Genomic and transcriptomic characterization of skull base chordoma

Jason K. Sa, In Hee Lee, Sang Duk Hong, Doo Sik Kong, Do Hyun Nam

Research output: Contribution to journalArticlepeer-review

14 Citations (Scopus)


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 languageEnglish
Pages (from-to)1321-1328
Number of pages8
Issue number1
Publication statusPublished - 2017
Externally publishedYes


  • Gene fusion
  • Genomic characterization
  • Skull base chordoma
  • T gene
  • Transcriptomic characterization

ASJC Scopus subject areas

  • Oncology


Dive into the research topics of 'Genomic and transcriptomic characterization of skull base chordoma'. Together they form a unique fingerprint.

Cite this