Molecular testing in <scp>fine‐needle</scp> aspiration of thyroid nodules

McMurtry, Valarie; Canberk, Şule; Deftereos, Georgios

doi:10.1002/dc.25035

Cited by 7 publications

(7 citation statements)

References 230 publications

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“…In addition, during the histological assessment of surgically excised thyroid glands, tumors with a follicular pattern can present diagnostic issues, since the evidence of malignant features, such as capsular or vascular invasion, may not be sufficient; these cases can be classified as follicular tumors of uncertain malignant potential (FT-UMP) 8 , thus leading to a questionable evaluation of the patient’s risk. Over the past fifteen years, there has been a significant increase in the publication of molecular analysis results on thyroid nodule tissue 9 , 10 . The aim of these studies is to minimize unnecessary surgeries and enhance diagnostic uniformity.…”

Section: Introductionmentioning

confidence: 99%

An eXplainable Artificial Intelligence analysis of Raman spectra for thyroid cancer diagnosis

Bellantuono,

Tommasi,

Pantaleo

et al. 2023

Sci Rep

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Raman spectroscopy shows great potential as a diagnostic tool for thyroid cancer due to its ability to detect biochemical changes during cancer development. This technique is particularly valuable because it is non-invasive and label/dye-free. Compared to molecular tests, Raman spectroscopy analyses can more effectively discriminate malignant features, thus reducing unnecessary surgeries. However, one major hurdle to using Raman spectroscopy as a diagnostic tool is the identification of significant patterns and peaks. In this study, we propose a Machine Learning procedure to discriminate healthy/benign versus malignant nodules that produces interpretable results. We collect Raman spectra obtained from histological samples, select a set of peaks with a data-driven and label independent approach and train the algorithms with the relative prominence of the peaks in the selected set. The performance of the considered models, quantified by area under the Receiver Operating Characteristic curve, exceeds 0.9. To enhance the interpretability of the results, we employ eXplainable Artificial Intelligence and compute the contribution of each feature to the prediction of each sample.

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Section: Introductionmentioning

confidence: 99%

An eXplainable Artificial Intelligence analysis of Raman spectra for thyroid cancer diagnosis

Bellantuono,

Tommasi,

Pantaleo

et al. 2023

Sci Rep

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“…The B-Raf proto-oncogene ( BRAF ) encodes a cytoplasmic serine/threonine kinase with a key role in regulating the mitogen-activated protein kinase signal transduction pathway [ 9 ]. The BRAF V600E mutation in exon 15 of the BRAF gene has been studied in different cancers, including thyroid cancers [ 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 ]. Induction of the BRAF V600E mutation in thyroid cells may lead to frequent hypermethylation [ 21 ].…”

Section: Introductionmentioning

confidence: 99%

“…The risk ratios in BRAF -mutation-positive patients were 1.93 ( p < 0.00001) for PTC recurrence, 1.32 ( p < 0.00001) for lymph node metastasis, 1.71 ( p < 0.00001) for extra thyroidal extension, and 1.70 ( p < 0.00001) for advanced stage [ 22 ]. Fine needle aspiration (FNA) biopsy is currently the best diagnostic tool for thyroid nodules [ 15 ], except for indeterminate or suspicious lesions found in 10–15% of cases, which remains a challenge [ 24 ].…”

Section: Introductionmentioning

confidence: 99%

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Association of DNA Promoter Methylation and BRAF Mutation in Thyroid Cancer

et al. 2023

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The BRAF V600E mutation and DNA promoter methylation play important roles in the pathogenesis of thyroid cancer (TC). However, the association of these genetic and epigenetic alterations is not clear. In this study, using paired tumor and surrounding normal tissue from the same patients, on a genome-wide scale we tried to identify (a) any association between BRAF mutation and DNA promoter methylation, and (b) if the molecular findings may provide a basis for therapeutic intervention. We included 40 patients with TC (female = 28, male = 12) without distant metastasis. BRAF mutation was present in 18 cases. We identified groups of differentially methylated loci (DML) that are found in (a) both BRAF mutant and wild type, (b) only in BRAF mutant tumors, and (c) only in BRAF wild type. BRAF mutation-specific promoter loci were more frequently hypomethylated, whereas BRAF wild-type-specific loci were more frequently hypermethylated. Common DML were enriched in cancer-related pathways, including the mismatch repair pathway and Wnt-signaling pathway. Wild-type-specific DML were enriched in RAS signaling. Methylation status of checkpoint signaling genes, as well as the T-cell inflamed genes, indicated an opportunity for the potential use of PDL1 inhibitors in BRAF mutant TC. Our study shows an association between BRAF mutation and methylation in TC that may have biological significance.

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“…Molecular studies in cytological material can also be used as a valuable ancillary test for diagnosis. In this issue, McMurtry et al 11 summarize the most frequent molecular alterations and commercially available molecular assays that can be used in cytologically indeterminate thyroid nodules to help further risk‐stratify these lesions.…”

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confidence: 99%

Molecular testing in cytology

Schmitt

Yang

Esebua

2022

Diagnostic Cytopathology

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In the era of personalized medicine, molecular testing plays a critical role in patient care. The rapid advance of molecular techniques, especially next‐generation sequencing, makes molecular diagnosis feasible in daily practice. Molecular testing can be used as a valuable ancillary test to increase diagnostic sensitivity and specificity, especially in small biopsy or cytology samples. In addition, molecular testing plays an important role in selecting patients for appropriate treatment by detecting therapeutic and predictive biomarkers in tissue or cytology samples. Molecular studies can be applied in all cytology samples, sometimes with better results than histology. As molecular testing has become essential for patient care and is often requested to be performed in cytology samples, it is critical for cytopathologists to understand the basics of molecular diagnostic methods, indications for molecular testing, and how to best utilize different cytologic samples for this purpose. In this special issue, experts in various areas of cytopathology and molecular pathology review the literature and discuss the basics of molecular techniques and the application of molecular testing in various types of cytology samples. It is our hope that after reading the articles in this special issue, the readers can know better about the possibilities of molecular cytology, a very exciting field of pathology.

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Molecular testing in fine‐needle aspiration of thyroid nodules

Cited by 7 publications

References 230 publications

An eXplainable Artificial Intelligence analysis of Raman spectra for thyroid cancer diagnosis

An eXplainable Artificial Intelligence analysis of Raman spectra for thyroid cancer diagnosis

Association of DNA Promoter Methylation and BRAF Mutation in Thyroid Cancer

Molecular testing in cytology

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