Circulating free DNA as non-invasive diagnostic biomarker for childhood solid tumors

Kurihara, Sho; Ueda, Yuka; Onitake, Yoshiyuki; Sueda, Taijiro; Ohta, Emi; Morihara, Nagisa; Hirano, Shoko; Irisuna, Fumiko; Hiyama, Eiso

doi:10.1016/j.jpedsurg.2015.08.033

Cited by 44 publications

(56 citation statements)

References 21 publications

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“…In conclusions, liquid biopsy analyses by NGS have been applied to several cancer types like hepatocellular carcinoma [278], gynaecological cancer [267], lung cancer [268,279], urinary tract cancer [271], paediatric oncology [280], gastrointestinal tumours [281] and other types, even through WES/WGS analyses [138,282]. This technique, without the need of an invasive biopsy from the diseased tissue, can help in early detection, monitoring for response to therapy, potential resistance to therapy, and can influence the choice for (alternative) therapy.…”

Section: Cancer Somatic Mutation Analysismentioning

confidence: 99%

Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification

Kamps

Brandão

Bosch

et al. 2017

IJMS

398

294

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Next-generation sequencing (NGS) technology has expanded in the last decades with significant improvements in the reliability, sequencing chemistry, pipeline analyses, data interpretation and costs. Such advances make the use of NGS feasible in clinical practice today. This review describes the recent technological developments in NGS applied to the field of oncology. A number of clinical applications are reviewed, i.e., mutation detection in inherited cancer syndromes based on DNA-sequencing, detection of spliceogenic variants based on RNA-sequencing, DNA-sequencing to identify risk modifiers and application for pre-implantation genetic diagnosis, cancer somatic mutation analysis, pharmacogenetics and liquid biopsy. Conclusive remarks, clinical limitations, implications and ethical considerations that relate to the different applications are provided.

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Section: Cancer Somatic Mutation Analysismentioning

confidence: 99%

Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification

Kamps

Brandão

Bosch

et al. 2017

IJMS

398

294

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“…The overall copy number profile can also be determined in cfDNA using different technologies such as commercially available platforms or low coverage whole-genome sequencing (WGS; refs. 10,17,18).…”

Section: Introductionmentioning

confidence: 99%

Whole-Exome Sequencing of Cell-Free DNA Reveals Temporo-spatial Heterogeneity and Identifies Treatment-Resistant Clones in Neuroblastoma

Chicard

Colmet‐Daage

Clément

et al. 2018

Clinical Cancer Research

130

152

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Purpose: Neuroblastoma displays important clinical and genetic heterogeneity, with emergence of new mutations at tumor progression.Experimental Design: To study clonal evolution during treatment and follow-up, an innovative method based on circulating cell-free DNA (cfDNA) analysis by whole-exome sequencing (WES) paired with target sequencing was realized in sequential liquid biopsy samples of 19 neuroblastoma patients.Results: WES of the primary tumor and cfDNA at diagnosis showed overlap of single-nucleotide variants (SNV) and copy number alterations, with 41% and 93% of all detected alterations common to the primary neuroblastoma and cfDNA. CfDNA WES at a second time point indicated a mean of 22 new SNVs for patients with progressive disease. Relapse-specific alterations included genes of the MAPK pathway and targeted the protein kinase A signaling pathway. Deep coverage target sequencing of intermediate time points during treatment and follow-up identified distinct subclones. For 17 seemingly relapse-specific SNVs detected by cfDNA WES at relapse but not tumor or cfDNA WES at diagnosis, deep coverage target sequencing detected these alterations in minor subclones, with relapse-emerging SNVs targeting genes of neuritogenesis and cell cycle. Furthermore a persisting, resistant clone with concomitant disappearance of other clones was identified by a mutation in the ubiquitin protein ligase HERC2.Conclusions: Modelization of mutated allele fractions in cfDNA indicated distinct patterns of clonal evolution, with either a minor, treatment-resistant clone expanding to a major clone at relapse, or minor clones collaborating toward tumor progression. Identification of treatment-resistant clones will enable development of more efficient treatment strategies. Clin Cancer Res; 1-11. Ó2017 AACR.

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“…However, there is abundant evidence that circulating tumor cells (CTCs) and/or cell‐free DNA (cfDNA) present in blood offer an opportunity to evaluate tumor biology noninvasively, even for brain tumors . In pediatric cancers, most evidence for CTCs and cfDNA has been in neuroblastoma and other solid tumors …”

Section: Future Directionsmentioning

confidence: 99%

Precision medicine in pediatric oncology: Lessons learned and next steps

Mody

Prensner

Everett

et al. 2016

Pediatric Blood & Cancer

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The maturation of genomic technologies has enabled new discoveries in disease pathogenesis as well as new approaches to patient care. In pediatric oncology, patients may now receive individualized genomic analysis to identify molecular aberrations of relevance for diagnosis and/or treatment. In this context, several recent clinical studies have begun to explore the feasibility and utility of genomics-driven precision medicine. Here, we review the major developments in this field, discuss current limitations, and explore aspects of the clinical implementation of precision medicine, which lack consensus. Lastly, we discuss ongoing scientific efforts in this arena, which may yield future clinical applications.

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Circulating free DNA as non-invasive diagnostic biomarker for childhood solid tumors

Cited by 44 publications

References 21 publications

Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification

Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification

Whole-Exome Sequencing of Cell-Free DNA Reveals Temporo-spatial Heterogeneity and Identifies Treatment-Resistant Clones in Neuroblastoma

Precision medicine in pediatric oncology: Lessons learned and next steps

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