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Epigenetic dysregulation and poorer prognosis in DAXX-deficient pancreatic neuroendocrine tumours

Pipinikas, C; Dibra, H; Karpathakis, A; Feber, A; Novelli, M; Oukrif, D; Fusai, G; ... Thirlwell, C; + view all (2015) Epigenetic dysregulation and poorer prognosis in DAXX-deficient pancreatic neuroendocrine tumours. [Letter]. Endocrine-Related Cancer , 22 (3) L13-L18. 10.1530/ERC-15-0108. Green open access

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Abstract

Exome sequencing of sporadic pancreatic neuroendocrine tumours (PNETs) has identified mutually exclusive mutations in the chromatin regulators α- thalassaemia/mental retardation X-linked (ATRX) and death associated protein 6 (DAXX) genes in 43% of cases (18% and 23% of cases respectively in 68 cases studied) (Elsässer et al. 2011; Jiao et al. 2011). ATRX and DAXX are chromatin remodelers; their loss leads to alternative lengthening of telomeres (ALT) and chromosomal instability (CIN) (Heaphy et al. 2011). ALT is a telomerase independent mechanism for maintenance of telomere stabilisation. Although it was initially reported that ATRX/DAXX mutant tumours had superior 10-year survival and outcome (Jiao et al. 2011), a recent larger study on 243 tumours has demonstrated that ATRX and DAXX loss and associated ALT in PNETs correlates with CIN, advanced tumour stage, development of metastases and poorer progression free (PFS) and overall survival (OS) (Marinoni et al. 2014) ...

Type: Article
Title: Epigenetic dysregulation and poorer prognosis in DAXX-deficient pancreatic neuroendocrine tumours
Open access status: An open access version is available from UCL Discovery
DOI: 10.1530/ERC-15-0108
Publisher version: http://dx.doi.org/10.1530/ERC-15-0108
Language: English
Additional information: This is an open access Research Letter licensed under a Creative Commons Attribution 3.0 Unported License.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Cancer Bio
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Oncology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Pathology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Surgery and Interventional Sci
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Surgery and Interventional Sci > Department of Surgical Biotechnology
URI: https://discovery.ucl.ac.uk/id/eprint/1467374
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