Endocrine Abstracts

Introduction: Forkhead box E1 (FOXE1) gene encodes a transcription factor crucial for thyroid morphogenesis, differentiation, and function. We previously found evidence of the involvement of a rare germline FOXE1 variant in familial non-medullary thyroid carcinoma (FNMTC) etiology. FNMTC most common subtype is papillary thyroid carcinoma (PTC), and family members frequently present thyroid follicular nodular disease (FND). Germline FOXE1 mu...

Primary adrenal insufficiency (PAI) in children is usually congenital with more than 25 causal genes with overlapping phenotypes. Genetic diagnosis helps to guide management and genetic counselling but can be challenging in resource limited settings. The most common genetic aetiologies for PAI in Sudan are congenital adrenal hyperplasia (CAH; mostly CYP21A2) and Triple A syndrome (AAAS). Here we investigate other genetic aetiologies of PAI in a cohort of 43 Sudanese families (...

Background: Complications of excess weight (CEW) clinics were commissioned by NHSE in 2021 to be leaders in the field of paediatric obesity using innovative models to deliver the highest quality patient care. Technological approaches offer a widely accessible tool which could potentially complement current clinical models of care. This study aims to explore children and young peoples (CYP) views on whether digital technology could/should be used to enhance CEW...

Background: G3NETs demonstrate variable clinical behavior (Ki-67>20-100%). Treatment extrapolated from grade 1/2 (G1/2) NETs and neuroendocrine carcinomas depending on clinicopathologic features. Therapy for treatment-emergent G3NETs remains especially ill-defined.Methods: Retrospective chart review of patients with de novo G3NETs or progressing from low-to-high grade (L-H) (G1/2 at diagnosis and G3 >=3 months later). Treatment patterns compared ...

Background: Expected progression free survival (PFS) for patients with grade 3 well-differentiated neuroendocrine tumors (WD NET) treated with peptide receptor radionuclide therapy (PRRT) is approximately 9 months, and objective response rate (ORR) is 35%. Response rate to single agent immune checkpoint inhibitors (ICI) for patients with G1-3 NET is <15%. Delivery of targeted radiation using PRRT may potentiate the anti-tumor immune response. The purpose of this study is t...

Background: Well-differentiated gastroenteropancreatic neuroendocrine tumors (GEP-NETs) are commonly characterized by high-density expression of somatostatin receptors (SSTRs), which can be targeted by radiopharmaceutical therapy (RPT) via radiolabeled somatostatin analogues (SSAs). RYZ101 (225Ac-DOTATATE) is a first-in-class, highly potent alpha-emitting RPT being developed for the treatment of SSTR+ solid tumors. Alpha-particles (such as those emitted by 225<...

Background: Neuroendocrine tumors (NETs; ~2% of all malignancies) commonly arise from the GI tract, pancreas, and lung and often present with metastatic disease. The PI3K/Akt/mTOR pathway is implicated in the pathogenesis and progression of NETs. The oral mTOR inhibitor (mTORi), everolimus, is approved for treatment of patients with NETs of the GI tract, lung, or pancreas. However, due to the rarity and heterogeneity, nonspecific clinical symptoms, and unique indolent biology,...

Background: nab-Sirolimus, approved in the US for patients with advanced malignant PEComa, is a novel albumin-bound mTOR inhibitor (mTORi) that inhibits the mTOR pathway via suppression of the mTORC1 complex. When TSC1 or TSC2 is inactivated via mutation or loss, the mTOR pathway may be aberrantly activated. TSC1 and TSC2 alterations occur in a range of common cancers. Clinically, in the AMPECT exploratory analysis of nab-sirolimus in advanced malignant PEComa (NCT02494570), 8...

Background: The Short Synacthen test (SST) is commonly used in clinical practice to evaluate adrenal function. Appropriate patient selection for SST is needed to ensure accurate interpretation of the results and to mitigate increased healthcare costs associated with unnecessary testing and inappropriate glucocorticoid (GC) steroid replacement. This study aimed to investigate the indications of inpatient SSTs over a one-year period, to determine the accuracy of testing.<p c...

Background: It is well established that life-long follow-up is required for patients with hereditary pheochromocytomas and paragangliomas (PPGLs), due to the potential of developing recurrent disease. However, whether follow-up of patients with sporadic PPGLs is necessary, remains unclear.Aims: To examine the prevalence and predictors of recurrent disease in patients with sporadic PPGLs.Materials and method: This multicenter study included retrospective ...