The mutational landscape of spinal chordomas and their sensitive detection using circulating tumor DNA.

ABSTRACT:

Background

Chordomas are the most common primary spinal column malignancy in the United States. The aim of this study was to determine whether chordomas may be detected by evaluating mutations in circulating tumor DNA (ctDNA).

Methods

Thirty-two patients with a biopsy-confirmed diagnosis of chordoma had blood drawn pre-operatively and/or at follow-up appointments. Mutations in the primary tumor were identified by whole exome sequencing and liquid biopsy by ddPCR and/or RACE-Seq was used to detect one or more of these mutations in plasma ctDNA at concurrent or later time points.

Results

At the time of initial blood draw, 87.1% of patients were ctDNA positive (P <.001). Follow-up blood draws in twenty of the patients suggest that ctDNA levels may reflect the clin

SUBMITTER: Mattox AK 

PROVIDER: S-EPMC7850091 | biostudies-literature | 2021 Jan-Dec

REPOSITORIES: biostudies-literature