Clinical Utility of Circulating Cell-Free DNA Mutations in Anaplastic Thyroid Carcinoma

Yu, Qiang; Wang, Jennifer Rui; Wang, Ying; Iyer, Priyanka; Cote, Gilbert J.; Busaidy, Naifa L.; Dadu, Ramona; Zafereo, Mark; Williams, Michelle D.; Ferrarotto, Renata; Gunn, G. Brandon; Wei, Peng; Patel, Keyur P.; Hofmann, Marie‐Claude; Cabanillas, Maria E.

doi:10.1089/thy.2020.0296

Cited by 22 publications

(15 citation statements)

References 25 publications

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“…In 28 treatment-naïve ATC patients, the concordance rate of detected mutations in TP53 , BRAF, and PIK3CA between cf-DNA and matched tissue was 82.1%, 92.9%, and 92.9%, respectively. Moreover, patients with a PIK3CA mutation detected on cf-DNA had worse overall survival (OS) [ 71 ]. The same group evaluated the employment of ddPCR for the identification of BRAF-V600E mutation on cf-DNA in 44 ATC patients, finding a 93% concordance rate with DNA sequencing on tumor tissue.…”

Section: Liquid Biopsy In Poorly Differentiated and Anaplastic Thyroid Cancermentioning

confidence: 99%

Opportunities and Challenges of Liquid Biopsy in Thyroid Cancer

Romano

Martorana

Pennisi

et al. 2021

IJMS

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Thyroid cancer is the most common malignancy of the endocrine system, encompassing different entities with distinct histological features and clinical behavior. The diagnostic definition, therapeutic approach, and follow-up of thyroid cancers display some controversial aspects that represent unmet medical needs. Liquid biopsy is a non-invasive approach that detects and analyzes biological samples released from the tumor into the bloodstream. With the use of different technologies, tumor cells, free nucleic acids, and extracellular vesicles can be retrieved in the serum of cancer patients and valuable molecular information can be obtained. Recently, a growing body of evidence is accumulating concerning the use of liquid biopsy in thyroid cancer, as it can be exploited to define a patient’s diagnosis, estimate their prognosis, and monitor tumor recurrence or treatment response. Indeed, liquid biopsy can be a valuable tool to overcome the limits of conventional management of thyroid malignancies. In this review, we summarize currently available data about liquid biopsy in differentiated, poorly differentiated/anaplastic, and medullary thyroid cancer, focusing on circulating tumor cells, circulating free nucleic acids, and extracellular vesicles.

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Section: Liquid Biopsy In Poorly Differentiated and Anaplastic Thyroid Cancermentioning

confidence: 99%

Opportunities and Challenges of Liquid Biopsy in Thyroid Cancer

Romano

Martorana

Pennisi

et al. 2021

IJMS

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“…In 23 patients with ATC, concordance between tissue and ctDNA was the highest in BRAF V600E (7/10) and NRAS (3/4), and in those patients with persistent disease at time of NGS [ 66 ]. More recently, the same group compared mutations between cfDNA and tissue in a group of 87 ATC patients on the Guardian 360-73 gene platform [ 67 ]. At least one mutation was detected in 92% of patients, with a concordance of 92.9% (26/28) seen for BRAF V600E , with a PPV of 100%.…”

Section: Clinical Applicationsmentioning

confidence: 99%

“…Patients with cfDNA-detected PIK3CA mutation had a worse overall survival than PIK3CA WT ATC patients. Notably TERTp mutations, present in 65–72.7% of ATC patients [ 75 , 76 ], are difficult to detect in ctDNA, with these mutations found in only 5.8% of 87 ATC patients on NGS testing of cfDNA [ 67 ].…”

Section: Clinical Applicationsmentioning

confidence: 99%

Translational Utility of Liquid Biopsies in Thyroid Cancer Management

Wijewardene

Chehade

Gild

et al. 2021

Cancers

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Liquid biopsies are a novel technique to assess for either circulating tumor cells (CTC) or circulating tumor DNA (ctDNA and microRNA (miRNA)) in peripheral blood samples of cancer patients. The diagnostic role of liquid biopsy in oncology has expanded in recent years, particularly in lung, colorectal and breast cancer. In thyroid cancer, the role of liquid biopsy in either diagnosis or prognosis is beginning to translate from the lab to the clinic. In this review, we describe the evolution of liquid biopsies in detecting CTC, ctDNA and miRNA in thyroid cancer patients, together with its limitations and future directions in clinical practice.

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“…So far, ctDNA detection has been increasingly applied in patients with thyroid cancer. Qin et al indicated that ctDNA is a valuable tool to evaluate a tumor's molecular pro le in anaplastic thyroid cancer (ATC) patients [12]. However, the clinical association of gene mutations in ctDNA in differentiated thyroid cancer was not known clearly.…”

Section: Introductionmentioning

confidence: 99%

Preliminary Study on The Relationship of BRAF Mutations to The Outcome of The First 131I Radiotherapy and Malignant Biological Characteristics in Papillary Thyroid Carcinoma

Shangguan

Zhang

Fang

et al. 2021

Preprint

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Objective To investigate the relationship of BRAF mutation to the outcome of the first postoperative 131I treatment and malignant biological characteristics in papillary thyroid carcinoma (PTC) and the clinical value of circulating tumor DNA (ctDNA). Methods Thirty-three patients with PTC underwent the first 131I treatment after total thyroidectomy were enrolled in this study. BRAF mutation based on postoperative tumor tissue and ctDNA in peripheral blood before 131I treatment were detected. According to the status of BRAF mutation, all patients were divided into 2 groups for the categories of tumor tissues and ctDNA respectively: i) BRAF mutated, ii) BRAF wild-type. The Fisher's exact test was performed to analyze the relationship of BRAF mutation in either tumor tissue or ctDNA to the outcome of the first 131I treatment and malignant characteristics of PTC. Results BRAF mutation was detected in 25 patients based on tumor tissue (25/33,75.8%), and all the patients had single mutation site. In ctDNA, BRAF mutation was detected in 5 patients (5/33, 15.2%), and all the patients had single mutation site. BRAF mutation showed no relationship with the outcome of the first 131I treatment and the malignant biological characteristics in both tumor tissues and ctDNA(P>0.05). Conclusion The value of BRAF mutation alone might be limited in predicting therapeutic outcome of the first 131I treatment in PTC. No certain relevance was found between BRAF mutation and malignant biological features in PTC.

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Clinical Utility of Circulating Cell-Free DNA Mutations in Anaplastic Thyroid Carcinoma

Cited by 22 publications

References 25 publications

Opportunities and Challenges of Liquid Biopsy in Thyroid Cancer

Opportunities and Challenges of Liquid Biopsy in Thyroid Cancer

Translational Utility of Liquid Biopsies in Thyroid Cancer Management

Preliminary Study on The Relationship of BRAF Mutations to The Outcome of The First 131I Radiotherapy and Malignant Biological Characteristics in Papillary Thyroid Carcinoma

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