Endocrine Abstracts

Introduction: Heterozygote loss-of-function mutations in AIP (Aryl hydrocarbon receptor interacting protein) predispose to young-onset pituitary adenomas. Homozygote murine knockout model of AIP leads to lethality. While the majority of the 75 published AIP mutations result in truncated or missing proteins, missense mutations are more difficult to characterise and to establish their pathogenic role. We have identified the orthologue of AIP, CG1847, in Drosophila melanogaster. ...

Introduction: Tumours with aryl hydrocarbon receptor interacting (AIP) mutations often show an unusually aggressive and invasive clinical course as up to 80% of AIP positive pituitary adenomas have a certain degree of extrasellar extension. The exact mechanisms by which AIP inactivation promotes an aggressive behaviour remain unknown. The majority of adenohypophysis is composed of sinuous cords of epithelial cells and consequently, molecules that can induce remodellin...

Introduction: Loss-of-function mutations in AIP are associated with familial isolated pituitary adenoma, often leading to gigantism due to invasive GH-secreting pituitary adenomas. One challenging problem in the management of patients carrying a missense AIP variant is to determine whether the missense variant is a disease-causing mutation or not. As most of the molecular mechanisms involved in the control of growth and the cell cycle are well-conserved, we p...