Endocrine Abstracts

In this study we describe a new allelic variant of RET, identified in a family with Medullary Thyroid Cancer (MTC) and negative for the classical RET mutations, that causes an Arg982Cys substitution in exon 18.The “in silico” analysis has shown that this variant has a reduced compatibility [score 15] with the normal biological activity of the native protein and could therefore be a transforming mutation.The aim of this wo...

Housekeeping genes (HK) are commonly used as controls for the normalization of the RNA amount in quantitative RT-PCR experiments. The question whether their expression is influenced by the metabolic state of the patient and/or the tumour transformation is still unresolved and until now, HK genes have been used in quantitative studies without considering that their expression could be different in tumor with respect to normal tissue. Aim of this study was to identify HK genes e...

Background: One of the major limits of gene therapy with sodium iodide symporter (NIS), which enables cells to be subjected to radioiodine therapy, is that NIS transfected cells rapidly release the intracellular iodine.Materials and methods: We transfected two human anaplastic (FRO) and medullary (TT) thyroid cancer derived cell lines, unable to take up iodine, with human NIS cDNA. The possibility of increasing the iodine retention time by treating cells...

We previously found that two cell lines (ARO and FRO) derived from anaplastic thyroid cancer and one (TT) deriving from medullary thyroid cancer did not respond to the retinoic acid (RA) treatment. We supposed that it was related to the lack of the RA receptor RAR beta mRNA expression. It has been suggested that the promoter methylation was one possible cause of loss of RAR beta expression.We analyzed the methylation status of RAR beta promoter in ARO, F...

The reported prevalence of RET somatic mutations in sporadic MTC is about 40–50% and the most frequent somatic mutation is Met918Thr in exon 16. MTC harboring a somatic RET mutation have been demonstrated to have a more advanced stage at diagnosis and a worse outcome. Although RET mutations are believed to be driving events in the MTC tumorigenesis only the finding of somatic mutations in microMTC can confirm this hypothesis.Aim of the present work ...

Mutations in the RET proto-oncogene are responsible for multiple endocrine neoplasia type II. Somatic RET mutations were described in 50% of medullary thyroid carcinoma (MTC). We describe here a novel germline mutation of the RET gene detected in an apparentely sporadic MTC.The index case was a 67 years old patient who arrived at our observation for a bilateral laterocervical linfoadenopathy. The patient was clinically evaluated for thyroid function and ...

About 10–15% of FNA cytologies are nondiagnostic, because of inadequate material or indeterminate (i.e. follicular neoplasms). Aim of this study was to analyse the practical usefulness of the analysis of BRAF mutations and RET/PTC rearrangements, known to be associated to papillary thyroid carcinoma (PTC), in FNA-material.We analysed 100 thyroid nodules with a nondiagnostic cytology: 75 follicular nodules and 25 cases with inadequate material. Fifte...

BRAFV600E mutation is the most frequent genetic alteration (29–83%) of papillary thyroid carcinoma (PTC). Many authors have demonstrated that the presence of the mutation is associated with a more advanced tumor stage at diagnosis and a worse outcome but anyone assessed if BRAFV600E mutation could be useful prognostic marker in low risk PTC patients (T1-T2N0M0, 7th TNM classification).Aim of this study was to evaluate if the presence of BRAFV600E mu...