Endocrine Abstracts

Background: BCL-2 is an anti-apoptotic protein associated with resistance to tumor cell death and is a histopathologic marker of neuroendocrine differentiation. We characterized the transcriptomic profile of BCL2 expression in NENs and its association with site, immune infiltration, and overall survival (OS).Methods: Next-generation sequencing of both DNA (592-gene panel or whole exome) and RNA (whole transcriptome) was performed on NENs of pancreatic (P...

Background: We conducted whole-exome sequencing (WES) of germline(g) and somatic(s) DNA from a prospective cohort of patients with NENs (n =151) to study the genetic predisposition to NENs.Methods: Variants obtained from gWES were filtered using a standard bio-informatics pipeline. Variant Effect Predictor (Release 107) was applied to obtain population allele frequencies. Variants were restricted to those among 974 genes obtained by combining pu...

Background: Significant advances have been made in the treatment of gastrointestinal (GI-) and pancreatic (P-) NENs. However, the use of immunotherapy is still limited, with most tumors considered immune “cold”. The cGAS-STING signaling pathway has emerged as a critical mediator of inflammation and immune-mediated responses, with pathway agonists under development for enhancing immunotherapy. In this study, we evaluated associations between cGAS-STING pathway activit...

Background: Treatment options are limited in patients with metastatic neuroendocrine neoplasms (NEN). Combination temozolomide and nivolumab showed encouraging objective response rates of 35.7% in advanced NEN regardless of site of origin, with response rates of 64% in lung NEN and 67% in pancreatic NEN (NCT03728361). We present updated survival data on follow-up from a phase II trial of combination nivolumab and temozolomide in patients with advanced NEN.<p class="abstext...

Background: Radiolabeled somatostatin analogs provide a means of delivering targeted radiation with a high therapeutic index to NETs that express somatostatin receptors (SSTRs). We hypothesize that the addition of an effective radiation sensitizer could help improve the antitumor activity of Lutathera. Radiation is a potent inducer of DNA damage. The primary repair mechanism of radiation-induced double-stranded breaks (DSBs) is the nonhomologous end-joining (NHEJ) pathway, in ...

Background: The expression of BCL-2, an anti-apoptotic protein, has been implicated in the aggressive behavior of NENs. Dysregulation of BCL-2 expression, controlled by the pRb1-E2F1 axis, has been linked to the development of various cancers, including NENs. Studies have shown that higher BCL-2 expression is associated with poorer survival outcomes in NEN patients.Methods: We report a unique case of a patient with a pancreatic neuroendocrine tumor who h...

Objective: To evaluate the efficacy of medical management of hyperparathyroidism and evaluate the financial and healthcare impact of delay in surgical intervention within a district general hospital. To assess the duration of use of cinacalcet prescriptions, compare wait times for surgery and assess the service needs.Method: We retrospectively evaluated all patients with primary hyperparathyroidism who received cinacalce...

Background: Hypophosphatemic osteomalacia (HPO)is an uncommon metabolic disease. We describe a case of HPO, where radiological findings of the looser zone (pseudo fractures) were confused with an actual fracture and were scheduled for orthopaedic intervention. Extensive biochemical and radiological investigations followed by an endocrinology review enabled the diagnosis of HPO and prevented surgical intervention.Case history: A 60-year-old gentleman pres...

Assay interference with various laboratory measurements has been reported in the presence of paraproteins. We report a case of a 57 year old woman, who was referred to endocrine clinic after being found to have elevated total vitamin D levels of 369 and 336 nmol/l (normal 50–100 nmol/l). She was not known to be on any Vitamin D supplements that could account for such high levels. Around the time of referral, she was also diagnosed with IgM paraproteinaemia. Therefore, pos...

Assay interference with various laboratory measurements has been reported in the presence of paraproteins. We report a case of a 57 year old woman, who was referred to endocrine clinic after being found to have elevated total vitamin D levels of 369 and 336 nmol/l (normal 50–100 nmol/l). She was not known to be on any Vitamin D supplements that could account for such high levels. Around the time of referral, she was also diagnosed with IgM paraproteinaemia. Therefore, pos...