Detection of ctDNA in the plasma of patients with papillary thyroid carcinoma

Li, Huiqiang; Zhao, Jiangman; Zhang, Jianhua; Wang, Congren; Li, Mingzhu; Wu, Shouxin; Su, Zijian; Qin, Pan

doi:10.3892/etm.2019.7997

Cited by 6 publications

(11 citation statements)

References 37 publications

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“…In the current study, by using a combination of microfluidic digital PCR and COLD-PCR techniques, we showed that the detection of cf BRAFV600E in liquid biopsy has a lower performance as compared to BRAFV600E testing in thyroid tissue samples. These results are consistent with the previously published analyses of cf BRAFV600E in liquid biopsy samples from patients with thyroid tumors [ 34 , 35 , 36 ]. These findings suggest that molecular testing from liquid biopsy samples in patients with thyroid nodules cannot substitute for fine-needle aspiration biopsy.…”

Section: Discussionsupporting

confidence: 93%

Detection of BRAFV600E in Liquid Biopsy from Patients with Papillary Thyroid Cancer Is Associated with Tumor Aggressiveness and Response to Therapy

Jensen

Thakur

Patel

et al. 2020

JCM

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The detection of rare mutational targets in plasma (liquid biopsy) has emerged as a promising tool for the assessment of patients with cancer. We determined the presence of cell-free DNA containing the BRAFV600E mutations (cfBRAFV600E) in plasma samples from 57 patients with papillary thyroid cancer (PTC) with somatic BRAFV600E mutation-positive primary tumors using microfluidic digital PCR, and co-amplification at lower denaturation temperature (COLD) PCR. Mutant cfBRAFV600E alleles were detected in 24/57 (42.1%) of the examined patients. The presence of cfBRAFV600E was significantly associated with tumor size (p = 0.03), multifocal patterns of growth (p = 0.03), the presence of extrathyroidal gross extension (p = 0.02) and the presence of pulmonary micrometastases (p = 0.04). In patients with low-, intermediate- and high-risk PTCs, cfBRAFV600E was detected in 4/19 (21.0%), 8/22 (36.3%) and 12/16 (75.0%) of cases, respectively. Patients with detectable cfBRAFV600E were characterized by a 4.68 times higher likelihood of non-excellent response to therapy, as compared to patients without detectable cfBRAFV600E (OR (odds ratios), 4.68; 95% CI (confidence intervals)) 1.26–17.32; p = 0.02). In summary, the combination of digital polymerase chain reaction (dPCR) with COLD-PCR enables the detection of BRAFV600E in the liquid biopsy from patients with PTCs and could prove useful for the identification of patients with PTC at an increased risk for a structurally or biochemically incomplete or indeterminate response to treatment.

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Section: Discussionsupporting

confidence: 93%

Detection of BRAFV600E in Liquid Biopsy from Patients with Papillary Thyroid Cancer Is Associated with Tumor Aggressiveness and Response to Therapy

Jensen

Thakur

Patel

et al. 2020

JCM

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“…In the rest 5 studies, 3 studies by García-Romero et al, [ 46 ] Li et al, [ 47 ] and Tang et al [ 48 ] used QuantStudio TM 3D digital PCR system (ThermoFisher Scientific), and the calculated sensitivity was 25.0%, 61.5%, and 76.0%, respectively. The specificity was 77.8%, 90.9%, and 28.6%, with concordance rate at 61.5%, 78.0%, and 70.2%, respectively.…”

Section: Resultsmentioning

confidence: 99%

“…[69] Since the study by Esagian et al only involved studies using NGS as the detection method and did not report sensitivity and specificity, [69] it is difficult to compare their results with findings of our meta-analysis. Gupta et al, 2020 [15] Unclear Unclear Unclear Unclear Low Low Low Tzanikou et al, 2020 [16] Unclear Unclear Unclear Unclear Unclear Low Low Nguyen et al, 2020 [26] Unclear Unclear Unclear Unclear Low Unclear Low García-Romero et al, 2019 [46] Unclear Unclear Unclear Unclear Unclear Low Low Maurel et al, 2019 [51] Low Unclear Unclear Unclear Low Unclear Low Wong et al, 2017 [32] Unclear Unclear Unclear Unclear Low Unclear Low Iyer et al, 2018 [19] Unclear Unclear Unclear Unclear Low Low Low Diefenbach et al, 2019 [27] Unclear Unclear Unclear Unclear Low Unclear Low Li et al, 2019 [47] Unclear Unclear Unclear Unclear Low Unclear Low Choi et al, 2019 [20] Low Unclear Unclear Unclear Low Unclear Low Sakai et al, 2015 [33] Unclear Unclear Unclear Unclear Low Low Low Lin et al, 2014 [17] Unclear Unclear Unclear Low Low Unclear Low Spindler et al, 2013 [55] Unclear Unclear Unclear Unclear Low Unclear Low Leighl et al, 2019 [21] Unclear Unclear Unclear Low Low Unclear Low Mas et al, 2019 [28] Low Low Low Unclear Low Low Low Haselmann et al, 2018 [49] Low Low Low Unclear Low Low Low Liebs et al, 2019 [39] Unclear Unclear Unclear Low Low Low Low Tang et al, 2018 [48] Unclear Unclear Unclear Unclear Low Unclear Low Mohrmann et al, 2018 [40] Low Unclear Unclear Unclear Low Unclear Low Gangadhar et al, 2018 [34] Unclear Low Unclear High Low Low Low Long-Mira et al, 2018 [52] Low Unclear Low Unclear Low Low Low Sclafani et al, 2018 [41] Low Low Low Unclear Low Low Low Thierry et al, 2017 [63] Low Low Low Unclear Low Low Low Mithraprabhu et al, 2017 [30] Low Unclear Unclear Unclear Low Unclear Low Sandulache et al, 2017 [22] Low Unclear Unclear Low Low Low Low Wang et al, 2017 [35] Unclear Unclear Unclear Unclear Low Unclear Low Yang et al, 2017 [65] Unclear Unclear Un...…”

Section: Discussionmentioning

confidence: 99%

“…In the 53 eligible studies, 21 studies used next-generation sequencing (NGS) to test BRAF mutation in plasma sample, while this number was 13 for digital PCR, 16 for conventional PCR, and 3 for MassARRAY (Table 1). For the testing of BRAF mutation in paired tissue sample, more than half (30 out of 53) Gupta et al, 2020 [15] 75 Colorectal cancer NGS NGS America Tzanikou et al, 2020 [16] 34 Melanoma Digital PCR Sanger sequencing Europe Nguyen et al, 2020 [26] 50 Colorectal cancer NGS NGS Asia García-Romero et al, 2019 [46] 13 Central nervous system tumors Digital PCR Sanger sequencing Europe Maurel et al, 2019 [51] 178 Colorectal cancer PCR PCR Europe Wong et al, 2017 [32] 52 Melanoma NGS NGS Australia Iyer et al, 2018 [19] 44 Thyroid carcinoma NGS NGS America Diefenbach et al, 2019 [27] 10 Melanoma NGS NGS Australia Li et al, 2019 [47] 59 Thyroid carcinoma Digital PCR Digital PCR Asia Choi et al, 2019 [20] 61 Colorectal cancer NGS NGS America Sakai et al, 2015 [33] 15 Colorectal cancer NGS NGS Asia Lin et al, 2014 [17] 191 Colorectal cancer MassARRAY MassARRAY Asia Spindler et al, 2013 [55] 94 Colorectal cancer PCR PCR Europe Leighl et al, 2019 [21] 92 Lung cancer NGS Standard of care America Mas et al, 2019 [28] 405 Colorectal cancer NGS Standard of care Europe Haselmann et al, 2018 [49] 187 Melanoma Digital PCR Sanger sequencing Europe Liebs et al, 2019 [39] 53 Colorectal cancer Digital PCR Digital PCR Europe Tang et al, 2018 [48] 57 Melanoma Digital PCR Standard of care Asia Mohrmann et al, 2018 [40] 41 Mixed type Digital PCR Standard of care America Gangadhar et al, 2018 [34] 25 Melanoma NGS NGS America Long-Mira et al, 2018 [52] 19 Melanoma PCR Pyrosequencing Europe Sclafani et al, 2018 [41] 97 Colorectal cancer Digital PCR PCR Europe Thierry et al, 2017 [63] 97 Colorectal cancer PCR Standard of care Europe Mithraprabhu et al, 2017 [30] 48 Multiple myeloma NGS NGS Australia Sandulache et al, 2017 [22] 23 Thyroid carcinoma NGS NGS America Wang et al, 2017 [35] 103 Lung cancer NGS PCR Asia Yang et al, 2017 [65] 107 Lung cancer PCR PCR Asia Kidess-Sigal et al, ...…”

Section: Review Of Eligible Publicationsmentioning

confidence: 99%

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Reliability of BRAF mutation detection using plasma sample

Cai

Xie

et al. 2021

Medicine

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Background: Testing of B-Raf proto-oncogene ( BRAF ) mutation in tumor is necessary before targeted therapies are given. When tumor samples are not available, plasma samples are commonly used for the testing of BRAF mutation. The aim of this study was to investigate the diagnostic accuracy of BRAF mutation testing using plasma sample of cancer patients. Methods: Databases of Pubmed, Embase, and Cochrane Library were searched for eligible studies investigating BRAF mutation in paired tissue and plasma samples of cancer patients. A total of 798 publications were identified after database searching. After removing 229 duplicated publications, 569 studies were screened using the following exclusion criteria: (1) BRAF mutation not measured in plasma or in tumor sample; (2) lacking BRAF -wildtype or BRAF -mutated samples; (3) tissue and plasma samples not paired; (4) lacking tumor or plasma samples; (5) not plasma sample; (6) not cancer; (7) un-interpretable data. Accuracy data and relevant information were extracted from each eligible study by 2 independent researchers and analyzed using statistical software. Results: After pooling the accuracy data from 3943 patients of the 53 eligible studies, the pooled sensitivity, specificity, and diagnostic odds ratio of BRAF mutation testing using plasma sample were 69%, 98%, and 55.78, respectively. Area under curve of summary receiver operating characteristic curve was 0.9435. Subgroup analysis indicated that BRAF mutation testing using plasma had overall higher accuracy (diagnostic odds ratio of 89.17) in colorectal cancer, compared to melanoma and thyroid carcinoma. In addition, next-generation sequencing had an overall higher accuracy in detecting BRAF mutation using plasma sample (diagnostic odds ratio of 63.90), compared to digital polymerase chain reaction (PCR) and conventional PCR, while digital PCR showed the highest sensitivity (74%) among the 3 techniques. Conclusion: BRAF testing using plasma sample showed an overall high accuracy compared to paired tumor tissue sample, which could be used for cancer genotyping when tissue sample is not available. Large prospective studies are needed to further investigate the accuracy of BRAF mutation testing in plasma sample.

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“…Lan et al [ 93 ] discovered that the ctDNA detection rate in PTC with DM was substantially higher than in PTC without DM, and the detection rate was associated with invasiveness and tumor size. Li et al [ 94 ] found 44.07% of thyroid tumors were BRAF-V600E ctDNA-positive (with sensitivity 61.54%, specificity 90.91%), suggesting that the application of ctDNA to thyroid nodule detection is critical. Recently, a study by Sandulache et al [ 95 ] demonstrated a 100 percent correlation between BRAFV600E identification in primary tumors and plasmids.…”

Section: Ctdna and Its Clinical Applicationsmentioning

confidence: 99%

CTC, ctDNA, and Exosome in Thyroid Cancers: A Review

Wang,

Zheng,

Lei

2023

IJMS

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Thyroid cancer has become more common in recent years all around the world. Many issues still need to be urgently addressed in the diagnosis, treatment, and prognosis of thyroid cancer. Liquid biopsy (mainly circulating tumor DNA (ctDNA), circulating tumor cells (CTCs), and circulating exosomes) may provide a novel and ideal approach to solve these issues, allows us to assess the features of diseases more comprehensively, and has a function in a variety of malignancies. Recently, liquid biopsy has been shown to be critical in thyroid cancer diagnosis, treatment, and prognosis in numerous previous studies. In this review, by testing CTCs, ctDNA, and exosomes, we focus on the possible clinical role of liquid biopsy in thyroid cancer, including diagnostic and prognostic biomarkers and response to therapy. We briefly review how liquid biopsy components have progressed in thyroid cancer by consulting the existing public information. We also discuss the clinical potential of liquid biopsy in thyroid cancer and provide a reference for liquid biopsy research. Liquid biopsy has the potential to be a useful tool in the early detection, monitoring, or prediction of response to therapies and prognosis in thyroid cancer, with promising clinical applications.

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Detection of ctDNA in the plasma of patients with papillary thyroid carcinoma

Cited by 6 publications

References 37 publications

Detection of BRAFV600E in Liquid Biopsy from Patients with Papillary Thyroid Cancer Is Associated with Tumor Aggressiveness and Response to Therapy

Detection of BRAFV600E in Liquid Biopsy from Patients with Papillary Thyroid Cancer Is Associated with Tumor Aggressiveness and Response to Therapy

Reliability of BRAF mutation detection using plasma sample

CTC, ctDNA, and Exosome in Thyroid Cancers: A Review

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