High-resolution genomic profiling reveals gain of chromosome 14 as a predictor of poor outcome in ileal carcinoids

Abstract

Ileal carcinoids are malignant neuroendocrine tumours of the small intestine. The aim of this study was to obtain a high-resolution genomic profile of ileal carcinoids in order to define genetic changes important for tumour initiation, progression and survival. Forty-three patients with ileal carcinoids were investigated by high-resolution array-based comparative genomic hybridization. The average number of copy number alterations (CNAs) per tumour was 7

Genetic and epigenetic drivers of neuroendocrine tumours (NET)

“…It occurs in more than 60% of tumours (Wang et al 2005, Kulke et al 2008, Andersson et al 2009, Hashemi et al 2013. Relevant genes at 18q21.1 include SMAD2 and SMAD4, but to date, sequencing of these genes has not revealed any mutations (Lollgen et al 2001, Kulke et al 2008.…”

“…Relevant genes at 18q21.1 include SMAD2 and SMAD4, but to date, sequencing of these genes has not revealed any mutations (Lollgen et al 2001, Kulke et al 2008. Other common losses in SI-NET occur on chromosomes 11q, 16, 9, 13 and 3p (Kim et al 2008, Kulke et al 2008, Andersson et al 2009, Cunningham et al 2011. Different putative candidate tumour suppressor genes have been identified in these regions, like p16/CDKN2A on 9p, RYBP on 3p, SDHD, CASP1, 4 and 5 on 11q and CDH1 on 16q (Kim et al 2008, Kulke et al 2008, Andersson et al 2009, Cunningham et al 2011.…”

“…Other common losses in SI-NET occur on chromosomes 11q, 16, 9, 13 and 3p (Kim et al 2008, Kulke et al 2008, Andersson et al 2009, Cunningham et al 2011. Different putative candidate tumour suppressor genes have been identified in these regions, like p16/CDKN2A on 9p, RYBP on 3p, SDHD, CASP1, 4 and 5 on 11q and CDH1 on 16q (Kim et al 2008, Kulke et al 2008, Andersson et al 2009, Cunningham et al 2011. Several independent studies showed recurrent gains of whole chromosomes, the most common ones are on chromosomes 4, 5, 7, 14 and 20 (Kim et al 2008, Kulke et al 2008, Andersson et al 2009, Cunningham et al 2011).…”

“…Different putative candidate tumour suppressor genes have been identified in these regions, like p16/CDKN2A on 9p, RYBP on 3p, SDHD, CASP1, 4 and 5 on 11q and CDH1 on 16q (Kim et al 2008, Kulke et al 2008, Andersson et al 2009, Cunningham et al 2011. Several independent studies showed recurrent gains of whole chromosomes, the most common ones are on chromosomes 4, 5, 7, 14 and 20 (Kim et al 2008, Kulke et al 2008, Andersson et al 2009, Cunningham et al 2011). Andersson and coworkers demonstrated a strong correlation between gain of chromosome 14 and poor survival (Andersson et al 2009).…”

“…Several independent studies showed recurrent gains of whole chromosomes, the most common ones are on chromosomes 4, 5, 7, 14 and 20 (Kim et al 2008, Kulke et al 2008, Andersson et al 2009, Cunningham et al 2011). Andersson and coworkers demonstrated a strong correlation between gain of chromosome 14 and poor survival (Andersson et al 2009). Kulke and coworkers observed a local amplification of a locus in chromosome 14q, a small region in this locus encompasses a control element known to influence the expression of the antiapoptotic protein DAD1.…”