Circulating tumour DNA is a potential biomarker for disease progression and response to targeted therapy in advanced thyroid cancer

Allin, David; Shaikh, Ridwan; Carter, P.; Thway, Khin; Sharabiani, Mansour T. A.; Gonzales-de-Castro, David; O’Leary, Ben; García-Murillas, Isaac; Bhide, Shreerang A.; Hubank, Michael; Harrington, Kevin; Kim, D.; Newbold, Kate

doi:10.1016/j.ejca.2018.08.013

Cited by 43 publications

(50 citation statements)

References 30 publications

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“…In this exploratory study we investigated the prognostic value of cfDNA/ctDNA isolated from advanced HCC patients over multiple time points in the context of the SORAMIC trial. We observed that the amount of cfDNA measured immediately after micro-intervention significantly correlated with the presence of distant metastases, supporting also in this clinical context a diagnostic value of cfDNA to unravel secondary lesions, as showed in other tumor types [25, 30, 31]. In addition, patients with post-operative high levels of cfDNA had a shorter OS.…”

Section: Discussionsupporting

confidence: 80%

“…At the considered time points, only 2 (15.4%) of the patients showed high AFP values (> 400 ng/ml), 4 (30.8%) showed values between 20 and 400 ng/ml and 7 (53.8%) showed values between 2 and 20 ng/ml (Table 2). It has been already shown that cfDNA has clinical diagnostic relevance, reflecting therapy response [25]. We report here in more detail three vignettes of patients with evidence of disease progression, for which cfDNA offered earlier monitoring value than conventional biomarkers such as AFP (Fig.…”

Section: Resultsmentioning

confidence: 92%

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Circulating DNA as prognostic biomarker in patients with advanced hepatocellular carcinoma: a translational exploratory study from the SORAMIC trial

et al. 2019

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Background Liquid biopsy based on cell-free DNA circulating in plasma has shown solid results as a non-invasive biomarker. In the present study we evaluated the utility of circulating free DNA (cfDNA) and the sub-type tumor DNA (ctDNA) in hepatocellular cancer (HCC) patients to assess therapy response and clinical outcome. Methods A cohort of 13 patients recruited in the context of the SORAMIC trial with unresectable, advanced HCC and different etiological and clinicopathological characteristics was included in this exploratory study. Plasma samples were collected between liver micro-intervention and beginning of sorafenib-based systemic therapy and then in correspondence of three additional follow-ups. DNA was isolated from plasma and next generation sequencing (NGS) was performed on a panel of 597 selected cancer-relevant genes. Results cfDNA levels showed a significant correlation with the presence of metastases and survival. In addition cfDNA kinetic over time revealed a trend with the clinical history of the patients, supporting its use as a biomarker to monitor therapy. NGS-based analysis on ctDNA identified 28 variants, detectable in different combinations at the different time points. Among the variants, HNF1A, BAX and CYP2B6 genes showed the highest mutation frequency and a significant association with the patients’ clinicopathological characteristics, suggesting a possible role as driver genes in this specific clinical setting. Conclusions Taken together, the results support the prognostic value of cfDNA/ctDNA in advanced HCC patients with the potential to predict therapy response. These findings support the clinical utility of liquid biopsy in advanced HCC improving individualized therapy and possible earlier identification of treatment responders.

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Section: Discussionsupporting

confidence: 80%

Section: Resultsmentioning

confidence: 92%

Circulating DNA as prognostic biomarker in patients with advanced hepatocellular carcinoma: a translational exploratory study from the SORAMIC trial

et al. 2019

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“…ctDNA was detected in at least one plasma timepoint in 67% of patients and the detection rate was highest in MTC compared with other thyroid tumors. Authors demonstrated that cfDNA was an earlier biomarker of disease respect to Ctn (Allin, et al, 2018). In summary, these studies point out to cfDNA as an early biomarker for MTC progression.…”

Section: Cell-free Dna (Cfdna) As Biomarker In Mtcmentioning

confidence: 78%

“…The range volume of plasma samples for cfDNA isolation was from 700ul to 4mL. The following methods were used: QIAsymphony DSP Circu-lating DNA Kit (Qiagen) with 4 ml of plasma (Allin, et al, 2018), QIAmp UltraSens Virus Kit (Qiagen) with 700 uL of plasma (Zane, et al, 2013) and QIAamp Circulating Nucleic Acid Kit (Qiagen) with 3 ml of plasma (Cote, et al, 2017). cfDNA was measured by quantitative real-time PCR (Zane, et al, 2013) or via droplet polymerase chain reaction (Allin, et al, 2018;Cote, et al, 2017).…”

Section: Conflict Of Interest Statementmentioning

confidence: 99%

Role of tissue and circulating microRNAs and DNA as biomarkers in medullary thyroid cancer

Chiacchiarini

Trocchianesi

Besharat

et al. 2021

Pharmacology & Therapeutics

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This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

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“…Circulating free DNA (cfDNA) in general and circulating tumor DNA (ctDNA) in particular is becoming a more and more popular class of liquid biopsy biomarkers (9). One of the biggest advantages of its uses as a biomarker is that cfDNA can be extracted from blood plasma, which makes sampling a minimally invasive procedure, compared to tissue biopsies (10).…”

Section: Introductionmentioning

confidence: 99%

Evaluation of the Possibility to Detect Circulating Tumor DNA From Pituitary Adenoma

et al. 2019

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Objective: Circulating free DNA (cfDNA) in general and circulating tumor DNA (ctDNA) in particular is becoming an increasingly used form of liquid biopsy biomarkers. In this study, we are investigating the ability to detect ctDNA from the plasma of pituitary adenoma (PA) patients.Design: Tumor tissue samples were obtained from planed PA resections, before which blood plasma samples were taken. Somatic variants found in PA tissue samples were evaluated in related cfDNA, isolated from plasma samples.Methods: Sanger sequencing, as well as previously obtained whole-exome sequencing data, were used to evaluate somatic variants composition in tumor tissue samples. cfDNA was isolated from the same PA patients and competitive allele-specific TaqMan PCR and amplicon-based next-generation sequencing (NGS) approach were used for targeted detection of variants found in corresponding tumor tissue samples.Results: Using NGS-based analysis, we detected five out of 17 somatic variants in 40 to 60% of total reads, three variants in 0.50–5.00% of total read count, including GNAS c.601C>T, which was detected using ultra-deep NGS (1.78 million X) in 0.77% of amplicons reads. Nine variants were not detected. We also detected We were not able to detect variant found in PA tissue in cfDNA using cast-PCR, indicating that the portion of variant-containing ctDNA in total isolated cfDNA is too small to be detected with this method.Conclusions: For the first time, we demonstrate the possibility to detect somatic variants of PA in cfDNA isolated from patients' blood plasma. Whether the source of variant detected in cfDNA is PA should be further tested.

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Circulating tumour DNA is a potential biomarker for disease progression and response to targeted therapy in advanced thyroid cancer

Cited by 43 publications

References 30 publications

Circulating DNA as prognostic biomarker in patients with advanced hepatocellular carcinoma: a translational exploratory study from the SORAMIC trial

Circulating DNA as prognostic biomarker in patients with advanced hepatocellular carcinoma: a translational exploratory study from the SORAMIC trial

Role of tissue and circulating microRNAs and DNA as biomarkers in medullary thyroid cancer

Evaluation of the Possibility to Detect Circulating Tumor DNA From Pituitary Adenoma

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