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Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas.

Publication ,  Journal Article
Cancer Genome Atlas Research Network. Electronic address: elizabeth.demicco@sinaihealthsystem.ca, ; Cancer Genome Atlas Research Network,
Published in: Cell
November 2, 2017

Sarcomas are a broad family of mesenchymal malignancies exhibiting remarkable histologic diversity. We describe the multi-platform molecular landscape of 206 adult soft tissue sarcomas representing 6 major types. Along with novel insights into the biology of individual sarcoma types, we report three overarching findings: (1) unlike most epithelial malignancies, these sarcomas (excepting synovial sarcoma) are characterized predominantly by copy-number changes, with low mutational loads and only a few genes (TP53, ATRX, RB1) highly recurrently mutated across sarcoma types; (2) within sarcoma types, genomic and regulomic diversity of driver pathways defines molecular subtypes associated with patient outcome; and (3) the immune microenvironment, inferred from DNA methylation and mRNA profiles, associates with outcome and may inform clinical trials of immune checkpoint inhibitors. Overall, this large-scale analysis reveals previously unappreciated sarcoma-type-specific changes in copy number, methylation, RNA, and protein, providing insights into refining sarcoma therapy and relationships to other cancer types.

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Published In

Cell

DOI

EISSN

1097-4172

Publication Date

November 2, 2017

Volume

171

Issue

4

Start / End Page

950 / 965.e28

Location

United States

Related Subject Headings

  • Young Adult
  • Sarcoma
  • Mutation
  • Middle Aged
  • Humans
  • Genome-Wide Association Study
  • Genome, Human
  • Epigenomics
  • Developmental Biology
  • DNA Copy Number Variations
 

Citation

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Cancer Genome Atlas Research Network. Electronic address: elizabeth.demicco@sinaihealthsystem.ca, ., & Cancer Genome Atlas Research Network, . (2017). Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas. Cell, 171(4), 950-965.e28. https://doi.org/10.1016/j.cell.2017.10.014
Cancer Genome Atlas Research Network. Electronic address: elizabeth.demicco@sinaihealthsystem.ca, Namasivayam, and Namasivayam Cancer Genome Atlas Research Network. “Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas.Cell 171, no. 4 (November 2, 2017): 950-965.e28. https://doi.org/10.1016/j.cell.2017.10.014.
Cancer Genome Atlas Research Network. Electronic address: elizabeth.demicco@sinaihealthsystem.ca, Cancer Genome Atlas Research Network. Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas. Cell. 2017 Nov 2;171(4):950-965.e28.
Cancer Genome Atlas Research Network. Electronic address: elizabeth.demicco@sinaihealthsystem.ca, Namasivayam, and Namasivayam Cancer Genome Atlas Research Network. “Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas.Cell, vol. 171, no. 4, Nov. 2017, pp. 950-965.e28. Pubmed, doi:10.1016/j.cell.2017.10.014.
Cancer Genome Atlas Research Network. Electronic address: elizabeth.demicco@sinaihealthsystem.ca, Cancer Genome Atlas Research Network. Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas. Cell. 2017 Nov 2;171(4):950-965.e28.
Journal cover image

Published In

Cell

DOI

EISSN

1097-4172

Publication Date

November 2, 2017

Volume

171

Issue

4

Start / End Page

950 / 965.e28

Location

United States

Related Subject Headings

  • Young Adult
  • Sarcoma
  • Mutation
  • Middle Aged
  • Humans
  • Genome-Wide Association Study
  • Genome, Human
  • Epigenomics
  • Developmental Biology
  • DNA Copy Number Variations