Comprehensive molecular and clinicopathological profiling of desmoid tumours
| Autor: | Kan Ito, Toshihide Ueno, Daisuke Matsubara, Yoshinao Oda, Shintaro Iwata, Hiroaki Hiraga, Teruya Kawamoto, Norifumi Naka, Masachika Ikegami, Shinji Kohsaka, Hiroshi Kobayashi, Koichi Ogura, Yoshiyuki Suehara, Tsukasa Yonemoto, Toru Motoi, Hiroyuki Mano, Tomotake Okuma, Makoto Hirata, Koichi Matsuda, Tomohisa Sakai, Yoshihiro Nishida, Akira Kawai, Shinya Kojima |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Oncology Adult Male Cancer Research medicine.medical_specialty Adolescent DNA Mutational Analysis Gene Dosage RNA-Seq medicine.disease_cause Mitochondrial Proteins 03 medical and health sciences Young Adult 0302 clinical medicine Internal medicine Gene expression Exome Sequencing medicine Biomarkers Tumor Humans Tokyo beta Catenin Aged Framingham Risk Score MARVEL Domain-Containing Proteins business.industry Gene Expression Profiling Hazard ratio Chromosome Middle Aged Prognosis Confidence interval Cysteine Endopeptidases Fibromatosis Aggressive 030104 developmental biology 030220 oncology & carcinogenesis Child Preschool Cohort Mutation Chromosomes Human Pair 6 Female Chemokines business Carcinogenesis Transcriptome |
| Zdroj: | European journal of cancer (Oxford, England : 1990). 145 |
| ISSN: | 1879-0852 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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