| Literature DB >> 30107176 |
Ian Ganly1, Vladimir Makarov2, Shyamprasad Deraje3, YiYu Dong3, Ed Reznik4, Venkatraman Seshan5, Gouri Nanjangud6, Stephanie Eng3, Promita Bose3, Fengshen Kuo3, Luc G T Morris7, Inigo Landa3, Pedro Blecua Carrillo Albornoz2, Nadeem Riaz2, Yuri E Nikiforov8, Kepal Patel9, Christopher Umbricht10, Martha Zeiger10, Electron Kebebew11, Eric Sherman12, Ronald Ghossein13, James A Fagin3, Timothy A Chan14.
Abstract
The molecular foundations of Hürthle cell carcinoma (HCC) are poorly understood. Here we describe a comprehensive genomic characterization of 56 primary HCC tumors that span the spectrum of tumor behavior. We elucidate the mutational profile and driver mutations and show that these tumors exhibit a wide range of recurrent mutations. Notably, we report a high number of disruptive mutations to both protein-coding and tRNA-encoding regions of the mitochondrial genome. We reveal unique chromosomal landscapes that involve whole-chromosomal duplications of chromosomes 5 and 7 and widespread loss of heterozygosity arising from haploidization and copy-number-neutral uniparental disomy. We also identify fusion genes and disrupted signaling pathways that may drive disease pathogenesis.Entities:
Keywords: Hurthle cell carcinoma; copy-number alterations; fusion genes; genomics; mitochondrial mutations; transcriptome
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Year: 2018 PMID： 30107176 PMCID： PMC6247912 DOI： 10.1016/j.ccell.2018.07.002
Source DB: PubMed Journal: Cancer Cell ISSN： 1535-6108 Impact factor: 31.743