Circulating tumor DNA: Where are we now? A mini review of the literature

Fortuna, Gliceida M Galarza; Dvir, Kathrin

doi:10.5306/wjco.v11.i9.723

Cited by 12 publications

(7 citation statements)

References 34 publications

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“…Chae ( 21 ) and Klempner ( 22 ) successfully tracked BRAF -mutation in blood and urine of two NEC-patients. Compared to traditional tissue biopsies, liquid biopsies may provide a more nuanced picture of the disease, while also being less invasive ( 26 – 29 ).…”

Section: Discussionmentioning

confidence: 99%

Genetics-guided therapy in neuroendocrine carcinoma: response to BRAF- and MEK-inhibitors

Falkman,

Sundin,

Skogseid

et al. 2024

ujms

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Background: Metastatic neuroendocrine carcinoma (NEC) is associated with short survival. Other than platinum-based chemotherapy, there is no clear standard regimen. Current guidelines suggest that combination treatment with BRAF-inhibitors should be considered for patients with BRAF V600E-mutated NEC. However, since only eight such patients have been reported in the literature, our object was to confirm the validity of this recommendation. Methods: This was a single-center retrospective cohort study conducted at Uppsala University Hospital. The included patients 1) had a histopathologically confirmed diagnosis of NEC, 2) were diagnosed between January 1st, 2018 and December 31st, 2023, 3) had tumor tissue genetically screened by a broad next-generation sequencing (NGS) panel, and 4) showed a tumor mutation for which there is a currently available targeted therapy. Results: We screened 48 patients diagnosed with NEC between January 1st, 2018 and December 31st, 2023. Twelve had been analyzed with a broad NGS-panel, and two had a targetable mutation. Both these patients harbored a BRAF V600E-mutated colon-NEC and were treated with BRAF- and MEK-inhibitors dabrafenib and trametinib in second-line. At first radiological evaluation (RECIST 1.1), both patients had a reduction of tumor size, which decreased by 31 and 40%. Both had short response periods, and their overall survival was 12 and 9 months. Conclusions: BRAF-mutated NEC is sensitive to treatment with BRAF- and MEK-inhibitor combination. These results further support that DNA sequencing should be considered as standard of care in NECs to screen for potential treatment targets.

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Section: Discussionmentioning

confidence: 99%

Genetics-guided therapy in neuroendocrine carcinoma: response to BRAF- and MEK-inhibitors

Falkman,

Sundin,

Skogseid

et al. 2024

ujms

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“…Liquid biopsy may facilitate tumor understanding and management by an earlier detection and improved characterization of a tumor beyond the aforementioned limitations of classic biopsy. It may help establish a tailored therapy approach, and may accurately predict response and toxicity related to therapy [ 62 , 63 ].…”

Section: Methodsmentioning

confidence: 99%

The Challenge of Evaluating Response to Peptide Receptor Radionuclide Therapy in Gastroenteropancreatic Neuroendocrine Tumors: The Present and the Future

et al. 2020

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The NETTER-1 study has proven peptide receptor radionuclide therapy (PRRT) to be one of the most effective therapeutic options for metastatic neuroendocrine tumors (NETs), improving progression-free survival and overall survival. However, PRRT response assessment is challenging and no consensus on methods and timing has yet been reached among experts in the field. This issue is owed to the suboptimal sensitivity and specificity of clinical biomarkers, limitations of morphological response criteria in slowly growing tumors and necrotic changes after therapy, a lack of standardized parameters and timing of functional imaging and the heterogeneity of PRRT protocols in the literature. The aim of this article is to review the most relevant current approaches for PRRT efficacy prediction and response assessment criteria in order to provide an overview of suitable tools for safe and efficacious PRRT.

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“…Although focused methods such as NGS, BEAMing, and dPCR have improved the sensitivity of detecting low-frequency changes in ctDNA, the lack of standards for the best DNA extraction precludes their use in clinical procedures. 261 Miniaturization of these procedures into a single device will allow for simpler and faster isolation of nucleic acids. Microfluidic systems allow for fluid manipulation at a micrometer scale, potentiating detection at the single molecule level (Figure 4).…”

Section: Microfluidics-based Ctdna Analysismentioning

confidence: 99%

Advances in novel strategies for isolation, characterization, and analysis of CTCs and ctDNA

Yaghoubi Naei,

Bordhan,

Mirakhorli

et al. 2023

Ther Adv Med Oncol

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Over the past decade, the detection and analysis of liquid biopsy biomarkers such as circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA) have advanced significantly. They have received recognition for their clinical usefulness in detecting cancer at an early stage, monitoring disease, and evaluating treatment response. The emergence of liquid biopsy has been a helpful development, as it offers a minimally invasive, rapid, real-time monitoring, and possible alternative to traditional tissue biopsies. In resource-limited settings, the ideal platform for liquid biopsy should not only extract more CTCs or ctDNA from a minimal sample volume but also accurately represent the molecular heterogeneity of the patient’s disease. This review covers novel strategies and advancements in CTC and ctDNA-based liquid biopsy platforms, including microfluidic applications and comprehensive analysis of molecular complexity. We discuss these systems’ operational principles and performance efficiencies, as well as future opportunities and challenges for their implementation in clinical settings. In addition, we emphasize the importance of integrated platforms that incorporate machine learning and artificial intelligence in accurate liquid biopsy detection systems, which can greatly improve cancer management and enable precision diagnostics.

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Circulating tumor DNA: Where are we now? A mini review of the literature

Cited by 12 publications

References 34 publications

Genetics-guided therapy in neuroendocrine carcinoma: response to BRAF- and MEK-inhibitors

Genetics-guided therapy in neuroendocrine carcinoma: response to BRAF- and MEK-inhibitors

The Challenge of Evaluating Response to Peptide Receptor Radionuclide Therapy in Gastroenteropancreatic Neuroendocrine Tumors: The Present and the Future

Advances in novel strategies for isolation, characterization, and analysis of CTCs and ctDNA

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