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Integrated genetic and epigenetic analysis of myxofibrosarcoma

Author

Listed:
  • Koichi Ogura

    (National Cancer Center Research Institute
    National Cancer Center Hospital
    The University of Tokyo)

  • Fumie Hosoda

    (National Cancer Center Research Institute)

  • Yasuhito Arai

    (National Cancer Center Research Institute)

  • Hiromi Nakamura

    (National Cancer Center Research Institute)

  • Natsuko Hama

    (National Cancer Center Research Institute)

  • Yasushi Totoki

    (National Cancer Center Research Institute)

  • Akihiko Yoshida

    (National Cancer Center Hospital)

  • Momoko Nagai

    (National Cancer Center Research Institute)

  • Mamoru Kato

    (National Cancer Center Research Institute)

  • Erika Arakawa

    (National Cancer Center Research Institute)

  • Wakako Mukai

    (National Cancer Center Research Institute)

  • Hirofumi Rokutan

    (National Cancer Center Research Institute)

  • Akira Kawai

    (National Cancer Center Hospital)

  • Sakae Tanaka

    (The University of Tokyo)

  • Tatsuhiro Shibata

    (National Cancer Center Research Institute
    The University of Tokyo)

Abstract

Myxofibrosarcoma (MFS) is a common adult soft tissue sarcoma characterized by an infiltrative growth pattern and a high local recurrence rate. Here we report the genetic and epigenetic landscape of MFS based on the results of whole-exome sequencing (N = 41), RNA sequencing (N = 29), and methylation analysis (N = 41), using 41 MFSs as a discovery set, and subsequent targeted sequencing of 140 genes in the entire cohort of 99 MFSs and 17 MFSs' data from TCGA. Fourteen driver genes are identified, including potentially actionable therapeutic targets seen in 37% of cases. There are frequent alterations in p53 signaling (51%) and cell cycle checkpoint genes (43%). Other conceivably actionable driver genes including ATRX, JAK1, NF1, NTRK1, and novel oncogenic BRAF fusion gene are identified. Methylation patterns cluster into three subtypes associated with unique combinations of driver mutations, clinical outcomes, and immune cell compositions. Our results provide a valuable genomic resource to enable the design of precision medicine for MFS.

Suggested Citation

  • Koichi Ogura & Fumie Hosoda & Yasuhito Arai & Hiromi Nakamura & Natsuko Hama & Yasushi Totoki & Akihiko Yoshida & Momoko Nagai & Mamoru Kato & Erika Arakawa & Wakako Mukai & Hirofumi Rokutan & Akira K, 2018. "Integrated genetic and epigenetic analysis of myxofibrosarcoma," Nature Communications, Nature, vol. 9(1), pages 1-11, December.
    • Handle: RePEc:nat:natcom:v:9:y:2018:i:1:d:10.1038_s41467-018-03891-9
    DOI: 10.1038/s41467-018-03891-9
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