Search

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. [ABSTRACT FROM AUTHOR]

Background:Comprehensive molecular characterization of cancer that has metastasized to bone has proved challenging, which may limit the diagnostic and potential therapeutic opportunities for patients with bone-only metastatic disease.Methods:We describe successful tissue acquisition, DNA extraction, and whole-exome sequencing from a bone metastasis of a patient with metastatic, castration-resistant prostate cancer (PCa).Results:The resulting high-quality tumor sequencing identified plausibly actionable somatic genomic alterations that dysregulate the phosphoinostide 3-kinase pathway, as well as a theoretically actionable germline variant in the BRCA2 gene.Conclusions:We demonstrate the feasibility of diagnostic bone metastases profiling and analysis that will be required for the widespread application of prospective 'precision medicine' to men with advanced PCa. [ABSTRACT FROM AUTHOR]

Biorepositories enable precision oncology research by sharing clinically annotated genomic data, but it remains unknown whether these data registries reflect the true distribution of cancers in racial and ethnic minorities. Our analysis of Project Genomics Evidence Neoplasia Information Exchange (GENIE), a real-world cancer data registry designed to accelerate precision oncology discovery, indicates that minorities do not have sufficient representation, which may impact the validity of studies directly comparing mutational profiles between racial/ethnic groups and limit generalizability of biomarker discoveries to all populations., (© 2023. The Author(s).)

Study Design: Retrospective, case-control study., Objectives: To report the effectiveness of transcranial motor evoked potentials (TcMEPs) in patients undergoing scoliosis surgery with neural axis abnormalities (NAAs)., Summary of Background Data: Transcranial motor evoked potentials are a safe and sensitive modality to identify impending spinal cord injury in adolescent idiopathic scoliosis (AIS). Previous studies have analyzed somatosensory evoked potentials (SSEPs) and neurogenic motor evoked potentials in NAA patients, but to our knowledge, no study has addressed the use of TcMEPs in these patients., Methods: We performed an institutional review board-approved retrospective review of a consecutive series of patients with NAA at a single institution and compared them with a consecutive series of AIS patients undergoing scoliosis surgery with spinal cord monitoring using TcMEP and SSEP. We compared the ability to obtain baseline data and the incidence of critical changes in TcMEPs and SSEPs between groups and examined a correlation with postoperative neurologic deficits., Results: We compared 38 patients with NAA (15 Chiari malformations, 12 syrinx, 7 tethered cords, and 4 spinal cord tumors) with 184 patients with AIS. The age was similar and preoperative curve magnitude was greater in the NAA group. Good baseline data were obtained less frequently in the NAA group for TcMEPs (94.7% vs. 100%; p < .001) and SSEPs (89.5% vs. 100%; p < .001). There was no statistical difference in critical deviation from baseline in the NAA group for TcMEPs (3 of 38 [7.9%] vs. 5 of 184 [2.7%]; p = .120) or SSEPs (0 of 38 vs. 3 of 184 [1.6%] (p = .430). There were no postoperative neurologic deficits in the NAA or AIS group., Conclusions: The ability to obtain baseline spinal cord monitoring in patients with NAA approaches that of an AIS group and accurately identifies impending neurologic deficits with high sensitivity. Surgeons should be confident that TcMEP baseline data can be obtained in patients with spinal cord pathology and should trust critical changes in TcMEPs intraoperatively to prevent spinal cord injury., (Copyright © 2013 Scoliosis Research Society. Published by Elsevier Inc. All rights reserved.)