Endocrine Abstracts

Objectives: RET alterations are targetable oncogenic drivers in TC. Patients with TC, especially those with MTC treated with the multikinase inhibitors cabozantinib and/or vandetanib (C/V), often experience significant treatment-related side effects. Pralsetinib, a selective RET tyrosine kinase inhibitor, showed efficacy in patients with RET-altered TC from the phase 1/2 ARROW trial (NCT03037385). We present the impact of pralsetinib on PROs in patients with ...

Resistance to newly developed androgen receptor pathway inhibitors (ARPIs), such as abiraterone and enzalutamide, rapidly emerges and patients generally die within 2 years. In particular, a subset of patients who relapse following ARPI therapy exhibit lineage switching whereby tumours shed their dependence on AR signaling and emerge with neuroendocrine features. These tumours, termed treatment induced neuroendocrine prostate cancer (t-NEPC), carry an extremely poor prognosis a...

The advent of new genetic techniques that allow for high-throughput sequencing in surgical tumour tissues and germline DNA has boosted progress in many fields of biomedical research. The technique has been proven to be particularly fruitful in the area of endocrine tumours with many new driver genes being identified over the last few years that are involved in cell growth but more importantly in hormonal autonomy. For the adrenal gland examples account for aldosterone and cort...

The advent of new genetic techniques that allow for high-throughput sequencing in surgical tumour tissues and germline DNA has boosted progress in many fields of biomedical research. The technique has been proven to be particularly fruitful in the area of endocrine tumours with many new driver genes being identified over the last few years that are involved in cell growth but more importantly in hormonal autonomy. For the adrenal gland examples account for aldosterone and cort...

Integrins are cell-extracellular matrix adhesion molecules considered functionally related to the development of cancer metastasis. Starting from the dataset of mRNA-seq of papillary thyroid carcinoma (PTC) from the TCGA, we determined the expression of fibronectin 1 (FN1) and fibronectin-binding integrins in PTC. We then analyzed the association of the expression of these two genes with the driver genes, the stage of the disease and its outcome. 355 PTCs and 58 normal thyroid...

Primary hyperparathyroidism, a common endocrine disorder manifested by hypercalcemia and excessive parathyroid hormone levels, is most often due to a benign parathyroid adenoma but can also result from multigland involvement or, rarely, from malignant parathyroid neoplasia. Further, while most cases of primary hyperparathyroidism have a nonfamilial/sporadic presentation, an important minority occurs in the setting of strong familial predispositions. In recent years much has be...

Primary hyperparathyroidism, a common endocrine disorder manifested by hypercalcemia and excessive parathyroid hormone levels, is most often due to a benign parathyroid adenoma but can also result from multigland involvement or, rarely, from malignant parathyroid neoplasia. Further, while most cases of primary hyperparathyroidism have a nonfamilial/sporadic presentation, an important minority occurs in the setting of strong familial predispositions. In recent years much has be...

Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine neoplasms (NENs) that arise in the adrenal medulla and paraganglia, respectively. As occurs in the rest of NENs, PPGLs commonly present a high density of somatostatin receptors (SSTs) on their membrane. However, unlike in most NENs, somatostatin analogues (SSAs) do not represent a suitable therapeutic target in PPGLs, and the mechanisms underlying this mismatch are still unclear. In this study, we aim to iden...

Lung cancer is globally the biggest cause of cancer-related death, resulting in almost 1.6 million deaths per year. Neuroendocrine tumours amount to up to 25% of all lung cancer diagnoses. Pulmonary neuroendocrine tumours lie on a biological continuum of malignant behaviour, which range from the malignant, but relatively indolent, typical carcinoid tumours to small cell lung carcinoma- the most aggressive of the primary neuroendocrine lung tumours. Although small cell carcinom...

Introduction: Cushing’s disease (CD) is caused by pituitary tumors hypersecreting adrenocorticotropin (ACTH). Until now somatic mutations in the 14-3-3 binding domain of Ubiquitin Specific Peptidase 8 gene (USP8) were the only recurring, driver mutations and were described in about 40% of the 446 CD samples that have been analysed wordwide. We wanted to assess if other driver mutations might be the pathogenetic cause of CD in those tumors without USP8 mu...