Endocrine Abstracts

Introduction: Phosphatase and tensin homolog gene (PTEN) gene encodes a lipid phosphatase that plays a central role in cell-cycle processes. PTEN hamartoma tumour syndrome (PHTS), caused by the mutation of the PTEN gene, is a diverse multi-system disorder. PHTS is characterised by the hamartomatous growths, increased risk of breast, thyroid, and renal cancers. In terms of thyroid presentation of PHTS, there is up to 75% risk of multinodular goitre and the life...

Von Hippel-Lindau (VHL) disease is an inherited tumour syndrome, caused by a mutation in the VHL tumour suppressor gene encoding the VHL protein. Patients are prone to cysts and neuroendocrine tumours in the pancreas and other benign and malignant neoplasms. Pancreatic cysts occur in approximately 70% of VHL patients. We describe two cases of VHL disease with extensive multi-cystic changes affecting the whole pancreas, both patients had deletions of exon 2–3 of the VHL ge...