The Integrated Genomic Landscape of Thymic Epithelial Tumors Academic Article uri icon


MeSH Major

  • Mutation
  • Neoplasms, Glandular and Epithelial
  • Thymoma
  • Thymus Neoplasms
  • Transcription Factors, TFII


  • 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.


publication date

  • February 12, 2018



  • Academic Article



  • eng

PubMed Central ID

  • PMC5994906

Digital Object Identifier (DOI)

  • 10.1016/j.ccell.2018.01.003

PubMed ID

  • 29438696

Additional Document Info

start page

  • 244

end page

  • 258.e10


  • 33


  • 2