Detection of BRAF V600E mutation in fine-needle aspiration fluid of papillary thyroid carcinoma by droplet digital PCR

Xu, Xiaowu; Ma, Xiaowei; Zhang, Xinju; Cao, Guikang; Tang, Yigui; Kang, Zhihua; Li, Min; Guan, Ming

doi:10.1016/j.cca.2019.01.017

Cited by 19 publications

(30 citation statements)

References 18 publications

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“…It showed a better performance than ARMS-PCR in BRAF V600E mutation detection on thyroid nodule FNA specimens, which is in line with a previous study. 13 The combination of ddPCR and FNA cytology may serve as a better option for the diagnosis of thyroid nodules.…”

Section: Discussionmentioning

confidence: 99%

“…However, ARMS-PCR may not be sensitive enough due to the fact that FNA samples usually have few mutant cells. 13 Therefore, the development of a more sensitive and accurate detection method is warranted.…”

Section: Introductionmentioning

confidence: 99%

“…12 A previous study has also reported the superior sensitivity of ddPCR over ARMS-PCR in PTC detection using the FNA cytopathology as the reference. 13 However, as aforementioned, FNA cytological diagnosis is not accurate as surgical pathology, which is considered to be the gold standard; it remains unclear whether ddPCR has a better value than ARMS-PCR on surgical decision-making when in combination with FNA cytology. Therefore, in this study, we validated and compared the clinical utility of ddPCR to ARMS-PCR for the detection of the BRAF V600E mutation in FNA specimens of thyroid nodules, using pathological diagnosis following surgery as the gold standard.…”

Section: Introductionmentioning

confidence: 99%

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Comparison of the Clinical Validity of Droplet Digital PCR to ARMS‐PCR for BRAF V600E Mutation Detection in Thyroid Nodules

Luo

et al. 2020

Clinical Laboratory Analysis

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Comparison of the Clinical Validity of Droplet Digital PCR to ARMS‐PCR for BRAF V600E Mutation Detection in Thyroid Nodules

Luo

et al. 2020

Clinical Laboratory Analysis

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“…Tissue sections were deparaffinized, and genomic DNA was extracted using GeneRead DNA FFPE Kit (Qiagen Inc, Germany) according to the manufacturer's instructions. Amplification‐refractory mutation system‐qPCR (ARMS‐qPCR) was performed using BRAF V600E Mutation Detection Kit with p.1799T >A allele‐specific TaqMan probe (AmoyDx) as described previously (Xu et al, ). The fluorescence signal of FAM ( BRAF V600E signal) and HEX (housekeeping gene internal control signal) was collected for each sample.…”

Section: Methodsmentioning

confidence: 99%

Ameloblastoma with mucous cells: A clinicopathological, BRAF mutation, and MAML2 rearrangement study

et al. 2020

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Objectives To investigate the clinicopathological features, BRAF V600E mutation, and MAML2 rearrangement of ameloblastoma with mucous cell differentiation. Materials and Methods Five cases of ameloblastoma with mucous cell differentiation were retrospectively studied. Clinicopathological features, BRAF V600E mutation, and MAML2 rearrangement were analyzed. Follow‐up information was available for all cases. Results Of five cases, two cases were male and three were female, aged 18–55 years. Four cases were located in the mandible and one case in the maxilla. Histologically, four of the five cases (80%) presented with cystic features and three of the five cases (60%) with varying degrees of squamous metaplasia. The mucous cells were located in the epithelial islands or the luminal aspect of the cystic cavities. The BRAF V600E mutation was found in three of five cases (60%). All the cases showed no MAML2 rearrangement. Two cases were recurrent lesions, and one case had a local recurrence during the follow‐up. Conclusions Ameloblastoma with mucous cell differentiation is closely related to the cystic features, squamous metaplasia, and shows a high prevalence of BRAF V600E mutation. The absence of MAML2 rearrangement reveals that ameloblastoma with mucous cell differentiation and central mucoepidermoid carcinoma (MEC) are two distinct tumor entities.

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“…Digital PCR (dPCR) analysis of DNA appears particularly attractive for patients with thyroid cancer, a tumor characterized by a high frequency of hotspot mutations in BRAFV600E. However, currently there are limited data demonstrating the clinical utility of the dPCR-based detection of mutations in patients with thyroid tumors [33]. Beside the high sensitivity, dPCR allows a quantification of the mutant allele, therefore providing a deeper insight into the relationships between the mutation status and tumor's clinico-pathological characteristics, and response to therapy.…”

Section: Introductionmentioning

confidence: 99%

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

Ylli

Patel

Jensen

et al. 2019

Cancers

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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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Detection of BRAF V600E mutation in fine-needle aspiration fluid of papillary thyroid carcinoma by droplet digital PCR

Cited by 19 publications

References 18 publications

Comparison of the Clinical Validity of Droplet Digital PCR to ARMS‐PCR for BRAF V600E Mutation Detection in Thyroid Nodules

Comparison of the Clinical Validity of Droplet Digital PCR to ARMS‐PCR for BRAF V600E Mutation Detection in Thyroid Nodules

Ameloblastoma with mucous cells: A clinicopathological, BRAF mutation, and MAML2 rearrangement study

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

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