Clinical Implication of Highly Sensitive Detection of the BRAF V600E Mutation in Fine-Needle Aspirations of Thyroid Nodules: A Comparative Analysis of Three Molecular Assays in 4585 Consecutive Cases in a BRAF V600E Mutation-Prevalent Area

Lee, Seung Tae; Kim, Sun Wook; Ki, Chang‐Seok; Jang, Ja‐Hyun; Shin, Jung Hee; Oh, Young Lyun; Kim, Jong-Won; Chung, Jae Hoon

doi:10.1210/jc.2011-3135

Cited by 95 publications

(107 citation statements)

References 31 publications

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“…Moreover, facilitating clinical outcome assessment for developing individualized treatment programs is necessary (Lee et al, 2012;Rossi et al, 2012;Nikiforov et al, 2013).…”

Section: Introductionmentioning

confidence: 99%

Correlation analysis of ultrasonic characteristics, pathological type, and molecular markers of thyroid nodules

Su¹,

Liu²,

Cheng³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. The present study was conducted to analyze the correlation between ultrasonic characteristics, pathological type, and molecular markers of thyroid-tumor-related genes as well as to evaluate the diagnosis and prognosis of thyroid nodules. The acoustic characteristics of 130 thyroid specimens were detected. Pathological sectioning and immunohistochemical detection were performed to determine the correlation between tumor gene expression and ultrasonic characteristics. Ultrasonic testing revealed that malignant nodules were normally accompanied by lymph nodes. Expression of the human telomerase reverse transcriptase, Ki67, vascular endothelial growth factor, Ret, and P53 genes exhibited statistically significant differences in malignant, benign, and normal tissues. The performance of thyroid malignant nodules showed different degrees of correlation with the expression of the human telomerase reverse transcriptase, Ki67, VEGF, Ret, and P53 genes. Color Doppler ultrasound is highly sensitive for thyroid nodules and is therefore

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“…Moreover, facilitating clinical outcome assessment for developing individualized treatment programs is necessary (Lee et al, 2012;Rossi et al, 2012;Nikiforov et al, 2013).…”

Section: Introductionmentioning

confidence: 99%

Correlation analysis of ultrasonic characteristics, pathological type, and molecular markers of thyroid nodules

Su¹,

Liu²,

Cheng³

et al. 2015

Genet. Mol. Res.

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“…Detection of the mutation by either method was considered positive. DPO-PCR or mutant enrichment with 3′-modified oligonucleotides (MEMO) sequencing was conducted as previously described [17]. …”

Section: Methodsmentioning

confidence: 99%

Significance of Subcategory Atypia of Undetermined Significance/Follicular Lesion of Undetermined Significance Showing Both Cytologic and Architectural Atypia in Thyroid Aspiration Cytology

Jung

Lee

et al. 2015

Acta Cytologica

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Objective: The Bethesda System for Reporting Thyroid Cytopathology is now widely used as the standard reporting system for fine-needle aspiration cytology (FNAC). Recently, several studies have attempted to subcategorize the atypia of undetermined significance (AUS)/follicular lesion of undetermined significance (FLUS) category. We aimed to analyze the significance of a subcategory of AUS/FLUS showing both cytologic and architectural atypia (AUS/FLUS-C&A). Study Design: From April 2011 to May 2014, 18,091 patients underwent FNAC at Samsung Medical Center. For those patients we analyzed the clinical significance of the subcategory AUS/FLUS-C&A. Results: One hundred and sixty-three patients were diagnosed as AUS/FLUS-C&A. Of 71 cases with subsequent histologic confirmation, 47 (66.2%) were diagnosed with papillary thyroid carcinoma (PTC). Of the 47 PTC cases, 32 (68.1%) were follicular variant-PTC. A significant difference in the PTC rate (58.3 vs. 82.6%) and PTC size (average: 1.8 and 0.9 cm) was noted between circumscribed lesions and infiltrative lesions on ultrasonography. Conclusion: We demonstrated that the subcategory of AUS/FLUS-C&A has considerable clinical implications and one should be aware of the cytological and ultrasonographic features.

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“…org 5 497 498 499 500 501 502 503 504 505 506 507 508 509 510 511 512 513 514 515 516 517 518 519 520 521 522 523 524 525 526 527 528 529 530 531 532 533 534 535 536 537 538 539 540 541 542 543 544 545 546 547 548 549 550 551 552 553 554 555 556 557 558 559 560 561 562 563 564 565 566 567 568 569 570 571 572 573 574 575 576 577 578 579 580 581 582 583 584 585 586 587 588 589 590 591 592 593 15,18,19 The sensitivity and specificity for diagnosing BRAF V600E from FNA specimens vary depending on many factors, such as sample status 8 and molecular methods. 9,18 In addition, tumor size affects the detection rates of BRAF V600E mutations, according to the sensitivity of individual assays. 18 Herein, one case had a benign nodule with chronic lymphocytic thyroiditis on the basis of histological diagnosis; the BRAF V600E was detected by both Real-Q and MEMO sequencing and not by AS-PCR (Table 3).…”

Section: Evaluation Of Braf Assaymentioning

confidence: 99%

Evaluation of the Real-Q BRAF V600E Detection Assay in Fine-Needle Aspiration Samples of Thyroid Nodules

Park

et al. 2015

The Journal of Molecular Diagnostics

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Recently, several molecular assays for detecting the BRAF V600E mutation in fine-needle aspiration (FNA) specimens have been developed. Herein, we tested 294 consecutive FNA samples from patients with thyroid nodules with the Real-Q BRAF V600E detection assay (Real-Q). These results were compared with an allele-specific PCR-based kit using dual-priming oligonucleotides (AS-PCR). Any discordant results between the two tests were also analyzed by mutant enrichment with 3'-modified oligonucleotide sequencing. A total of 128 cases were confirmed histologically; of these, 121 were diagnosed as papillary thyroid carcinoma (PTC). The BRAF mutation was detected by Real-Q and AS-PCR testing in 80.2% (95% CI, 71.9%-86.9%) and 76.9% (95% CI, 68.3%-84.0%), respectively, of FNA specimens with PTC. Combining the BRAF V600E molecular assays (Real-Q and AS-PCR) with cytological diagnoses of malignant and suspicious for malignant cells, the detection rates (sensitivity) of Real-Q and AS-PCR for diagnosis of PTC increased to 94.2% (95% CI, 88.4%-97.6%) and 92.6% (95% CI, 86.4%-96.5%), respectively. In conclusion, the detection of BRAF V600E mutations in PTC by Real-Q is compatible to that of AS-PCR.

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Clinical Implication of Highly Sensitive Detection of the BRAF V600E Mutation in Fine-Needle Aspirations of Thyroid Nodules: A Comparative Analysis of Three Molecular Assays in 4585 Consecutive Cases in a BRAF V600E Mutation-Prevalent Area

Abstract: Highly sensitive and specific molecular assays such as MEMO sequencing are optimal for detecting the BRAF mutations in thyroid FNAC because these techniques can detect PTC that might be missed by cytology or less sensitive molecular assays.

Cited by 95 publications

References 31 publications

Correlation analysis of ultrasonic characteristics, pathological type, and molecular markers of thyroid nodules

Correlation analysis of ultrasonic characteristics, pathological type, and molecular markers of thyroid nodules

Significance of Subcategory Atypia of Undetermined Significance/Follicular Lesion of Undetermined Significance Showing Both Cytologic and Architectural Atypia in Thyroid Aspiration Cytology

Evaluation of the Real-Q BRAF V600E Detection Assay in Fine-Needle Aspiration Samples of Thyroid Nodules

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