Unknown

Dataset Information

0

Whole-exome sequencing of cell-free DNA and circulating tumor cells in multiple myeloma.

ABSTRACT: Liquid biopsies including circulating tumor cells (CTCs) and cell-free DNA (cfDNA) have enabled minimally invasive characterization of many cancers, but are rarely analyzed together. Understanding the detectability and genomic concordance of CTCs and cfDNA may inform their use in guiding cancer precision medicine. Here, we report the detectability of cfDNA and CTCs in blood samples from 107 and 56 patients with multiple myeloma (MM), respectively. Using ultra-low pass whole-genome sequencing, we find both tumor fractions correlate with disease progression. Applying whole-exome sequencing (WES) to cfDNA, CTCs, and matched tumor biopsies, we find concordance in clonal somatic mutations (~99%) and copy number alterations (~81%) between liquid and tumor biopsies. Importantly, analyzing CTCs and cfDNA together enables cross-validation of mutations, uncovers mutations exclusive to either CTCs or cfDNA, and allows blood-based tumor profiling in a greater fraction of patients. Our study demonstrates the utility of analyzing both CTCs and cfDNA in MM.

SUBMITTER: Manier S 

PROVIDER: S-EPMC5923255 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Liquid biopsies including circulating tumor cells (CTCs) and cell-free DNA (cfDNA) have enabled minimally invasive characterization of many cancers, but are rarely analyzed together. Understanding the detectability and genomic concordance of CTCs and cfDNA may inform their use in guiding cancer precision medicine. Here, we report the detectability of cfDNA and CTCs in blood samples from 107 and 56 patients with multiple myeloma (MM), respectively. Using ultra-low pass whole-genome sequencing, we  ...[more]

Similar Datasets

Unknown Concordance between whole exome sequencing of circulating tumor DNA and tumor tissue.
| S-EPMC10599540 | biostudies-literature
Unknown Monitoring multiple myeloma by next-generation sequencing of V(D)J rearrangements from circulating myeloma cells and cell-free myeloma DNA.
| S-EPMC5451343 | biostudies-literature
Unknown Analysis of the Whole-Exome Sequencing of Tumor and Circulating Tumor DNA in Metastatic Melanoma.
| S-EPMC6966626 | biostudies-literature
Unknown Whole-exome sequencing of circulating tumor cells provides a window into metastatic prostate cancer.
| S-EPMC4034575 | biostudies-literature
Unknown Matched Whole-Genome Sequencing (WGS) and Whole-Exome Sequencing (WES) of Tumor Tissue with Circulating Tumor DNA (ctDNA) Analysis: Complementary Modalities in Clinical Practice.
| S-EPMC6770276 | biostudies-literature
Unknown Quantifying tumor heterogeneity in whole-genome and whole-exome sequencing data.
| S-EPMC4253833 | biostudies-other
Unknown Whole-Exome Sequencing Reveals Clinical Potential of Circulating Tumor DNA from Peritoneal Fluid and Plasma in Endometrial Cancer.
| S-EPMC9139435 | biostudies-literature
Unknown Monitoring multiple myeloma in the peripheral blood based on cell-free DNA and circulating plasma cells.
| S-EPMC8913458 | biostudies-literature
Unknown Low Input Whole-Exome Sequencing to Determine the Representation of the Tumor Exome in Circulating DNA of Non-Small Cell Lung Cancer Patients.
| S-EPMC4987014 | biostudies-literature
Genomics CIDR: Whole Exome Sequencing of Multiple Myeloma
| PRJNA746363 | ENA