Mutation Detection in Tumor-Derived Cell Free DNA Anticipates Progression in a Patient With Metastatic Colorectal Cancer

Barros, Bruna Durães de Figueiredo; Kupper, Bruna Elisa Catin; Aguiar, Samuel; Mello, Celso Abdon Lopes de; Begnami, María Dirlei; Chojniak, Rubens; Souza, Sandro J. de; Torrezan, Giovana Tardin; Carraro, Dirce Maria

doi:10.3389/fonc.2018.00306

Cited by 8 publications

(6 citation statements)

References 30 publications

(35 reference statements)

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“…Another study applied a panel of ctDNA biomarkers (selected from tumor tissue analysis) in a patient with mCRC with first-line treatment with FOLFOX and second-line treatment with FOLFIRI (de Figueiredo Barros et al, 2018) and showed that the baseline sample had high frequency of KRAS and TP53 MAF which fell below the detection limit after one month of chemotherapy. A subsequent increase was associated with disease progression and resistance to therapy.…”

Section: Using Ctdna To Monitor Response To Systemic Therapymentioning

confidence: 99%

The Use of Circulating Tumor DNA to Monitor and Predict Response to Treatment in Colorectal Cancer

et al. 2019

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Background: Colorectal cancer is one of the most common cancers worldwide and has a high mortality rate following disease recurrence. Treatment efficacy is maximized by providing tailored cancer treatment, ideally involving surgical resection and personalized neoadjuvant and adjuvant therapies, including chemotherapy, radiotherapy and increasingly, targeted therapy. Early detection of recurrence or disease progression results in more treatable disease and is essential to improving survival outcomes. Recent advances in the understanding of tumor genetics have resulted in the discovery of circulating tumor DNA (ctDNA). A growing body of evidence supports the use of these sensitive biomarkers in detecting residual disease and diagnosing recurrence as well as enabling targeted and tumor-specific adjuvant therapies. Methods: A literature search in Pubmed was performed to identify all original articles preceding April 2019 that utilize ctDNA for the purpose of monitoring response to colorectal cancer treatment. Results: Ninety-two clinical studies were included. These studies demonstrate that ctDNA is a reliable measure of tumor burden. Studies show the utility of ctDNA in assessing the adequacy of surgical tumor clearance and changes in ctDNA levels reflect response to systemic treatments. ctDNA can be used in the selection of targeted treatments. The reappearance or increase in ctDNA, as well as the emergence of new mutations, correlates with disease recurrence, progression, and resistance to therapy, with ctDNA measurement allowing more sensitive monitoring than currently used clinical tools. Conclusions: ctDNA shows enormous promise as a sensitive biomarker for monitoring response to many treatment modalities and for targeting therapy. Thus, it is emerging as a new way for guiding treatment decisions—initiating, altering, and ceasing treatments, or prompting investigation into the potential for residual disease. However, many potentially useful ctDNA markers are available and more work is needed to determine which are best suited for specific purposes and for improving specific outcomes.

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Section: Using Ctdna To Monitor Response To Systemic Therapymentioning

confidence: 99%

The Use of Circulating Tumor DNA to Monitor and Predict Response to Treatment in Colorectal Cancer

et al. 2019

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“…Sin embargo, estudios recientes han descrito las ventajas de la detección de estas alteraciones en ctDNA postquirúrgico para definir los pacientes con mayor riesgo de recurrencia a quimioterapia adyuvante en estadios tempranos (98). En Latinoamérica, De Figueiredo et al realizaron un seguimiento a un paciente con adenocarcinoma metastásico en colon sigmoide analizando el ctDNA mediante biopsias líquidas seriadas y evidenciaron la correspondencia entre el perfil mutacional en tumor y en plasma, así como la predicción de la progresión de la enfermedad incluso antes de ser detectada mediante métodos imageneológicos (99).…”

Section: Prueba De Ctdna Para Diagnóstico Y Seguimiento En Cáncer Colorrectal (Ccr)unclassified

La biopsia líquida en el diagnóstico y monitoreo de pacientes oncológicos: oportunidades y retos en Latinoamérica

Pérdomo

Montealegre-Páez

Pacheco-Orozco

et al. 2020

Rev. colomb. cancerol.

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En los últimos años, el estudio de los ácidos nucleicos circulantes ha tenido grandes avances en el campo de la oncología, lo que ha permitido avanzar de forma importante en las aplicaciones clínicas de la biopsia liquida en diferentes aspectos como el pronóstico, la estadificación, la predicción de recurrencia, la selección y monitorización de tratamientos, entre otros. Lo anterior, se debe en gran parte al desarrollo de nuevas y mejores tecnologías, algunas de las cuales, incluso, han sido autorizadas para el diagnóstico y seguimiento de ciertos tipos de cáncer. No obstante, la utilización de biopsias líquidas sigue siendo objeto de estudio, pues a pesar de que son evidentes sus ventajas aun existen ciertas limitaciones que deben ser objeto de futuras investigaciones. Por lo tanto, debido a la importancia que ha cobrado este avance tecnológico a nivel mundial, se realizó una revisión de literatura con el fin de establecer el estado actual de la biopsia liquida en oncología, así como sus aplicaciones clínicas actuales, no sólo a nivel mundial sino también en Latinoamérica.

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“…This may provide an earlier measure of patient prognosis compared with imaging-based methods. [36][37][38] When a matched normal sample is not available, the VAF can give insight about the potential that an alteration is a germline mutation. 18 Also, an extremely low VAF may warrant additional confirmation of the alteration with orthogonal technologies, such as Sanger sequencing.…”

Section: Vaf and Cna Levelsmentioning

confidence: 99%

Operationalization of Next-Generation Sequencing and Decision Support for Precision Oncology

Zeng

Johnson

Shufean

et al. 2019

JCO Clinical Cancer Informatics

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Genomic testing has become a part of routine oncology care and plays critical roles in diagnosis, prognostic assessment, and treatment selection. Thus, in parallel, the variety of genomic testing providers and sequencing platforms has grown exponentially. Selection of the best-fit panel for each case can be daunting, with many factors to consider. Among them is whether alteration interpretation and therapy/clinical trial matching are included and/or sufficient. In this article, we review some common commercially available sequencing platforms for the genes and types of alterations tested, samples needed, and reporting content provided. We review publicly available resources for a do-it-yourself approach to alteration interpretation when it is not provided or when supplemental research is needed, along with resources to identify genomically matched treatment options that are approved and/or investigational. However, with both commercially provided interpretation and publicly available resources, there are still caveats and limitations that can stem from insufficient or ambiguous nomenclature as well as from the presentation of information. Use cases in which clinical decision making was affected are discussed. After treatment options are identified, it is important to assess the level of evidence for use within the patient’s tumor type and molecular profile. However, numerous level-of-evidence scales have been published in recent years, so we provide a publicly available tool to facilitate interoperability. The level of evidence, along with other factors, such as allelic frequency and copy number, can be used to prioritize treatment options when multiple are identified.

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Mutation Detection in Tumor-Derived Cell Free DNA Anticipates Progression in a Patient With Metastatic Colorectal Cancer

Cited by 8 publications

References 30 publications

The Use of Circulating Tumor DNA to Monitor and Predict Response to Treatment in Colorectal Cancer

The Use of Circulating Tumor DNA to Monitor and Predict Response to Treatment in Colorectal Cancer

La biopsia líquida en el diagnóstico y monitoreo de pacientes oncológicos: oportunidades y retos en Latinoamérica

Operationalization of Next-Generation Sequencing and Decision Support for Precision Oncology

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