in the RET proto-oncogene, mainly in exons 10 and 11, but also in exons 13, 14 and 15. Activating germ-line mutations in the RET proto-oncogene cause the development of familial medullary thyroid carcinoma (FMTC) or medullary thyroid carcinoma (MTC) as a part of multiple endocrine neoplasia type 2 syndrome (MEN2).Me...

McCune-Albright syndrome (MAS) is a rare mosaic disorder caused by a postzygotic activating mutation in the GNAS gene encoding the G protein alpha subunit. Although clinical manifestations may be heterogeneous, MAS is often characterized by the triad of fibrous dysplasia, café-au-lait skin pigmentations and hyperfunctioning endocrinopathy. We report here a 58-year old woman who presented for evaluation of hyperthyroidism, associated with nodular thyroid disease and elevat...

Background and aims: Medullary thyroid carcinoma (MTC) occurs as a sporadic or less commonly as an inherited form which comprises multiple endocrine neoplasia (MEN) type 2A and 2B and familial MTC. Whereas over 95% of patients with MEN2 syndrome have a germline missense mutation in the RET proto-oncogene, the detection rate of germline mutations in FMTC patients is lower as well as the detection rate of somatic mutations in sporadic MTC tumor tissues. In this context, s...

We have collected an extensive record of more than 8000 patients with a thyroid carcinoma over the years 1946–2005. In all cases, the diagnosis was done by the histology examination carried by a pathologist. Those records were classified by their dimension and the extent of the thyroid gland. This classification is used as a basis for the treatment decision. Tumors of the bigger size needs radiotherapy with I 131 whereas the smaller tumors are subject of observation and r...

Objectives: Although, almost all patients with inherited medullary thyroid carcinomas (MTC) harboured RET proto-oncogene mutation, in patients with sporadic MTC, mutations in RET are detected only in half of cases. Thus still unknown genetic causes are responsible for half of sporadic MTC and it is necessary to search for another mutations.Methods: DNAs from fresh frozen thyroid tissues of 27 sporadic MTC were extracted. The next-genera...

Thyroid cancer in children and adolescents is a rare disease but with an increasing incidence. As in adults, the most prevalent type is papillary thyroid carcinoma (PTC). Our aim was to describe the clinical and genetic comparison between pediatric and adult PTC. We analyzed the cohorts of 73 pediatric PTC (5-18 years, female to male ratio 2.3:1, 10 patients <10 years) and 460 adult PTC patients. DNA and RNA were extracted from cancer tissue samples. DNA was used for seque...

Introduction: Hereditary medullary thyroid carcinoma (MTC) is associated with only one major cause – germline mutations in the RET proto-oncogene. The most of tested families with MTC is related to specific RET mutation, however, very small number of families left unresolved without the causing inherited mutation. New techniques of next generation sequencing give hope in finding the new candidate genes that could be involved in the pathogenesis of these ...

RET proto-oncogene is activated in the development of PTC via RET/PTC rearrangements. Single nucleotide polymorphisms (SNPs) of the gene are associated with PTC in some studies. We investigated possible association of SNPs with RET/PTC in Czech patients. We analyzed 234 patients with PTC (101 fresh frozen thyroid samples, 133 paraffin-embedded formalin-fixed samples) and 172 controls. RNA from frozen samples was reversely transcribed to cDNA. RET/PTC</i...