The Desmoid Tumor Research Foundation

January 2021

Comprehensive molecular and clinicopathological profiling of desmoid tumours [Full Article]

Author Information

Kohsaka S(1), Hirata M2), Ikegami M(1), Ueno T1), Kojima S(1), Sakai T(3), Ito K(3), Naka N(4), Ogura K5), Kawai A(5), Iwata S(5,6), Okuma T(7), Yonemoto T(6), Kobayashi H(8), Suehara Y(9), Hiraga H(10), Kawamoto T(11), Motoi T(12), Oda Y(13), Matsubara D(14), Matsuda K(2), Nishida Y(3), Mano H(1).

(1)Division of Cellular Signaling, National Cancer Center Research Institute, Tokyo, Japan. (2)Laboratory of Genome Technology, Human Genome Center, Institute of Medical Science, The Univ of Tokyo, Tokyo, Japan. (3)Dept of Orthopaedic Surgery, Nagoya Univ Hospital, Nagoya, Japan. (4)Musculoskeletal Oncology Service, Osaka International Cancer Institute, Osaka, Japan. (5)Dept of Musculoskeletal Oncology, National Cancer Center Hospital, Tokyo, Japan. (6)Division of Orthopaedic Surgery, Chiba Cancer Center, Chiba, Japan. (7)Dept of Muscloskeletal Oncology, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan. (8)Dept of Orthopaedic Surgery, Faculty of Medicine, The Univ of Tokyo, Tokyo, Japan. (9)Dept of Orthopedic Surgery, Juntendo Univ, Graduate School of Medicine, Tokyo, Japan. (10)Dept of Orthopaedic Surgery, Hokkaido Cancer Center, Sapporo, Japan. (11)Dept of Orthopaedic Surgery, Kobe Univ Graduate School of Medicine, Kobe, Japan. (12)Dept of Pathology, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan. (13)Dept of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu Univ, Fukuoka, Japan. (14)Division of Integrative Pathology, Jichi Medical Univ, Shimotsuke, Japan.

Publication

Eur J Cancer

Summary

Whole-exome sequencing (WES) and/or RNA sequencing (RNA-seq) were performed in 64 cases of desmoid tumours (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 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.

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