| Literature DB >> 29438696 |
Milan Radovich1, Curtis R Pickering2, Ina Felau3, Gavin Ha4, Hailei Zhang4, Heejoon Jo5, Katherine A Hoadley5, Pavana Anur6, Jiexin Zhang2, Mike McLellan7, Reanne Bowlby8, Thomas Matthew9, Ludmila Danilova10, Apurva M Hegde2, Jaegil Kim4, Mark D M Leiserson11, Geetika Sethi12, Charles Lu7, Michael Ryan2, Xiaoping Su2, Andrew D Cherniack4, Gordon Robertson8, Rehan Akbani2, Paul Spellman6, John N Weinstein2, D Neil Hayes5, Ben Raphael11, Tara Lichtenberg13, Kristen Leraas13, Jean Claude Zenklusen3, Junya Fujimoto2, Cristovam Scapulatempo-Neto14, Andre L Moreira15, David Hwang16, James Huang17, Mirella Marino18, Robert Korst19, Giuseppe Giaccone20, Yesim Gokmen-Polar1, Sunil Badve1, Arun Rajan3, Philipp Ströbel21, Nicolas Girard22, Ming S Tsao23, Alexander Marx24, Anne S Tsao25, Patrick J Loehrer26.
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.Entities:
Keywords: TCGA; autoimmunity; genomics; myasthenia gravis; proteomics; thymic carcinoma; thymic epithelial tumors; thymoma; transcriptomics
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Year: 2018 PMID： 29438696 PMCID： PMC5994906 DOI： 10.1016/j.ccell.2018.01.003
Source DB: PubMed Journal: Cancer Cell ISSN： 1535-6108 Impact factor: 31.743