Last Updated: November 02, 2017

Sample Collection Complete Data Publicly Available
Selected Selected

What is sarcoma?

The term “sarcoma” encompasses a broad family of rare cancers that can affect soft tissue or bone throughout the body, and sometimes both.1 Sarcoma cases constitute about 15 percent of all cancers in children, but are much rarer in adults and make up only about one percent of adult cancer cases.2

In 2012, it was estimated that about 11,280 Americans would be diagnosed with soft tissue sarcomas and that approximately one third of those people would not survive. In addition, an estimated 2,890 Americans would be diagnosed with bone sarcomas, and approximately half were not expected to survive.1

However, the exact number of people affected is unknown because sarcoma can be misdiagnosed due to being difficult to distinguish from other health problems. Plus, there are often few, if any, symptoms at early stages.1

TCGA focused its study on 6 sarcoma subtypes, including 5 with complex karyotypes:

  • dedifferentiated liposarcoma (DDLPS)
  • leiomyosarcoma (arising in both gynecologic and soft tissue sites) (LMS)
  • undifferentiated pleomorphic sarcoma (UPS)
  • myxofibrosarcoma (MFS)
  • malignant peripheral nerve sheath tumor (MPNST)

and one with simple karyotype:

  • synovial sarcoma (SS)

View additional information on soft tissue sarcoma.

Sarcoma is part of an effort to characterize rare tumor types. Read more about the Rare Tumor Projects.

The Cancer Genome Atlas (TCGA) researchers have:

  • Found few somatic mutations and numerous copy number changes to dominate complex karyotype sarcomas and gene fusions as a defining feature of the simple karyotype sarcoma.

    • TP53, ATRX, and RB1 were among the few genes recurrently mutated across sarcoma types.

    • Copy number alterations frequently occurred in complex karyotype sarcomas, affecting cell cycle and other pathways.

    • SS sarcomas expressed fusions in SSX1 or SSX2 genes and frequently also in TERT.

    • Mutational signatures found in sarcomas are novel, but contain elements of previously described patterns, including those resulting from clock-like mutational processes.

  • Investigated individual sarcoma types and uncovered a wide diversity of genomic and regulomic changes that associate with patient outcome.

    • For DDLPS, JUN amplification associates with worse survival and should be considered as a therapeutic target.

    • Gynecologic and soft tissue site subtypes of LMS are molecularly distinct enough to support different clinical approaches, but as a whole may benefit from inhibitors of the PI3K-AKT-mTOR pathway.

    • UPS and MFS are molecularly similar despite histological differences and may be driven by alterations in the Hippo pathway.

  • Found the level of immune infiltration associates differentially with patient outcome for different types of sarcoma.

    • Immune checkpoint inhibitors may be beneficial to certain sarcoma subtypes, such as UPS, MF5, and certain cases of DDPLS.

Learn more about TCGA's study of sarcoma.

Where can I find more information about the TCGA Research Network’s studies or studies using TCGA data?

View a list of TCGA scientific publications.

Where can I find clinical trials for sarcoma that are supported by the National Cancer Institute (NCI)?

View a list of NCI-supported adult soft tissue sarcoma and child soft tissue sarcoma clinical trials that are now accepting patients.

Selected References

1Soft Tissue Sarcoma - Patient Version. (accessed Nov 2017) National Cancer Institute. US Department of Health and Human Services.

2Sarcoma. (Dec 2011) American Society of Clinical Oncology.