Searchable abstracts of presentations at key conferences in endocrinology

ea0034oc5.2 | Pituitary | SFEBES2014

Implications of the upregulation of lysine specific demethylase 1 in the pathogenesis of pituitary adenomas

Thompson Iain , He Min , Clark Erin , Xu Shuyun , Tang Dan , Laws Edward , Shi Yujiang , Carroll Rona , Kaiser Ursula

The pathogenesis of pituitary adenomas is poorly understood. One of the first genetic abnormalities identified in association with pituitary adenomas occurs in patients with multiple endocrine neoplasia type-1 (MEN-1), due to mutations in the MEN1 gene, encoding menin. A tumor suppressor, menin associates with histone methyltransferase complexes to change the expression of cyclin-dependent kinase (CDK) inhibitor genes, which may serve as an underlying epigenetic mecha...

ea0099p191 | Late-Breaking | ECE2024

Activating somatic ESR1 mutation in an aggressive prolactinoma

Silva Ticiana , Buelvas Mebarak Jacobo , C. Magnotto John , A. Stamatiades George , Kuang Yanan , Paweletz Cloud , R. Laws Edward , Stephanie Carroll Rona , Jeselsohn Rinath , Mohan Dipika , Marcondes Lerario Antonio , Truong Minh-Tam , Linda Bi Wenya , A. Reardon David , M. Meredith David , Kaiser Ursula , Paula Abreu Ana

Introduction: Prolactinomas are benign tumors usually well controlled with dopamine agonists; few progress on medical therapy through unclear molecular mechanisms. Although the SF3B1 mutation has been recently associated with aggressive prolactinomas, in most cases, no genetic mutations have been reported. We aimed to identify somatic genetic alterations associated with prolactinomas using a gene panel.Method and Results: Oncopanel, a massively ...