ATRX loss is an independent predictor of poor survival in pancreatic neuroendocrine tumours

Pancreatic neuroendocrine tumours (PanNETs) are rare neoplasms accounting for 1-2% of all pancreatic tumours. The biological behaviour of PanNETs is heterogeneous and unpredictable, adding to the difficulties of clinical management. The DAXX (death domain associated protein) and ATRX (alpha-thalassemia/mental retardation syndrome X-linked) genes encode proteins involved in SWI/SNF-like chromatin remodelling. Somatic inactivating mutations in DAXX and ATRX are frequent in PanNETs, mutually exclusive, and associated with telomere dysfunction resulting in genomic instability and alternate lengthening of telomeres.

Source: Human Pathology - August 3, 2018 Category: Pathology Authors: Angela Chou, Malinda Itchins, Philip R de Reuver, Jennifer Arena BSc, Adele Clarkson BSc, Amy Sheen BSc, Loretta Sioson BSc, Veronica Cheung MChD, Aurel Perren, Christopher Nahm, Anubhav Mittal, Jaswinder S Samra, Marina Pajic, Anthony J Gill Tags: Original contribution Source Type: research