Optimizing surgical treatment of papillary thyroid carcinoma associated with BRAF mutation

Yip, Linwah; Nikiforova, Marina N.; Carty, Sally E.; Yim, John H.; Stang, Michael T.; Tublin, Mitchell; LeBeau, Shane O.; Hodak, Steven P.; Ogilvie, Jennifer B.

doi:10.1016/j.surg.2009.09.011

Cited by 152 publications

(141 citation statements)

References 20 publications

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“…12,[24][25][26][27] Second, the presence of mutation can help stratify patients into less aggressive or more aggressive groups. 12,25,28,29 Third, a cytological specimen may be the sole diagnostic material available for a patient's tumor. For example, only a third of the lung carcinomas are resectable at the time of initial presentation.…”

Section: Discussionmentioning

confidence: 99%

Next-generation sequencing-based multi-gene mutation profiling of solid tumors using fine needle aspiration samples: promises and challenges for routine clinical diagnostics

et al. 2014

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Increasing use of fine needle aspiration for oncological diagnosis, while minimally invasive, poses a challenge for molecular testing by traditional sequencing platforms due to high sample requirements. The advent of affordable benchtop next-generation sequencing platforms such as the semiconductor-based Ion Personal Genome Machine (PGM) Sequencer has facilitated multi-gene mutational profiling using only nanograms of DNA. We describe successful next-generation sequencing-based testing of fine needle aspiration cytological specimens in a clinical laboratory setting. We selected 61 tumor specimens, obtained by fine needle aspiration, with known mutational status for clinically relevant genes; of these, 31 specimens yielded sufficient DNA for next-generation sequencing testing. Ten nanograms of DNA from each sample was tested for mutations in the hotspot regions of 46 cancer-related genes using a 318-chip on Ion PGM Sequencer. All tested samples underwent successful targeted sequencing of 46 genes. We showed 100% concordance of results between next-generation sequencing and conventional test platforms for all previously known point mutations that included BRAF, EGFR, KRAS, MET, NRAS, PIK3CA, RET and TP53, deletions of EGFR and wild-type calls. Furthermore, next-generation sequencing detected variants in 19 of the 31 (61%) patient samples that were not detected by traditional platforms, thus increasing the utility of mutation analysis; these variants involved the APC, ATM, CDKN2A, CTNNB1, FGFR2, FLT3, KDR, KIT, KRAS, MLH1, NRAS, PIK3CA, SMAD4, STK11 and TP53 genes. The results of this study show that next-generation sequencing-based mutational profiling can be performed on fine needle aspiration cytological smears and cell blocks. Next-generation sequencing can be performed with only nanograms of DNA and has better sensitivity than traditional sequencing platforms. Use of next-generation sequencing also enhances the power of fine needle aspiration by providing gene mutation results that can direct personalized cancer therapy.

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Section: Discussionmentioning

confidence: 99%

Next-generation sequencing-based multi-gene mutation profiling of solid tumors using fine needle aspiration samples: promises and challenges for routine clinical diagnostics

et al. 2014

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“…The other important research was from Kebebew et al (2007), that demonstrated recurrent and persistent diseases were higher even in TNM stage I or AMES low risk classic PTC harboring BRAF mutation. Two studies conducted by Yip et al (2009) andHowell et al (2012) proved that BRAF mutation is related to central lymph node metastasis and they suggest its utility as a guidance to performed the initial extent of surgery. Another interesting study showed that BRAF mutation of PTC significantly have a differential predictive value for lymph node metastasis depend on the tumor size (So et al, 2011).…”

Section: Discussionmentioning

confidence: 99%

Surgical Perspective of T1799A BRAF Mutation Diagnostic Value in Papillary Thyroid Carcinoma

Brahma

Yulian

Ramli³

et al. 2013

Asian Pacific Journal of Cancer Prevention

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Background: Throughout Indonesia, thyroid cancer is one of the ten commonest malignancies, with papillary thyroid carcinoma (PTC) in our hospital accounting for about 60% of all thyroid nodules. Although fine needle aspiration biopsy (FNAB) is the most reliable diagnostic tool, some nodules are diagnosed as indeterminate and second surgery is common for PTC. The aim of this study was to establish the diagnostic value and feasibility of testing the BRAF T1799A mutation on FNA specimens for improving PTC diagnosis. Materials and Methods: This prospective study enrolled 95 patients with thyroid nodules and future surgery planned. Results of mutational status were compared with surgical pathology diagnosis. Results: Of the 70 cases included in the final analysis, 62.8% were PTC and the prevalence of BRAF mutation was 38.6%. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) for BRAF mutation analysis were 36%, 100%, 100% and 48%, respectively. With other data findings, nodules with "onset less than 5 year" and "hard consistency" were proven as diagnostic determinants for BRAF mutation with a probability of 62.5%. This mutation was also a significant risk factor for extra-capsular extension. Conclusions: Molecular analysis of the BRAF T1799A mutation in FNAB specimens has high specificity and positive predictive value for PTC. It could be used in the selective patients with clinical characteristics to facilitate PTC diagnosis and for guidance regarding extent of thyroidectomy.

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“…This primarily involves BRAF V600E, which has been associated in many studies with aggressive histopathologic features of papillary carcinoma, such as extrathyroidal extension and lymph node metastases (41), as well as with tumor recurrence and tumor-related mortality (42)(43)(44)(45)(46)(47). Moreover, BRAF V600E is a significant preoperative predictor of central compartment lymph node metastasis (48), and these tumors more often require reoperation for locally persistent or recurrent disease (49,50). Therefore, patients with BRAF V600E-positive papillary cancer detected preoperatively may benefit from more extensive initial surgery.…”

Section: Total Thyroidectomymentioning

confidence: 99%

New Strategies in Diagnosing Cancer in Thyroid Nodules: Impact of Molecular Markers

Nikiforov

Yip

2013

Clinical Cancer Research

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Thyroid cancer is the most common type of endocrine malignancy, with approximately 55,000 new cases diagnosed in the United States in 2012. However, thyroid nodules are much more prevalent, particularly with increased age, and only a small fraction of those are malignant. Therefore, the major clinical challenge is to reliably differentiate those nodules that are malignant and need to be treated surgically from the majority of nodules that are benign and do not require surgery. The traditional diagnostic approach to this clinical situation is ultrasound-guided fine-needle aspiration (FNA) of the thyroid nodule followed by cytologic examination, which together reliably establish the diagnosis in 70% to 80% of cases. However, in the rest of nodules the presence of cancer cannot be ruled out by FNA cytology, hampering appropriate surgical management and frequently resulting in unnecessary surgical interventions. New approaches to diagnosis of cancer in thyroid nodules are based on mutational and other molecular markers, which can be reliably detected in cells aspirated during the FNA procedure. These markers offer significant improvement in the diagnostic accuracy of FNA cytology and are poised to make a profound effect on the management of patients with thyroid nodules. In addition to the molecular markers that have recently become available for clinical use, rapid development of new sequencing techniques is expected to further improve the accuracy of cancer diagnosis in thyroid nodules and allow for a fully individualized approach to the management of patients with thyroid nodules.

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Optimizing surgical treatment of papillary thyroid carcinoma associated with BRAF mutation

Cited by 152 publications

References 20 publications

Next-generation sequencing-based multi-gene mutation profiling of solid tumors using fine needle aspiration samples: promises and challenges for routine clinical diagnostics

Next-generation sequencing-based multi-gene mutation profiling of solid tumors using fine needle aspiration samples: promises and challenges for routine clinical diagnostics

Surgical Perspective of T1799A BRAF Mutation Diagnostic Value in Papillary Thyroid Carcinoma

New Strategies in Diagnosing Cancer in Thyroid Nodules: Impact of Molecular Markers

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