Abstract
Skull base chordoma is a primary rare malignant bone-origin tumor showing relatively slow growth pattern and locally destructive lesions, which can only be characterized by histologic components. There is no available prognostic or therapeutic biomarker to predict clinical outcome or treatment response and the molecular mechanisms underlying chordoma development still remain unexplored. Therefore, we sought out to identify novel somatic variations that are associated with chordoma progression and potentially employed as therapeutic targets. Thirteen skull base chordomas were subjected for whole-exome and/or whole-transcriptome sequencing. In process, we have identified chromosomal aberration in 1p, 7, 10, 13 and 17q, high frequency of functional germline SNP of the T gene, rs2305089 (P = 0.0038) and several recurrent alterations including MUC4, NBPF1, NPIPB15 mutations and novel gene fusion of SAMD5-SASH1 for the first time in skull base chordoma.
Original language | English |
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Pages (from-to) | 1321-1328 |
Number of pages | 8 |
Journal | Oncotarget |
Volume | 8 |
Issue number | 1 |
DOIs | |
Publication status | Published - 2017 |
Externally published | Yes |
Bibliographical note
Funding Information:This research was supported by the grant NRF-2015M3C9A1044522 of National Research Foundation funded by the Ministry of Science, ICT and Future Planning (MSIP) of Korea. Additional supports were from the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), funded by the Ministry of Health & Welfare, Republic of Korea. (HI14C3418)
Keywords
- Gene fusion
- Genomic characterization
- Skull base chordoma
- T gene
- Transcriptomic characterization
ASJC Scopus subject areas
- Oncology