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.
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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) ...
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