Publications by authors named "A Tacito"
Article Synopsis
- MEN2 is a hereditary cancer syndrome linked to proto-oncogene mutations, with two main forms: MEN2A and MEN2B, both typically featuring medullary thyroid carcinoma (MTC) and pheochromocytoma (Pheo).
- A 7-year-old girl with a history of neurofibroma presented with a unique MEN2B case, exhibiting hyperparathyroidism (HPTH) and other complications, including bilateral thyroid nodules and a pelvic tumor.
- Genetic analysis revealed a new germline deletion, and surgical interventions confirmed bilateral MTC, lymph node metastases, and hyperplastic parathyroid tissue linked to this atypical syndrome phenotype.
Vandetanib is an important treatment option for advanced metastatic medullary thyroid cancer. The aims of this study were to evaluate the predictors of both a longer response to vandetanib and the outcome. Medical records of 79 medullary thyroid cancer patients treated with vandetanib at our center were analysed.
View Article and Find Full Text PDFSporadic Medullary Thyroid Carcinoma (sMTC) is a rare but aggressive thyroid tumor. RET and RAS genes are present in about 50%-80% of cases, but most of the remaining cases are still orphan of a genetic driver. We studied the largest series of sMTC by deep sequencing to define the mutational landscape.
View Article and Find Full Text PDFBackground: Pathogenic germline mutations affecting the proto-oncogene underlie the development of hereditary medullary thyroid carcinoma (MTC). The aims of this study were to evaluate the prevalence of germline mutations in a large series of MTC, collected over the last 25 years, and to reappraise their clinical significance.
Methods: We performed genetic screening in 2031 Italian subjects: patients who presented with sporadic (n = 1264) or hereditary (n = 117) MTC, plus 650 relatives.
Pourposes: We investigated the expression of RET9 and RET51 isoforms in medullary (MTC), papillary (PTC) thyroid carcinoma, normal thyroid tissues, and pheochromocytoma (PHEO) to verify if these isoforms are present also in follicular thyroid cell-derived tissues, and if there is a differential expression of RET9 and RET51 in MTC.
Methods: Nineteen patients with MTC, 18 patients with PTC, 18 samples of contralateral normal thyroid tissues, and 5 cases of PHEO were included in this study. RET isoform expression was studied by real-time RT-PCR.