Endocrine Abstracts

Introduction:The ovarian surface epithelium (OSE) covers the surface of the ovary, and is subjected to rupture and repair during ovulation. Ovulation bears hallmarks of a wound / heal event, including inflammation. Though integral to ovulation, inflammation may cause cellular damage leading to ovarian tumours, of which >90% are OSE derived. Progesterone, produced in large amounts at ovulation, has anti-inflammatory properties. The aim of this study wa...

Parathyroid tumours occurring in association with ossifying fibromas of the jaw are the hallmarks of the hyperparathyroidism-jaw tumour (HPT-JT) syndrome, which is inherited as an autosomal dominant trait. The HPT-JT gene, which is located on chromosome 1q25, consists of 17 exons and encodes a 531 amino acid protein named PARAFIBROMIN (Nature Genetics, in press). The observation of loss of heterozygosity (LOH) involving 1q25 in HPT-JT parathyroid tumours and the detection of i...

IgG4-related disease (IgG4-RD) is a fibro-inflammatory, immune-mediated, systemic disease usually presenting with tumefactive lesions and a subacute onset mimicking malignancy. A subset of autoimmune thyroid pathologic conditions can be incorporated in the spectrum of IgG4-RD. In some cases of Hashimoto’s Thyroiditis (HT) a rich IgG4-positive plasma cell infiltration has been described, and a marked storiform fibrosis is typical of the fibrotic variant of HT (FVHT) and of...

Introduction: Chronic kidney disease (CKD) is characterised by an ongoing reduction in kidney function and is associated with comorbidities such as muscle wasting that greatly increase mortality. Both acidosis and elevated glucocorticoids levels are hallmarks of CKD and implicated as having a synergistic role in driving muscle wasting. We investigated the synergistic effects of acidosis and the glucocorticoid cortisol on muscle metabolism and fibre size using ...

Background: A metastatic mesenteric mass is a hallmark of small intestinal neuroendocrine tumours (SI-NETs). However, little is known about the evolution of a SI-NET-associated mesenteric mass over time.Methods: Retrospectively, 530 patients with proven SI-NET and ≥2 available CT-scans were assessed for clinical characteristics at diagnosis and the presence and growth of a mesenteric mass on every consecutive CT-scan until end of follow-up or resec...

Adrenocortical carcinoma (ACC) is a routinely fatal cancer with no effective treatments. Understanding the genetic landscape of ACC is essential to develop novel therapeutic strategies. Recent large-scale cancer genomics projects have revealed core signalling pathways frequently altered in human ACC tumours, including the Wnt/b-catenin pathway. Aberrant Wnt activation is a hallmark of ACC observed in ~40% of tumours, and can be driven by diverse mutational events. These includ...

Cell immortalization has been considered for a long time as a classic hallmark of cancer cells. Besides telomere maintenance due to the ‘alternative mechanism of telomere lengthening’ it was advanced that such immortalization could be due to telomerase reactivation, but the mechanisms underlying such reactivation remained elusive.Mutations in the coding region of telomerase gene are very rare in the cancer setting, despite being associated with...

Prevention of disease or severe complications is the intended hallmark of modern medicine. Currently available diagnostic methods allow the early recognition of an increasing number of diseases allowing timely treatment and hopefully better long-term outcomes. The best examples of this strategy are genetic diseases and every week the genetic cause for another disease is identified. Therefore, the understanding of the practicing clinician the nature and pitfalls of genetic test...

Podoplanin (PDPN), a mucine type transmembrane glycoprotein specific to lymphatic system is expressed in a variety of human tumors and regarded as a factor promoting tumor progression. In a recent work, we found PDPN expression in tumor cells of 40% of papillary thyroid carcinomas (PTC), however it role remains unclear. The purpose of this study was to elucidate the molecular role of PDPN in the biology of thyroid cancer cells.PDPN gene and prot...

The loss of regulatory control of the cell, leading to unrestrained cell proliferation, is a hallmark of cancer. In a number of cancers, over expression of cyclin A and cyclin B1 proteins has been reported and in some instances the level of expression correlated well with the grades of malignancy. In the present study, we analyzed, by immunohistochemistry, the expression of cyclins A and B1, proteins enable passing G(2)-restriction point, in different histological variants of ...