Comparison of solid tissue sequencing and liquid biopsy accuracy in identification of clinically relevant gene mutations and rearrangements in lung adenocarcinomas

Lin, Lawrence Hsu; Allison, Douglas H R; Feng, Yang; Jour, George; Park, Kyung; Zhou, Fang; Moreira, André L.; Shen, Guomiao; Feng, Xiaojun; Sabari, Joshua K.; Velcheti, Vamsidhar; Snuderl, Matija; Cotzia, Paolo

doi:10.1038/s41379-021-00880-0

Cited by 27 publications

(25 citation statements)

References 28 publications

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“…Diagnostic tools for monitoring the molecular evolution through noninvasive techniques such as liquid biopsy are becoming accessible and will be a valuable tool for further improving personalized treatment in cancer. Especially, detection of molecular alterations utilizing ctDNA may be a viable approach for patients who do not have access to a tissue specimen or a high-quality biopsy ( 39 ). In a single-center analysis of 323 non–small cell lung cancer patients, 229 had concurrent plasma and tissue NGS or were unable to complete tissue testing.…”

Section: Clinical Utility Of Circulating Tumor Dna (Ctdna)mentioning

confidence: 99%

Circulating Tumor DNA and Minimal Residual Disease (MRD) in Solid Tumors: Current Horizons and Future Perspectives

Peng

Mei

et al. 2021

Front. Oncol.

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Circulating tumor DNA (ctDNA) is cell-free DNA (cfDNA) fragment in the bloodstream that originates from malignant tumors or circulating tumor cells. Recently, ctDNA has emerged as a promising non-invasive biomarker in clinical oncology. Analysis of ctDNA opens up new avenues for individualized cancer diagnosis and therapy in various types of tumors. Evidence suggests that minimum residual disease (MRD) is closely associated with disease recurrence, thus identifying specific genetic and molecular alterations as novel MRD detection targets using ctDNA has been a research focus. MRD is considered a promising prognostic marker to identify individuals at increased risk of recurrence and who may benefit from treatment. This review summarizes the current knowledge of ctDNA and MRD in solid tumors, focusing on the potential clinical applications and challenges. We describe the current state of ctDNA detection methods and the milestones of ctDNA development and discuss how ctDNA analysis may be an alternative for tissue biopsy. Additionally, we evaluate the clinical utility of ctDNA analysis in solid tumors, such as recurrence risk assessment, monitoring response, and resistance mechanism analysis. MRD detection aids in assessing treatment response, patient prognosis, and risk of recurrence. Moreover, this review highlights current advancements in utilizing ctDNA to monitor the MRD of solid tumors such as lung cancer, breast cancer, and colon cancer. Overall, the clinical application of ctDNA-based MRD detection can assist clinical decision-making and improve patient outcomes in malignant tumors.

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Section: Clinical Utility Of Circulating Tumor Dna (Ctdna)mentioning

confidence: 99%

Circulating Tumor DNA and Minimal Residual Disease (MRD) in Solid Tumors: Current Horizons and Future Perspectives

Peng

Mei

et al. 2021

Front. Oncol.

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“…A retrospective trial by Lin et al showed that, in lung adenocarcinoma, tissue-based NGS had significantly higher sensitivity than plasma-based NGS (94.9% vs. 52.6%, although not all patients in this setting were treatment naïve) [ 20 ], whereas Liebs et al found a concordance between tumor tissue and cfDNA of 63%, 55% and 11% in colorectal cancer, melanoma and head and neck squamous cell carcinoma [ 21 ]. Recently, Khatami, F. et al reported the importance of liquid biopsy in both diagnosis and prognosis.…”

Section: Discussionmentioning

confidence: 99%

Sorafenib in Metastatic Papillary Thyroid Carcinoma with BRAF K601E Mutation on Liquid Biopsy: A Case Report and Literature Review

et al. 2022

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Differentiated thyroid cancer (DTC) includes papillary and follicular carcinomas and is the most common type of thyroid cancer. The incidence of this cancer has increased in the last few years, and even if its prognosis is generally good for a subset of patients that does not respond to radioactive iodine (RAI) therapy, the prognosis is much worse: the median overall survival (OS) from discovery of metastasis is 3–5 years and the 10-year survival rate is only 10%. Several mutations, including RAS or RET, as well as BRAF signaling, are associated with thyroid cancer. Liquid biopsy may be useful in selected patient to identify genomic alterations and thus allowing for a precision medicine approach with target therapy. Sorafenib, an oral multi-kinase inhibitor, can be used in the treatment of DTC. Case presentation: A 77 years old. man with diagnosis of metastatic DTC and evidence of presence of mutation of BRAF K601E on liquid biopsy was treated with sorafenib, showing a good response to the treatment and an improvement in the quality of life (QoL). Currently, this patient is still on treatment with sorafenib, gaining control of a multi-metastatic disease, generally characterized by a very poor prognosis. In conclusion, sorafenib has an active role in the treatment of DTC. It also has been considered the standard of care for patients with advanced unresectable hepatocellular carcinoma (HCC) and renal cell carcinoma (RCC). In our case we observe the efficacy of using sorafenib in Papillary thyroid carcinoma (PTC) such as confirming both stable disease (SD) in the CT scan as clinical benefit with an increase in QoL. Therefore, use of sorafenib remains an important treatment option, even in case of BRAF mutation, despite a rapidly evolving treatment landscape. It also seems important to perform liquid biopsies, especially in patients in whom it is not possible to repeat a new tissue biopsy. Ongoing clinical trials continue to evaluate sorafenib in different settings, and in combination with other therapies in DTC and HCC.

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“…Liang et al showed that ctDNA detection via deep methylation sequencing paired with machine learning identified more patients with cancer compared to mutation sequencing analysis, highlighting detection of low tumor-derived signals ( Liang et al, 2021 ). However, in another study by Lin et al, solid tissue-NGS detection of clinically relevant genomic aberrations and therapeutic targets was more reliable than plasma-NGS ( Lin et al, 2021 ), thereby discouraging clinicians from making treatment decisions based on plasma-NGS alone. A previous limitation of high-throughput screening as a routine MRD diagnostic method in ALL is the tendency to amplify non-specific targets.…”

Section: Methods Of Circulating Tumor Dna Detectionmentioning

confidence: 99%

Circulating Tumor DNA in Pediatric Cancer

Doculara

Trahair

Bayat

et al. 2022

Front. Mol. Biosci.

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The measurement of circulating tumor DNA (ctDNA) has gained increasing prominence as a minimally invasive tool for the detection of cancer-specific markers in plasma. In adult cancers, ctDNA detection has shown value for disease-monitoring applications including tumor mutation profiling, risk stratification, relapse prediction, and treatment response evaluation. To date, there are ctDNA tests used as companion diagnostics for adult cancers and it is not understood why the same cannot be said about childhood cancer, despite the marked differences between adult and pediatric oncology. In this review, we discuss the current understanding of ctDNA as a disease monitoring biomarker in the context of pediatric malignancies, including the challenges associated with ctDNA detection in liquid biopsies. The data and conclusions from pediatric cancer studies of ctDNA are summarized, highlighting treatment response, disease monitoring and the detection of subclonal disease as applications of ctDNA. While the data from retrospective studies highlight the potential of ctDNA, large clinical trials are required for ctDNA analysis for routine clinical use in pediatric cancers. We outline the requirements for the standardization of ctDNA detection in pediatric cancers, including sample handling and reproducibility of results. With better understanding of the advantages and limitations of ctDNA and improved detection methods, ctDNA analysis may become the standard of care for patient monitoring in childhood cancers.

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Comparison of solid tissue sequencing and liquid biopsy accuracy in identification of clinically relevant gene mutations and rearrangements in lung adenocarcinomas

Cited by 27 publications

References 28 publications

Circulating Tumor DNA and Minimal Residual Disease (MRD) in Solid Tumors: Current Horizons and Future Perspectives

Circulating Tumor DNA and Minimal Residual Disease (MRD) in Solid Tumors: Current Horizons and Future Perspectives

Sorafenib in Metastatic Papillary Thyroid Carcinoma with BRAF K601E Mutation on Liquid Biopsy: A Case Report and Literature Review

Circulating Tumor DNA in Pediatric Cancer

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