Comprehensive molecular and clinicopathological profiling of desmoid tumours

Shinji Kohsaka, Makoto Hirata, Masachika Ikegami, Toshihide Ueno, Shinya Kojima, Tomohisa Sakai, Kan Ito, Norifumi Naka, Koichi Ogura, Akira Kawai, Shintaro Iwata, Tomotake Okuma, Tsukasa Yonemoto, Hiroshi Kobayashi, Yoshiyuki Suehara, Hiroaki Hiraga, Teruya Kawamoto, Toru Motoi, Yoshinao Oda, Daisuke MatsubaraKoichi Matsuda, Yoshihiro Nishida, Hiroyuki Mano

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)


Previous studies have not clearly identified a prognostic factor for desmoid tumours (DT). Whole-exome sequencing (WES) and/or RNA sequencing (RNA-seq) were performed in 64 cases of DT to investigate the molecular profiles in combination with the clinicopathological characteristics. CTNNB1 mutations with specific hotspots were identified in 56 cases (87.5%). A copy number loss in chromosome 6 (chr6) was identified in 14 cases (21.9%). Clustering based on the mRNA expression profiles was predictive of the patients' prognoses. The risk score generated by the expression of a three-gene set (IFI6, LGMN, and CKLF) was a strong prognostic marker for recurrence-free survival (RFS) in our cohort. In risk groups stratified by the expression of IFI6, the hazard ratio for recurrence-free survival in the high-risk group relative to the low-risk group was 12.12 (95% confidence interval: 1.56–94.2; p = 8.0 × 106). In conclusion, CTNNB1 mutations and a chr6 copy number loss are likely the causative mutations underlying the tumorigenesis of DT while the gene expression profiles may help to differentiate patients who would be good candidates for wait-and-see management and those who might benefit from additional systemic or radiation therapies.

Original languageEnglish
Pages (from-to)109-120
Number of pages12
JournalEuropean Journal of Cancer
Publication statusPublished - Mar 2021

All Science Journal Classification (ASJC) codes

  • Oncology
  • Cancer Research


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