Clinical and molecular features of sacrum chordoma in Chinese patients.

ABSTRACT:

Background

Chordoma is a rare malignant bone tumor with high recurrence and metastasis rates. Little is known about the mutational process of this incurable disease. The aim of our research was to explore the potential driver genes and signal pathways in the pathogenesis of chordoma and provide a new idea for the study of molecular biological therapy of chordoma.

Methods

We performed whole-exome-sequencing (WES) on 8 sacrum chordoma tissue samples (matched to peripheral blood samples that had been drawn from patients before surgery) to identify genetic alterations in Chinese patients. We analyzed the sequencing data from known driver genes, pathway enrichment analysis and significantly mutated genes (SMGs) after quality control of sequencing, comparison of reference genomes,

SUBMITTER: Xu Z 

PROVIDER: S-EPMC8848402 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature