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Article

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

1
Department of Pediatrics, Endocrine Division, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA
2
National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20814, USA
3
MedStar Health Research Institute, MedStar Washington Hospital Center, Washington, DC 20010, USA
4
Endocrinology Division, University of Medicine, 1005 Tirana, Albania
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2020, 9(8), 2481; https://doi.org/10.3390/jcm9082481
Received: 19 June 2020 / Revised: 27 July 2020 / Accepted: 30 July 2020 / Published: 2 August 2020
(This article belongs to the Special Issue Novel Methods of Diagnostics of Thyroid and Parathyroid Lesions)
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. View Full-Text
Keywords: COLD-PCR; digital PCR; BRAFV600E; papillary thyroid cancer; liquid biopsy COLD-PCR; digital PCR; BRAFV600E; papillary thyroid cancer; liquid biopsy
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MDPI and ACS Style

Jensen, K.; Thakur, S.; Patel, A.; Mendonca-Torres, M.C.; Costello, J.; Gomes-Lima, C.J.; Walter, M.; Wartofsky, L.; Burman, K.D.; Bikas, A.; Ylli, D.; Vasko, V.V.; Klubo-Gwiezdzinska, J. Detection of BRAFV600E in Liquid Biopsy from Patients with Papillary Thyroid Cancer Is Associated with Tumor Aggressiveness and Response to Therapy. J. Clin. Med. 2020, 9, 2481. https://doi.org/10.3390/jcm9082481

AMA Style

Jensen K, Thakur S, Patel A, Mendonca-Torres MC, Costello J, Gomes-Lima CJ, Walter M, Wartofsky L, Burman KD, Bikas A, Ylli D, Vasko VV, Klubo-Gwiezdzinska J. Detection of BRAFV600E in Liquid Biopsy from Patients with Papillary Thyroid Cancer Is Associated with Tumor Aggressiveness and Response to Therapy. Journal of Clinical Medicine. 2020; 9(8):2481. https://doi.org/10.3390/jcm9082481

Chicago/Turabian Style

Jensen, Kirk, Shilpa Thakur, Aneeta Patel, Maria C. Mendonca-Torres, John Costello, Cristiane J. Gomes-Lima, Mary Walter, Leonard Wartofsky, Kenneth D. Burman, Athanasios Bikas, Dorina Ylli, Vasyl V. Vasko, and Joanna Klubo-Gwiezdzinska. 2020. "Detection of BRAFV600E in Liquid Biopsy from Patients with Papillary Thyroid Cancer Is Associated with Tumor Aggressiveness and Response to Therapy" Journal of Clinical Medicine 9, no. 8: 2481. https://doi.org/10.3390/jcm9082481

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