TP53 mutations as drivers of chordoma progression and hallmarks of aggressive chordoma.

ABSTRACT:

Introduction

Dedifferentiated (DC) and poorly differentiated chordomas (PDC) are rare, aggressive chordomas with a significantly worse prognosis than conventional chordomas (CC). The molecular mechanisms driving them remain poorly understood.

Methods

Matched primary CC and recurrent DC cryopreserved samples from one patient were analyzed with whole-exome sequencing (WES). Samples from three additional DCs and one PDC underwent targeted sequencing of cancer-related genes. Furthermore, 102 CC cases - 32 novel and 70 from literature, were analyzed. Functional and survival analysis was performed.

Results

WES revealed striking genomic changes during progression from CC to DC, with the number of somatic mutations increasing from 211 in primary to 430 in the recurrent DC; re

SUBMITTER: Baluszek S 

PROVIDER: S-EPMC12831397 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature