Endocrine Abstracts

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 ...

Aim of the study was to evaluate whether clinical parameters and echographic patterns may be predictive of malignancy in thyroid nodules with a cytological diagnosis of follicular (FOL) and H?rthle cell (HC) neoplasia. The study included 495 patients (388 F: mean age 45±14 yr; 107 M: mean age 46±14 yr) with FOL (n=418) and CH (n=77) nodules, ‘cold’ at scintiscan and undergone to thyroidectomy. Clinical parameters considered were: sex, age, goi...

Aim of the study was to establish the diagnostic value of nuclear atypia thyroid nodules with cytological diagnosis of follicular (FOL) and Hv¨rthle cell (HC) neoplasia. 1039/23.313 fine needle aspiration (FNA) performed in January 2002 June 2005 in the Department of Endocrinology, University of Pisa had cytological diagnosis of FOL e CH. FNA was performed under echo guidance, using 23 gauge needle attached to 10 mL syringe. The material was air-dryed and stained with Pap...

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...

Toxic multinodular goiter is a heterogeneous disease producing hyperthyroidism frequently found in iodine-deficient areas. The aim of this study was to evaluate the gene expression profile of functioning and non-functioning thyroid nodules present in the same thyroid gland from two patients affected by autonomous multinodular goiter by using the Affymetrix technology.Total RNA was extracted from nodular and non nodular tissues, retrotranscribed, and the ...

Background: Riedel’s thyroiditis (RT) is a rare thyroid disease. Clinical and citological differential diagnosis with thyroid malignancy is difficult pre-operatively and often only pathological report may confirm the diagnosis.Methods: We report a case of a 72-year-old Italian woman with a known history of goiter, which showed a rapid increase in size at ultrasound check, suggesting malignancy. Based on non-diagnostic cytology (Thy 1), a total thyro...

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...