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| Item Type: | Article |
|---|---|
| Title: | The landscape of genetic aberrations in myxofibrosarcoma |
| Creators Name: | Takeuchi, Y., Yoshida, K., Halik, A., Kunitz, A., Suzuki, H., Kakiuchi, N., Shiozawa, Y., Yokoyama, A., Inoue, Y., Hirano, T., Yoshizato, T., Aoki, K., Fujii, Y., Nannya, Y., Makishima, H., Pfitzner, B.M., Bullinger, L., Hirata, M., Jinnouchi, K., Shiraishi, Y., Chiba, K., Tanaka, H., Miyano, S., Okamoto, T., Haga, H., Ogawa, S. and Damm, F. |
| Abstract: | Myxofibrosarcoma (MFS) is a rare subtype of sarcoma, whose genetic basis is poorly understood. We analyzed 69 MFS cases using whole-genome (WGS), whole-exome (WES), and/or targeted-sequencing (TS). Newly sequenced genomic data were combined with additional deposited 116 MFS samples. WGS identified a high number of structural variations (SVs) per tumor most frequently affecting the TP53 and RB1 loci, 40% of tumors showed a BRCAness-associated mutation signature, and evidence of chromothripsis was found in all cases. Most frequently mutated /copy number altered genes affected known disease drivers such as TP53 (56.2%), CDKN2A/B (29.7%), RB1 (27.0%), ATRX (19.5%), and HDLBP (18.9%). Several previously unappreciated genetic aberrations including MUC17, FLG, and ZNF780A were identified in more than 20% of patients. Longitudinal analysis of paired diagnosis and relapse time points revealed a 1.2-fold mutation number increase accompanied with substantial changes in clonal composition over time. This study highlights the genetic complexity underlying sarcomagenesis of MFS. |
| Keywords: | Druggable Alterations, Genetics, Myxofibrosarcoma, Whole Genome/Exome/Targeted-Capture Sequence |
| Source: | International Journal of Cancer |
| ISSN: | 0020-7136 |
| Publisher: | Wiley |
| Volume: | 151 |
| Number: | 4 |
| Page Range: | 565-577 |
| Date: | 15 August 2022 |
| Official Publication: | https://doi.org/10.1002/ijc.34051 |
| PubMed: | View item in PubMed |
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