Predictive Value of Somatic Mutations for the Development of Malignancy in Thyroid Nodules by Cytopathology

Halászlaki, Csaba; Tobiás, Bálint; Balla, Bernadett; Kósa, János P.; Horanyi, J; Bölöny, Eszter; Nagy, Zsolt; Szabó, Gábor; Járay, Balázs; Székely, Eszter; Istók, Roland; Szèkely, T.; Putz, Zsuzsanna; Dank, Magdolna; Lakatos, Péter L.; Takács, István

doi:10.4158/ep151057.or

Cited by 6 publications

(4 citation statements)

References 32 publications

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“…Based on previous results, [9][10][11][12][13] the association of malignancy risk stratification of thyroid nodules with different molecular alterations were categorized into three levels: High-Risk, Low-Risk, and Benign-like (Table 1). A test was considered as positive if a genetic alteration was annotated with High-Risk or Low-Risk, and negative if Benign-Like.…”

Section: Molecular Analysismentioning

confidence: 99%

Utility of a multigene testing for preoperative evaluation of indeterminate thyroid nodules: A prospective blinded single center study in China

Song

et al. 2020

Cancer Medicine

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Section: Molecular Analysismentioning

confidence: 99%

Utility of a multigene testing for preoperative evaluation of indeterminate thyroid nodules: A prospective blinded single center study in China

Song

et al. 2020

Cancer Medicine

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“…The possible reason is that most patients had PTC or PTMC in this study. Interestingly, in a retrospective study ( 31 ), 17 and 4 samples with BRAF mutations did not exhibit malignant features in the first and second years of follow-up, and all 4 samples with BRAF mutations showed malignant features in the third year of follow-up. Therefore, cytology is only a snapshot, and the presence of a BRAF mutation suggests that malignant features will eventually develop.…”

Section: Discussionmentioning

confidence: 96%

Molecular testing raises thyroid nodule fine needle aspiration diagnostic value

Han

Dai

Xie

et al. 2023

Endocrine Connections

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Thyroid fine needle aspiration biopsy (FNAB) remains indeterminate in 16%-24% of the cases. Molecular testing could improve the diagnostic accuracy of FNAB. This study examined the gene mutation profile of patients with thyroid nodules and analyzed the diagnostic ability of molecular testing for thyroid nodules using a self-developed 18-gene test. Between January 2019 and August 2021, 513 samples (414 FNABs and 99 formalin-fixed paraffin-embedded (FFPE) specimens) underwent molecular testing at Ruijin Hospital. Sensitivity (Sen), specificity (Spe), positive predictive value (PPV), negative predictive value (NPV), and accuracy were calculated. There were 457 mutations in 428 samples. The rates of BRAF, RAS, TERT promoter, RET/PTC, and NTRK3 fusion mutations were 73.3% (n=335), 9.6% (n=44), 2.8% (n=13), 4.8% (n=22), and 0.4% (n=2), respectively. The diagnostic ability of cytology and molecular testing were evaluated in Bethesda II and V-VI samples. For cytology alone, Sen, Spe, PPV, NPV, and accuracy were 100%, 25.0%, 97.4%, 100%, and 97.4%; these numbers were 87.5%, 50.0%, 98.0%, 12.5%, and 86.2% when considering positive mutation, and 87.5%, 75.0%, 99.0%, 17.6%, and 87.1% when considering positive cytology or and positive mutation. In Bethesda III-IV nodules, when relying solely on the presence of pathogenic mutations for diagnosis, Sen, Spe, PPV, NPV, and AC were 76.2%, 66.7%, 94.1%, 26.8%, and 75.0%, respectively. It might be necessary to analyze the molecular mechanisms of disease development at the genetic level to predict patients with malignant nodules more accurately in different risk strata and develop rational treatment strategies and definite management plans.

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“…The prevalence of palpable nodules in the thyroid gland is 4-7% [5], however, non-palpable and non-visible nodules are more frequent, altogether 20-50% of the population are affected depending on the method used to detect [6]. Majority of malignant lesions can be identified in cold nodules, i.e.…”

Section: Introductionmentioning

confidence: 99%

Targeted Mutational Profiling and a Powerful Risk Score as Additional Tools for the Diagnosis of Papillary Thyroid Cancer

Kocsis-Deák

Árvai²,

Balla

et al. 2019

Pathol. Oncol. Res.

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Nowadays, the complementary diagnostics based on the suspicious thyroid lesion specific mutational state analysis is indispensable in the clinical practice. We aimed to test and validate our novel 568-mutational hotspot panel (23 cancer-related genes) on papillary thyroid cancers (PTCs) and their tumor-free pairs to find the most powerful mutation pattern related to PTC. The sequencing method was carried on with Ion Torrent PGM on 67 thyroid tissue samples. The most commonly detected mutation was the BRAF c.1799 T > A in all non-classical PTC cases. We utilized a multivariate statistical method (CVA) to determine a discrimination score based on mutational data array and to assess malignancy risk. Based on variants, the BRAF gene has by far the highest indicative power, followed by TSHR and APC. We highlighted novel aspects of the mutational profile and genetic markers of PTC. CVA has correctly assigned most of the samples based on the mutation frequencies and different variables of the selected genes, with high analytical probabilities. The final goal is to set up a new comprehensive rule-in and rule-out test to support the clinical decision making mainly in inconclusive fine-needle aspiration biopsy cases.

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Predictive Value of Somatic Mutations for the Development of Malignancy in Thyroid Nodules by Cytopathology

Cited by 6 publications

References 32 publications

Utility of a multigene testing for preoperative evaluation of indeterminate thyroid nodules: A prospective blinded single center study in China

Utility of a multigene testing for preoperative evaluation of indeterminate thyroid nodules: A prospective blinded single center study in China

Molecular testing raises thyroid nodule fine needle aspiration diagnostic value

Targeted Mutational Profiling and a Powerful Risk Score as Additional Tools for the Diagnosis of Papillary Thyroid Cancer

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