Searchable abstracts of presentations at key conferences in endocrinology

ea0094op4.1 | Thyroid | SFEBES2023

Management of thyroid nodules in patient with phosphatase and tensin homolog gene (PTEN) mutation

Yang Wei , Palazzo Fausto , Tolley Neil , Dimarco Aimee , Brady Angela , Tan Tricia

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...

ea0068p36 | Abstracts | UKINETS2019

Two case reports of preserved endocrine and exocrine function in VHL patients with extensive pancreatic cysts

El Sayed Ahmed , Boharoon Hessa , Alsafi Ali , Preitner Nadia , Kosicka-Slawinska Monika , Brady Angela , Hill Peter , Tan Tricia

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...