Endocrine Abstracts

Pituitary adenomas consist of a group of highly heterogeneous intracranial tumours with variable presentation, clinical prognosis and management. High throughput sequencing was used in order to try and identify common de-regulated pathways and characterize tumours according to specific molecular behaviour. RNA sequencing (RNAseq) was chosen since it provides not only information regarding the expression profile but also the mutational load of each specific tumour analysed. 58 ...

Pituitary tumorigenesis has been analysed from multiple perspectives, yet mRNA expression profiling studies are limited. In this study, microarray analysis was used to identify pathways and networks related to pituitary tumour physiology using key de-regulated genes and bioinformatics analysis. Eight pituitary adenomas (five non-functional tumours, two GH-secreting tumours and a TSH/prolactin-secreting tumour) and a pool of random normal control RNA were profiled for RNA expre...

The Wnt developmental pathway has been implicated in tumour growth and development in a number of tissues. Most frequently, the canonical Wnt pathway acting through the nuclear translocation of B-catenin has been the key player in driving tumour growth. However, non-canonical Wnt pathways, namely the Wnt-Calcium signalling and the Wnt-planar polarity pathways have also been found de-regulated in a number of cancers. In this study, microarray analysis on locally resected PA rev...

Background: PAs are the most frequent pituitary neoplasms, however molecular pathogenesis is largely unknown. The AHR is a ligand-activated transcription factor that regulates expression of various genes that mediate cellular response to xenobiotics. The exact functional role of two AHR single nucleotide polymorphisms (SNPs); Arginine554Lysine (Arg554Lys) and Valine570Isoleucine (Val570Ile) has not yet been established, however studies suggest that these mutations might increa...

Recently the Aryl hydrocarbon receptor – interacting protein (AIP) gene attracted attention as a novel gene linked to familial cases of acromegaly. In Malta the predicted prevalence of pituitary adenomas is particularly high, 4.67 per 10,000 population, thus suggesting a genetic predisposition.Fourty seven maltese patients with acromegaly were screened for germ-line mutations in the AIP gene. Pituitary tumour tissue, removed during transphenoidal su...

Pituitary neuroendocrine tumours (PitNETs) are broadly classified as non-functioning pituitary adenomas (NFPAs) and functional pituitary adenomas (FPAs) which include growth hormone secreting adenomas (GHPAs). Since the role of the immune system in PitNET pathogenesis is still poorly understood, we employed RNA-sequencing technology to unravel differentially expressed genes in GHPAs and NFPAs. Here we present an RNA-sequencing workflow of GHPAs (n=3) and NFPAs (n<...