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Nacev, Benjamin A.; Sanchez-Vega, Francisco; Smith, Shaleigh A.; Antonescu, Cristina R.; Rosenbaum, Evan; Shi, Hongyu; Tang, Cerise; Socci, Nicholas D.; Rana, Satshil; Gularte-Mérida, Rodrigo; Zehir, Ahmet; Gounder, Mrinal M.; Bowler, Timothy G.; Luthra, Anisha; Jadeja, Bhumika; Okada, Azusa; Strong, Jonathan A.; Stoller, Jake; Chan, Jason E.; Chi, Ping; D’Angelo, Sandra P.; Dickson, Mark A.; Kelly, Ciara M.; Keohan, Mary Louise; [...]

Clinical sequencing of soft tissue and bone sarcomas delineates diverse genomic landscapes and potential therapeutic targets

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  • Media type: E-Article
  • Title: Clinical sequencing of soft tissue and bone sarcomas delineates diverse genomic landscapes and potential therapeutic targets
  • Contributor: Nacev, Benjamin A.; Sanchez-Vega, Francisco; Smith, Shaleigh A.; Antonescu, Cristina R.; Rosenbaum, Evan; Shi, Hongyu; Tang, Cerise; Socci, Nicholas D.; Rana, Satshil; Gularte-Mérida, Rodrigo; Zehir, Ahmet; Gounder, Mrinal M.; Bowler, Timothy G.; Luthra, Anisha; Jadeja, Bhumika; Okada, Azusa; Strong, Jonathan A.; Stoller, Jake; Chan, Jason E.; Chi, Ping; D’Angelo, Sandra P.; Dickson, Mark A.; Kelly, Ciara M.; Keohan, Mary Louise; [...]
  • Published: Springer Science and Business Media LLC, 2022
  • Published in: Nature Communications, 13 (2022) 1
  • Language: English
  • DOI: 10.1038/s41467-022-30453-x
  • ISSN: 2041-1723
  • Origination:
  • Footnote:
  • Description: AbstractThe genetic, biologic, and clinical heterogeneity of sarcomas poses a challenge for the identification of therapeutic targets, clinical research, and advancing patient care. Because there are > 100 sarcoma subtypes, in-depth genetic studies have focused on one or a few subtypes. Herein, we report a comparative genetic analysis of 2,138 sarcomas representing 45 pathological entities. This cohort is prospectively analyzed using targeted sequencing to characterize subtype-specific somatic alterations in targetable pathways, rates of whole genome doubling, mutational signatures, and subtype-agnostic genomic clusters. The most common alterations are in cell cycle control and TP53, receptor tyrosine kinases/PI3K/RAS, and epigenetic regulators. Subtype-specific associations include TERT amplification in intimal sarcoma and SWI/SNF alterations in uterine adenosarcoma. Tumor mutational burden, while low compared to other cancers, varies between and within subtypes. This resource will improve sarcoma models, motivate studies of subtype-specific alterations, and inform investigations of genetic factors and their correlations with treatment response.
  • Access State: Open Access