The integrated genomic landscape of thymic epithelial tumors Journal Article


Authors: Radovich, M.; Pickering, C. R.; Felau, I.; Ha, G.; Zhang, H. L.; Jo, H.; Hoadley, K. A.; Anur, P.; Zhang, J. X.; McLellan, M.; Bowlby, R.; Matthew, T.; Danilova, L.; Hegde, A. M.; Kim, J.; Leiserson, M. D. M.; Sethi, G.; Lu, C.; Ryan, M.; Su, X.; Cherniack, A. D.; Robertson, G.; Akbani, R.; Spellman, P.; Weinstein, J. N.; Hayes, D. N.; Raphael, B.; Lichtenberg, T.; Leraas, K.; Zenklusen, J. C.; The Cancer Genome Atlas Network; Fujimoto, J.; Scapulatempo-Neto, C.; Moreira, A. L.; Hwang, D.; Huang, J.; Marino, M.; Korst, R.; Giaccone, G.; Gokmen-Polar, Y.; Badve, S.; Rajan, A.; Ströbel, P.; Girard, N.; Tsao, M. S.; Marx, A.; Tsao, A. S.; Loehrer, P. J.
Article Title: The integrated genomic landscape of thymic epithelial tumors
Abstract: Thymic epithelial tumors (TETs) are one of the rarest adult malignancies. Among TETs, thymoma is the most predominant, characterized by a unique association with autoimmune diseases, followed by thymic carcinoma, which is less common but more clinically aggressive. Using multi-platform omics analyses on 117 TETs, we define four subtypes of these tumors defined by genomic hallmarks and an association with survival and World Health Organization histological subtype. We further demonstrate a marked prevalence of a thymoma-specific mutated oncogene, GTF2I, and explore its biological effects on multi-platform analysis. We further observe enrichment of mutations in HRAS, NRAS, and TP53. Last, we identify a molecular link between thymoma and the autoimmune disease myasthenia gravis, characterized by tumoral overexpression of muscle autoantigens, and increased aneuploidy.
Keywords: single nucleotide polymorphisms; human cancer; gene-expression; myasthenia-gravis; class discovery; sequencing data; stage classification; somatic point mutations; rna-seq data; ryanodine receptor
Journal Title: Cancer Cell
Volume: 33
Issue: 2
ISSN: 1535-6108
Publisher: Cell Press  
Date Published: 2018-02-12
Start Page: 244
End Page: 258.e10
Language: English
ACCESSION: WOS:000424864000012
DOI: 10.1016/j.ccell.2018.01.003
PROVIDER: wos
PUBMED: 29438696
PMCID: PMC5994906
Notes: Article -- Source: Wos
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  1. James Huang
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