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Coexisting Germline CHEK2 and Somatic BRAFV600E Mutations in Papillary Thyroid Cancer and Their Association with Clinicopathological Features and Disease Course
Open AccessArticle

Microfluidic Droplet Digital PCR Is a Powerful Tool for Detection of BRAF and TERT Mutations in Papillary Thyroid Carcinomas

1
Thyroid Cancer Research Center, MedStar Health Research Institute, 100 Irving St NW, Washington, DC 2010, USA
2
Division of Endocrinology, Department of Internal Medicine, MedStar Washington Hospital Center, 110 Irving St NW, Washington, DC 2010, USA
3
Department of Imaging and Clinical Semeiotic, Faculty of Medicine, University of Medicine Tirana, 371 Dibra St, 1005 Tirana, Albania
4
Department of Pediatrics, Uniformed Services University of the Health Sciences, 4301 Jones Bridge, Bethesda, MD 20814, USA
5
Biomedical instrumentation center, Uniformed Services University of the Health Sciences, 4301 Jones Bridge, Bethesda, MD 20814, USA
*
Author to whom correspondence should be addressed.
Cancers 2019, 11(12), 1916; https://doi.org/10.3390/cancers11121916
Received: 11 November 2019 / Revised: 25 November 2019 / Accepted: 26 November 2019 / Published: 2 December 2019
(This article belongs to the Special Issue Thyroid Cancer)
We examined the utility of microfluidic digital PCR (dPCR) for detection of BRAF and TERT mutations in thyroid tumors. DNA extracted from 100 thyroid tumors (10 follicular adenomas, 10 follicular cancers, 5 medullary cancers, and 75 papillary thyroid cancer (PTC) were used for detection of BRAF and TERT mutations. Digital PCRs were performed using rare mutation SNP genotyping assays on QuantStudio 3D platform. In PTCs, BRAFV600E was detected by dPCR and Sanger sequencing in 42/75 (56%) and in 37/75 (49%), respectively. BRAFV600E was not detected in other tumors. The ratio of mutant/total BRAF alleles varied from 4.7% to 47.5%. These ratios were higher in classical PTCs (27.1%) as compared to follicular variant PTCs (9.4%) p = 0.001. In PTCs with and without metastases, the ratios of mutant/total BRAF alleles were 27.6% and 18.4%, respectively, (p = 0.03). In metastatic lesions percentages of mutant/total BRAF alleles were similar to those detected in primary tumors. TERTC228T and TERTC250T were found in two and one cases, respectively, and these tumors concomitantly harbored BRAFV600E. These tumors exhibited gross extra-thyroidal extension, metastases to lymph nodes, and pulmonary metastases (one case). Our results showed that dPCR allows quantitative assessment of druggable targets in PTCs and could be helpful in a molecular-based stratification of prognosis in patients with thyroid cancer. View Full-Text
Keywords: thyroid cancer; digital PCR; oncogenes; quantification; metastasis; BRAF; TERT thyroid cancer; digital PCR; oncogenes; quantification; metastasis; BRAF; TERT
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Ylli, D.; Patel, A.; Jensen, K.; Li, Z.-Z.; Mendonca-Torres, M.C.; Costello, J.; Gomes-Lima, C.J.; Wartofsky, L.; Burman, K.D.; Vasko, V.V. Microfluidic Droplet Digital PCR Is a Powerful Tool for Detection of BRAF and TERT Mutations in Papillary Thyroid Carcinomas. Cancers 2019, 11, 1916.

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