Translational Potential of Epigenetic-Based Markers on Fine-Needle Aspiration Thyroid Specimens

Canberk, Şule; Lima, Ana Rita; Pinto, Mafalda; Máximo, Valdemar

doi:10.3389/fmed.2021.640460

Cited by 3 publications

(2 citation statements)

References 76 publications

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“…It would be very great and promising to discover biomarkers of the early stages of tumors to prevent diseases and prognostic markers following the treatment of cancers by examining the DNA methylation alterations of exciting genes involved in cancer development. In recent years, many efforts have been made by the scientific community in the field of DNA methylation related to thyroid cancer [ 43 , 44 , 45 , 46 ]. There is a strong relationship between genetic alterations and epigenetic aberrations in tumorigenesis [ 47 ].…”

Section: Discussionmentioning

confidence: 99%

Preliminary Study on the Sequencing of Whole Genomic Methylation and Transcriptome-Related Genes in Thyroid Carcinoma

Iqbal

Jiang

et al. 2022

Cancers

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Thyroid carcinoma is the most prevalent endocrine cancer globally and the primary cause of cancer-related mortality. Epigenetic modifications are progressively being linked to metastasis. This study aimed to examine whole-genome DNA methylation patterns and the gene expression profiles in thyroid cancer tissue samples using a MethylationEPIC BeadChip (850K), RNA sequencing, and a targeted bisulfite sequencing assay. The results of the Illumina Infinium human methylation kit (850K) analyses identified differentially methylated CpG locations (DMPs) and differentially methylated CpG regions (DMRs) encompassing nearly the entire genome with high resolution and depth. Gene ontology and KEGG pathway analyses revealed that the genes associated with DMRs belonged to various domain-specific ontologies, including cell adhesion, molecule binding, and proliferation. The RNA-Seq study found 1627 differentially expressed genes, 1174 of which that were up-regulated and 453 of which that were down-regulated. The targeted bisulfite sequencing assay revealed that CHST2, DPP4, DUSP6, ITGA2, SLC1A5, TIAM1, TNIK, and ABTB2 methylation levels were dramatically lowered in thyroid cancer patients when compared to the controls, but GALNTL6, HTR7, SPOCD1, and GRM5 methylation levels were significantly raised. Our study revealed that the whole-genome DNA methylation patterns and gene expression profiles in thyroid cancer shed new light on the tumorigenesis of thyroid cancer.

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Section: Discussionmentioning

confidence: 99%

Preliminary Study on the Sequencing of Whole Genomic Methylation and Transcriptome-Related Genes in Thyroid Carcinoma

Iqbal

Jiang

et al. 2022

Cancers

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“…The promoter methylation involving the RAS association family 1A (RASSF1A) tumor-suppressor gene was seen in approximately 30% of benign and malignant thyroid tumors, including anaplastic thyroid carcinoma; this finding has a role in regulating several key cell processes, suggesting that this change may occur early in tumorogenesis . 108 , 109 , 110 , 111 , 112 , 113 , 114 , 115 , 116 , 117 , 118 …”

Section: Ancillary Techniques Used For Differential Diagnosis Of Foll...mentioning

confidence: 99%

Follicular Growth Pattern Disease on Thyroid Fine-needle Aspiration Biopsy

2022

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Thyroid nodules are a common worldwide health problem and a diagnostic challenge for clinicians and cytopathologists. Follicular growth pattern constitutes the majority of thyroid lesions. Thyroid nodules can be neoplastic or non-neoplastic, and neoplastic nodules can be classified as benign, malignant, or gray zone. Gray zone lesions include different benign and malignant entities that might be resulted in unnecessary thyroidectomies with risk of morbidity and higher health care costs. Depending on the cellularity, most cases might fall into the follicular neoplasia (FN)/ suspicious for FN (SFN) category or follicular lesion of undetermined significance (FLUS) in The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC). Pathologists must be aware of the relationship between this diagnostic category and follow-up patient management and avoid over-diagnosing by mastering the diagnostic criteria.

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The role of 5-hydroxymethylcytosine as a potential epigenetic biomarker in a large series of thyroid neoplasm

Canberk

Gonçalves

Rios

et al. 2023

Preprint

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Cytosine modifications at the 5-carbon position play an important role in the regulation of gene expression, and its deregulation is considered a hallmark of cancer. Recent studies demonstrate that 5-hydroxymethylcytosine (5-hmC) generated through 5-methylcytosine (5-mC) oxidation is significantly depleted in several human cancers. Although its role in tumour progression is still unclear, 5-hmC loss has been proposed as a marker of tumour malignancy. Concerning thyroid tumours, the literature is scarce, and the studies are sparse with a low number of cases and limited diversity of histotypes, not allowing robust conclusions. In this work, we evaluated the levels of 5-hmC, by immunohistochemistry, in a retrospective series of 318 thyroid tumours, including benign, low-risk, and malignant, classified according to the 4th edition of WHO, and we correlate its expression with demographic and clinicopathological features of the patients and tumours, aiming to verify whether 5-hmC levels can be used as a diagnostic or prognostic marker. Our data show a significant association between loss of expression of 5-hmC and extrathyroidal extension, invasive/infiltrative capsule status, lymphovascular invasion, bilaterality, multifocality, tumour malignancy, and an unprecedented link with oncocytic morphology. Additionally, in a subgroup of 183 papillary thyroid carcinoma (PTC) cases, we also observed a statistically significant loss of 5-hmC in cases with TERT promoter mutations and distant metastasis. Our study evidences an important role for 5-hmC in thyroid tumourigenesis and indicates that 5-hmC levels have the potential to be used as a diagnostic and prognostic marker.

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Translational Potential of Epigenetic-Based Markers on Fine-Needle Aspiration Thyroid Specimens

Cited by 3 publications

References 76 publications

Preliminary Study on the Sequencing of Whole Genomic Methylation and Transcriptome-Related Genes in Thyroid Carcinoma

Preliminary Study on the Sequencing of Whole Genomic Methylation and Transcriptome-Related Genes in Thyroid Carcinoma

Follicular Growth Pattern Disease on Thyroid Fine-needle Aspiration Biopsy

The role of 5-hydroxymethylcytosine as a potential epigenetic biomarker in a large series of thyroid neoplasm

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