Endocrine Abstracts

Thyroid cancer (TC) is the most common endocrine tumor and its incidence has increased faster than in any other malignancy. Although TCs are usually well differentiated, disease recurrence or persistence is high, because of local and distant metastasis and therapeutic resistance. Among the different genetic alterations, BRAFV600E is the most frequent one. Several studies tried to establish a correlation between BRAFV600E and patients outcome, with controversial results. Nevert...

Mutations in SLC26A4 cause Pendred syndrome (PS) and a non syndromic deafness associated with the enlargement of the vestibular aqueduct (LVAS). In many patients with a PS/LVAS phenotype, mutation screening of SLC26A4 fails to identify two disease-causing allele variants, suggesting that other genetic factors could be involved. Indeed, mutations in the SLC26A4 promoter (FBS1), in FOXI1, a transcriptional activator of SLC26A4, and in a K+ channel gene (KCNJ10) have been very re...

It is still debated if the coexistence of papillary thyroid cancer (PTC) with a thyroid autoimmune process is associated with a better or worst outcome. Moreover, though a direct relationship between oncogenes and the activation of a pro-inflammatory program has been documented, the genetic background of PTCs with associated autoimmunity is not known.Aim of the present study was to to investigate the clinical and molecular features of PTCs associated or ...

Congenital hypothyroidism is frequently associated with congenital cardiac malformations (CCM). Studies in knock-out mice showed that heart and great vessels organogenesis share some nuclear transcription factors with the embryonic thyroid, suggesting that thyroid defects may have a higher prevalence in children with CCM. The present study investigated thyroid function and morphology in 280 children (145 M/135 F, aged 0.3–12 years), affected by CCM (septal defects, ductus...

Complete androgen insensitivity syndrome (CAIS) is a rare X-linked disorder caused by androgen receptor gene (AR) mutations that result in complete impairment of genital virilisation. Usually CAIS patients, who have normal production of AMH by Sertoli Cells, do not show Mullerian derivatives, although the persistence of Mullerian duct derivatives up to now have been described in nine cases.Here, we report the case of a fetus aborted at 20 weeks for genit...

Thyroid cancer represents the second more frequent tumor among those diagnosed during pregnancy. Indeed, during pregnancy thyroid volume increases by 20–30% and new nodules can appear, due to the effect of choriogonadotropin which stimulates thyroid growth. Hence, it has been proposed that thyroid cancer diagnosed during pregnancy could harbour a poorer prognosis. Aim of the present study was to compare the clinical outcome in the following 3 groups of patients affected w...

Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor arising from parafollicular C-cells. Nowadays different targeted therapies are available, directed mostly against the main genetic driver of MTC, RET, and against the common pro-oncogenic pathways of VEGF, EGFR and c-MYC. Despite this, an escape phenomenon has been observed with sudden disease progression during treatment, leaving surgery as the only curative treatment. The evaluation of pre and post treatment ge...

Objectives: The worldwide incidence of thyroid cancer (TC) is increasing at an alarming rate in the last decades and environmental pollution has been suggested to be involved in this rise. Some environmental pollutants, namely endocrine disruptive chemicals (EDCs), have been linked to endocrine system disruption, including thyroid dysfunction, and increased risk of cancer. Among EDCs, per- and polyfluoroalkyl substances (PFAS) are widely used in many industrial and consumer pr...

Objectives: Differentiated TCs are generally sensitive to first line treatments and tyrosine kinase inhibitors (TKIs). However, part of them along with undifferentiated TC, namely Anaplastic (ATC) and Poorly Differentiated (PDTC), are aggressive and show refractoriness to tyrosine-kinase inhibitors (TKIs) treatments. A correlation between resistance to TKIs and inactivating TP53 mutations was proven in TC by our group, consistent with data obtained in other tumors. To...

Background: Several adverse events are recorded during treatment with tyrosine-kinase inhibitors (TKIs). Hypocalcemia was reported during phase III clinical trials with both Lenvatinib and Vandetanib, but scanty data are available in a real-life setting. Aim of our study was to evaluate hypocalcemia occurrence and its characteristics in a cohort of patients treated with these drugs for advanced thyroid cancer. Moreover, in patients treated with Lenvatinib, we examined a possib...