Tumor-Informed Versus Plasma-Only Liquid Biopsy Assay in a Patient With Multiple Primary Malignancies

Kasi, Pashtoon Murtaza

doi:10.1200/po.21.00298

Cited by 8 publications

(9 citation statements)

References 13 publications

(21 reference statements)

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“…To date, no comparative data are available on these two assays in terms of MRD detection sensitivity, but ongoing prospective trials will provide more information in this regard. 54 , 55 …”

Section: Discussionmentioning

confidence: 99%

Sequencing paired tumor DNA and white blood cells improves circulating tumor DNA tracking and detects pathogenic germline variants in localized colon cancer

Gimeno-Valiente,

Martín-Arana,

Tébar-Martínez

et al. 2023

ESMO Open

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“…To date, no comparative data are available on these two assays in terms of MRD detection sensitivity, but ongoing prospective trials will provide more information in this regard. 54 , 55 …”

Section: Discussionmentioning

confidence: 99%

Sequencing paired tumor DNA and white blood cells improves circulating tumor DNA tracking and detects pathogenic germline variants in localized colon cancer

Gimeno-Valiente,

Martín-Arana,

Tébar-Martínez

et al. 2023

ESMO Open

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“…Third, our specificity reached 92% as one sample from a patient with pancreatic cancer was also classified as colorectal cancer potentially due to overlap in methylation patterns between gastrointestinal cancers. 20 Although the observed specificity is relatively high, it may be arguably not high enough to bring this technology to clinical practice.…”

Section: Discussionmentioning

confidence: 99%

Mutation-Agnostic Detection of Colorectal Cancer Using Liquid Biopsy-Based Methylation-Specific Signatures

et al. 2022

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Detection of methylation patterns in circulating tumor DNA (ctDNA) can offer a novel approach for cancer diagnostics given the unique signature for each tumor type. We developed a next-generation sequencing (NGS)-based assay targeting 32 CpG sites to detect colorectal cancer-specific ctDNA. NGS was performed on bisulfite-converted libraries and status dichotomization was done using median methylation ratios at all targets. We included plasma samples from patients with metastatic colorectal (n = 20) and non-colorectal cancers (n = 8); and healthy volunteers (n = 4). Median methylation ratio was higher in colorectal cancer compared with non-colorectal cancers (P = .001) and normal donors (P = .005). The assay detected ctDNA in 85% of patients with colorectal cancer at a specificity of 92%. Notably, we were able to detect methylated ctDNA in 75% of patients in whom ctDNA was not detected by other methods. Detection of methylated ctDNA was associated with shorter median progression-free survival compared to non-detection (8 weeks versus 54 weeks; P = .027).

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“…Minimal residual disease (MRD) assays, which can be divided into (i) plasma-only and (ii) tumor-informed circulating tumor DNA (ctDNA) assays, are a recent development in cancer care [ 1 ]. Colorectal cancer has been the poster child in terms of the number and types of assays.…”

Section: Introductionmentioning

confidence: 99%

False-Positive Liquid Biopsy Assays Secondary to Overlapping Aberrant Methylation from Non-Cancer Disease States

Lutfi,

Afghan,

Swed

et al. 2023

Case Rep Oncol

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Introduction: Liquid biopsies are increasingly being adopted in the care of patients with cancer. Not only in patients with metastatic disease but the utility is also being recognized in earlier phases of the journey of a patient with cancer. More recently, methylated platforms are offering another lens of looking at the same question more so in minimal residual disease (MRD) and early detection settings. While false positives secondary to clonal hematopoiesis of indeterminate potential (CHIP) are recognized as one entity to consider when interpreting these assays, and advanced CHIP filtering bioinformatics platforms can prevent this, false positives secondary to aberrant methylation are not described. Case Presentation: Herein, we report a case of a patient with hepatitis C-related viremia and a very high viral load that had a false-positive plasma-only colorectal MRD assay. The colorectal MRD assay spontaneously cleared on hepatitis C virus therapy which led to clearance of the virus. Conclusion: As these assays are increasingly applied in real-world settings, it would be of value to consider non-cancer chronic disease states that may lead to aberrant methylation that could lead to a false-positive assay.

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Tumor-Informed Versus Plasma-Only Liquid Biopsy Assay in a Patient With Multiple Primary Malignancies

Cited by 8 publications

References 13 publications

Sequencing paired tumor DNA and white blood cells improves circulating tumor DNA tracking and detects pathogenic germline variants in localized colon cancer

Sequencing paired tumor DNA and white blood cells improves circulating tumor DNA tracking and detects pathogenic germline variants in localized colon cancer

Mutation-Agnostic Detection of Colorectal Cancer Using Liquid Biopsy-Based Methylation-Specific Signatures

False-Positive Liquid Biopsy Assays Secondary to Overlapping Aberrant Methylation from Non-Cancer Disease States

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