Microfluidic Droplet Digital PCR Is a Powerful Tool for Detection of BRAF and TERT Mutations in Papillary Thyroid Carcinomas. (Record no. 4877)

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fixed length control field 02386nam a22003137a 4500
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control field OSt
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control field 20230312221700.0
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fixed length control field 200103s20192019 xxu||||| |||| 00| 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 2072-6694
024 ## - OTHER STANDARD IDENTIFIER
Standard number or code 10.3390/cancers11121916 [doi]
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Standard number or code cancers11121916 [pii]
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Original cataloging agency Ovid MEDLINE(R)
Transcribing agency whc
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PMID 31810221
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Title Microfluidic Droplet Digital PCR Is a Powerful Tool for Detection of BRAF and TERT Mutations in Papillary Thyroid Carcinomas.
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Year 2019
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Date added to catalog 2020-01-03
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Abstract 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.
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Language note English
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9 (RLIN) 7
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Institution MedStar Health Research Institute
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Institution MedStar Washington Hospital Center
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Department Medicine/Endocrinology
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Medline publication type Journal Article
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Local Authors Burman, Kenneth D
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Local Authors Gomes-Lima, Cristiane J
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Local Authors Wartofsky, Leonard
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Local Authors Ylli, Dorina
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Koha item type Journal Article
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          MedStar Authors Catalog MedStar Authors Catalog 01/03/2020   31810221 31810221 01/03/2020 01/03/2020 Journal Article

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