Endocrine Abstracts

Introduction: Emerging evidence indicates that dysregulation of alternative splicing represents a new hallmark of cancer. This dysregulation may arise from mutations or altered expression of specific components of the splicing machinery. To date, splicing machinery status has not been studied in lung neuroendocrine neoplasms: typical and atypical pulmonary carcinoids.Objectives: Here, we aimed to analyzing the splicing machinery in pulmonary carcinoids a...

BackgroundAdrenocortical carcinoma (ACC) is a rare but devastating tumour of the adrenal gland and the molecular mechanisms of pathogenesis remain incompletely understood. To gain novel insights into the cellular landscape of ACC, we compared single nuclei RNA sequencing (snRNA-seq) datasets from ACC and normal adrenal glands (NAGs).Methods: We isolated single nuclei from 12 ACC snap-frozen samples, including 6 primary tumours, 3 local r...

Background: Insulin resistance and ageing are risk factors for the development of type 2 diabetes and atherosclerosis. Insulin signalling in macrophages affects their inflammatory responses and foam cell formation capacity, yet the mechanisms linking these remain unclear. Recent evidence has emerged linking macrophage lipid metabolism and inflammatory response such as an interferon-cholesterol pathway flux axis. Insulin has been shown to directly regulate chol...

Castration-resistant prostate cancer (CRPC) is an androgen-independent subtype of prostate cancer (PCa) that develops in response to androgen deprivation therapy (ADT). In some advanced CRPC cases, tumors can develop the neuroendocrine (NE) phenotype and progress towards an aggressive PCa subtype known as treatment-induced NE PCa (NEPC), which is characterized by an increase in the population of NE cells that secrete neuropeptides promoting cancer progression. A key player in ...

The spinal cord dorsal horn acts as a hub for the modulation of sensory information, relying heavily upon the interplay of a heterogenous cell population (endothelial cells, astrocytes) with sensory neurons. We have identified in rodent models of hyperglycemic neuropathic pain that spinal microvasculature is damaged. A pathological hallmark of chronic pain is astrogliosis, acting as a potent source of inflammatory response and impacting vessel integrity and sensory neuronal ac...

Background: Wolfram Syndrome (WFS) is a rare genetic progressive neurodegenerative disorder caused by mutation in the gene encoding Wolframin, a protein located in the endoplasmic reticulum. WFS has an estimated prevalence of 1 in 770 000.The hallmark features are Diabetes Mellitus, Diabetes Insipidus, Optic Atrophy, Deafness(DIDMOAD) and neurodegeneration. Classic WFS1 is inherited in an Autosomal Recessive manner whereas the Non-classic form is Autosomal Dom...

The ret proto-oncogene (RET) encodes a transmembrane tyrosine kinase receptor of growth factors belonging to the glial-derived neurotrophic family, essential for the normal development of the kidneys, ureters, peripheral and enteric nervous system. Pathogenic variants in the RET gene result in multiple different phenotypes, which can range from isolated pathologies to multi-system disease, as a result of both loss and gain of RET function. Missense gain of function pathogenic ...

Peripheral precocious puberty (PPP) in males is a rare condition characterized by the premature activation of the hypothalamic–pituitary–gonadal axis, resulting in the early onset of secondary sexual characteristics. We present the case of a one-year-old boy from Pakistan who exhibited PPP along with a left hip region mass.The patient’s initial workup revealed remarkably elevated levels of beta-human chorionic gonadotropin (Bhcg) and serum alphafetoprotein (AFP), indicating po...

Pancreatic neuroendocrine tumors (PanNETs) are heterogeneous neoplasms with a relatively low but increasing incidence, mainly due to the difficulty in diagnosing this disease in its early stages. This notably complicates the treatment of this pathology and leads to a poor prognosis. One of the main reasons for this problem is the lack of adequate diagnostic biomarkers as well as effective therapeutic targets. In this sense, there is still a limited knowledge about alternative ...

Prostate cancer (PCa) represents the most diagnosed tumour pathology in developed countries among men population. The main pharmacological approach to treat this pathology is based on the blockade of the androgen receptor signalling pathway, commonly known as androgen-deprivation therapy. However, some of the patients does no longer respond to this therapy, therefore developing castration-resistant prostate cancer (CRPC), the most aggressive phenotype of this pathology, which ...