Treatment response and tumor evolution: lessons from an extended series of multianalyte liquid biopsies in a metastatic breast cancer patient.

Cold Spring Harbor Molecular Case Studies
Lisa WelterJames Hicks

Abstract

Currently, clinical characterization of metastatic breast cancer is based on tissue samples taken at time of diagnosis. However, tissue biopsies are invasive and tumors are continuously evolving, which indicates the need for minimally invasive longitudinal assessment of the tumor. Blood-based liquid biopsies provide minimal invasive means for serial sampling over the course of treatment and the opportunity to adjust therapies based on molecular markers. Here, we aim to identify cellular changes that occur in breast cancer over the lifespan of an affected patient through single-cell proteomic and genomic analysis of longitudinally sampled solid and liquid biopsies. Three solid and 17 liquid biopsies from peripheral blood of an ER+/HER2- metastatic breast cancer patient collected over 4 years and eight treatment regimens were analyzed for morphology, protein expression, copy-number alterations, and single-nucleotide variations. Analysis of 563 single morphometrically similar circulating tumor cells (CTCs) and 13 cell-free DNA (cfDNA) samples along with biopsies of the primary and metastatic tumor revealed progressive genomic evolution away from the primary tumor profiles, along with changes in ER expression and the appearance of ...Continue Reading

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Citations

May 18, 2021·Frontiers in Oncology·Anastasia P KovalDmitry S Shcherbo

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Methods Mentioned

BETA
biopsies
biopsy
blood draws
single-cell assay
blood draw
PCR
Illumina sequencing
DNA Assay
Assay
fluorescence microscopy

Software Mentioned

Integrative Genomics Viewer ( IGV )
QSVanalyzer
GATK
R
ggfortify
BWA MEM
Ion Reporter
ggplots

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