4.5 Article

Clinical implementation of plasma cell-free circulating tumor DNA quantification by digital droplet PCR for the monitoring of Ewing sarcoma in children and adolescents

Related references

Note: Only part of the references are listed.
Article Oncology

Circulating tumour DNA sequencing to determine therapeutic response and identify tumour heterogeneity in patients with paediatric solid tumours

Reda Stankunaite et al.

Summary: This study developed a clinically relevant NGS capture panel and workflow for detecting low frequency genetic variants in cell-free DNA from children with solid tumors. The method showed high sensitivity, specificity, repeatability, and reproducibility. The potential for clinical application was demonstrated in childhood cancer patients, with a close correlation between cfDNA events and treatment response observed.

EUROPEAN JOURNAL OF CANCER (2022)

Article Oncology

Is Detection of Relapse by Surveillance Imaging Associated With Longer Survival in Patients With Rhabdomyosarcoma?

Stephanie Fetzko et al.

Summary: This study investigated the impact of surveillance imaging on post-relapse survival in patients with rhabdomyosarcoma. The results were inconclusive, suggesting the need for larger studies to provide more definitive conclusions on whether surveillance imaging provides survival benefit.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (2022)

Review Oncology

Hallmarks of Cancer: New Dimensions

Douglas Hanahan

Summary: The concept of the hallmarks of cancer is a tool for simplifying the complexity of cancer phenotypes and genotypes into basic principles. This article proposes phenotypic plasticity and disrupted differentiation as distinct hallmark capabilities, and discusses nonmutational epigenetic reprogramming and polymorphic microbiomes as enabling characteristics. Additionally, the importance of senescent cells in the tumor microenvironment is highlighted. The integrative concept of the hallmarks of cancer helps in understanding the mechanisms of cancer development and applying that knowledge to cancer medicine.

CANCER DISCOVERY (2022)

Review Genetics & Heredity

Therapeutic and prognostic insights from the analysis of cancer mutational signatures

Samuel W. Brady et al.

Summary: Somatic mutations in cancer genomes are caused by multiple mutational processes, each leaving a characteristic imprint. Decoding these imprints can provide insights into the evolutionary history of tumors. Mutational signatures can also offer therapeutic and prognostic insights, acting as biomarkers for drug response and prognosis. Additionally, therapy-induced mutational signatures have been associated with cancer progression.

TRENDS IN GENETICS (2022)

Review Oncology

Clinical relevance of blood-based ctDNA analysis: mutation detection and beyond

Laura Keller et al.

Summary: Cell-free DNA derived from tumors can be detected in the plasma of cancer patients, and significant progress has been made in the detection of mutations in circulating tumor DNA. In addition to mutation detection, cfDNA can be used to analyze other features of DNA, providing new avenues for liquid biopsy analysis.

BRITISH JOURNAL OF CANCER (2021)

Review Oncology

Fusion genes as biomarkers in pediatric cancers: A review of the current state and applicability in diagnostics and personalized therapy

Neetha Nanoth Vellichirammal et al.

Summary: Pediatric cancers exhibit diverse molecular characteristics and distinct subtypes, leading to a shift towards utilizing next-generation sequencing methods for better characterization. Early identification and personalized treatment strategies significantly impact therapeutic outcomes, survival, and quality of life in pediatric cancer patients.

CANCER LETTERS (2021)

Article Biotechnology & Applied Microbiology

Evaluating the analytical validity of circulating tumor DNA sequencing assays for precision oncology

Ira W. Deveson et al.

Summary: This study evaluated the performance of five industry-leading ctDNA assays and found that all assays showed high sensitivity, precision, and reproducibility above 0.5% variant allele frequency. However, below this limit, detection became unreliable, especially when input material was limited. The key challenge for ctDNA assays is the reliable sampling of rare ctDNA fragments, with missed mutations being more common than erroneous candidates.

NATURE BIOTECHNOLOGY (2021)

Article Oncology

Quantification of Translocation-Specific ctDNA Provides an Integrating Parameter for Early Assessment of Treatment Response and Risk Stratification in Ewing Sarcoma

Manuela Krumbholz et al.

Summary: The study demonstrated that ctDNA copy number in the plasma of patients with EWS is associated with event-free and overall survival, serving as a quantifiable parameter for early risk stratification and as a dynamic noninvasive biomarker for early prediction of treatment response and outcome.

CLINICAL CANCER RESEARCH (2021)

Article Multidisciplinary Sciences

Multimodal analysis of cell-free DNA whole-genome sequencing for pediatric cancers with low mutational burden

Peter Peneder et al.

Summary: The study introduces an integrated genetic/epigenetic analysis method for liquid biopsy of pediatric tumors with few genetic aberrations. The LIQUORICE algorithm is developed for detecting and classifying circulating tumor DNA based on cancer-specific chromatin signatures. The research highlights the potential value of cfDNA fragmentation patterns as prognostic biomarkers in Ewing sarcoma and makes liquid biopsy benefits more accessible for childhood cancers.

NATURE COMMUNICATIONS (2021)

Review Biochemistry & Molecular Biology

Liquid Biopsies in Sarcoma Clinical Practice: Where Do We Stand?

Pia van der Laan et al.

Summary: Sarcomas, rare tumors with high heterogeneity, present an opportunity for liquid biopsy as a promising diagnostic tool; however, there are technical challenges that need to be addressed in order to implement this method effectively in clinical practice.

BIOMEDICINES (2021)

Review Biochemistry & Molecular Biology

Circulating cell-free tumor DNA analysis in pediatric cancers

Daniel Andersson et al.

MOLECULAR ASPECTS OF MEDICINE (2020)

Article Biochemistry & Molecular Biology

The Circulating Nucleic Acid Characteristics of Non-Metastatic Soft Tissue Sarcoma Patients

Nicholas Eastley et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

Article Multidisciplinary Sciences

Partner independent fusion gene detection by multiplexed CRISPR-Cas9 enrichment and long read nanopore sequencing

Christina Stangl et al.

NATURE COMMUNICATIONS (2020)

Article Biotechnology & Applied Microbiology

CICERO: a versatile method for detecting complex and diverse driver fusions using cancer RNA sequencing data

Liqing Tian et al.

GENOME BIOLOGY (2020)

Review Multidisciplinary Sciences

The genomic landscape of pediatric cancers: Implications for diagnosis and treatment

E. Alejandro Sweet-Cordero et al.

SCIENCE (2019)

Review Oncology

Progress toward liquid biopsies in pediatric solid tumors

Daniel A. Weiser et al.

CANCER AND METASTASIS REVIEWS (2019)

Review Genetics & Heredity

Current and future perspectives of liquid biopsies in genomics-driven oncology

Ellen Heitzer et al.

NATURE REVIEWS GENETICS (2019)

Article Biochemistry & Molecular Biology

SvABA: genome-wide detection of structural variants and indels by local assembly

Jeremiah A. Wala et al.

GENOME RESEARCH (2018)

Article Multidisciplinary Sciences

The landscape of genomic alterations across childhood cancers

Susanne N. Groebner et al.

NATURE (2018)

Article Multidisciplinary Sciences

Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors

Nathaniel D. Anderson et al.

SCIENCE (2018)

Article Biochemistry & Molecular Biology

Comprehensive Analysis of Hypermutation in Human Cancer

Brittany B. Campbell et al.

Article Multidisciplinary Sciences

A spatial model predicts that dispersal and cell turnover limit intratumour heterogeneity

Bartlomiej Waclaw et al.

NATURE (2015)

Article Multidisciplinary Sciences

Mutational heterogeneity in cancer and the search for new cancer-associated genes

Michael S. Lawrence et al.

NATURE (2013)

Review Biochemistry & Molecular Biology

Hallmarks of Cancer: The Next Generation

Douglas Hanahan et al.

Letter Biotechnology & Applied Microbiology

Integrative genomics viewer

James T. Robinson et al.

NATURE BIOTECHNOLOGY (2011)

Article Oncology

Primary Disseminated Multifocal Ewing Sarcoma: Results of the Euro-EWING 99 Trial

Ruth Ladenstein et al.

JOURNAL OF CLINICAL ONCOLOGY (2010)