mRNA BRAF expression helps to identify papillary thyroid carcinomas in thyroid nodules independently of the presence of BRAFV600E mutation

Araújo, Priscila Pereira Costa; Marcello, Marjory Alana; Tincani, Álfio José; Guilhen, Ana Carolina Trindade; Morari, Elaine Cristina; Ward, Laura Sterian

doi:10.1016/j.prp.2012.05.013

Cited by 11 publications

(8 citation statements)

References 27 publications

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“…Because we selected consecutive cases, only patients classified into the stage I/II were included in the present study. However, our results are in accordance with the majority of Brazilian studies, which did not find correlation between BRAF mutations and PTC aggressive phenotype (15)(16)(17)(18)(19)(20). In contrast, Oler and Cerutti reported that the BRAF (V600E) mutation was associated with tumour size, ETE, lymph node metastasis, high risk of recurrence and mortality in PTC patients (14).…”

Section: Discussionsupporting

confidence: 91%

“…The prevalence rates of the BRAF (V600E) mutation in PTC range between 27.3 to 90.2% worldwide (12,13). Most Brazilian studies that investigated the presence of BRAF mutation in FFPE or fresh frozen PTC samples were conducted in the South-eastern region, mainly in the State of Sao Paulo (14)(15)(16)(17)(18). While these studies reported BRAF (V600E) frequencies between 28.1 to 48.3%, we noted a higher prevalence rate (65.1%) in PTC patients in the present study.…”

Section: Discussionmentioning

confidence: 99%

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Association between BRAF (V600E) mutation and clinicopathological features of papillary thyroid carcinoma: a Brazilian single-centre case series

Pessôa‐Pereira¹,

Medeiros²,

Lima³

et al. 2019

Archives of Endocrinology and Metabolism

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Objectives: We aimed to investigate the prevalence of the BRAF (V600E) mutation in consecutive cases of papillary thyroid carcinoma (PTC) in patients diagnosed and treated at the Hospital Sao Rafael (Salvador, BA, Brazil) and evaluate its association with clinical and pathological characteristics of PTC. Subjects and methods: We retrospectively enrolled in the study a total of 43 consecutive PTC patients who underwent total thyroidectomy. We performed DNA extraction from formalinfixed paraffin-embedded (FFPE) tumour tissue samples. Polymerase chain reaction (PCR) and direct sequencing were used to determine BRAF (V600E) mutation status. Univariate and multivariate logistic regression analyses were employed to identify independent associations. Results: The prevalence of BRAF (V600E) mutation was 65.1% (28/43). A high frequency of older patients (p value: 0.004) was observed among the BRAF-mutated PTC group and, in contrast, a low frequency of concurrent Hashimoto's thyroiditis (HT) (p value: 0.011) was noted. Multivariate analysis confirmed that older age (OR: 1.15; 95% CI: 1.00-1.33; p value: 0.047) and HT (OR: 0.05; 95% CI: 0.006-0.40; p value: 0.005) were independent factors associated with BRAF (V600E) mutation. Conclusion: We found a high prevalence of BRAF (V600E) mutation in PTC cases. Older age and no concurrent HT were independently associated with BRAF (V600E) mutation.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Association between BRAF (V600E) mutation and clinicopathological features of papillary thyroid carcinoma: a Brazilian single-centre case series

Pessôa‐Pereira¹,

Medeiros²,

Lima³

et al. 2019

Archives of Endocrinology and Metabolism

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“…Although the role of the human ortholog of Pat1 (Pat1b) in kinetochore function has not been defined, nuclear localization of Pat1b has been observed in humans (Marnef et al 2012). Furthermore, mutations and misregulation of Pat1b have been observed in several human cancers (Araujo et al 2012;Liu et al 2012;Dulak et al 2013). Hence, future studies aimed at understanding the role of the human homolog of Pat1 in the structure and function of the kinetochore may help us identify potential therapeutic targets for cancer therapy.…”

Section: Discussionmentioning

confidence: 99%

Structural Integrity of Centromeric Chromatin and Faithful Chromosome Segregation Requires Pat1

2013

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The kinetochore (centromeric DNA and associated protein complex) is essential for faithful chromosome segregation and maintenance of genome stability. Here we report that an evolutionarily conserved protein Pat1 is a structural component of Saccharomyces cerevisiae kinetochore and associates with centromeres in a NDC10-dependent manner. Consistent with a role for Pat1 in kinetochore structure and function, a deletion of PAT1 results in delay in sister chromatid separation, errors in chromosome segregation, and defects in structural integrity of centromeric chromatin. Pat1 is involved in topological regulation of minichromosomes as altered patterns of DNA supercoiling were observed in pat1Δ cells. Studies with pat1 alleles uncovered an evolutionarily conserved region within the central domain of Pat1 that is required for its association with centromeres, sister chromatid separation, and faithful chromosome segregation. Taken together, our data have uncovered a novel role for Pat1 in maintaining the structural integrity of centromeric chromatin to facilitate faithful chromosome segregation and proper kinetochore function.

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“…The emergence of proteomics and genomics techniques has helped to shed light on other possible thyroid tumor markers. Gnomonic research has found that PTC and MTC are associated with point mutations in K-RAS and BRAF genes, and that FTC harbors PAX8-PPAR gamma fusions genes 11 12 13 . Proteomic analysis using 2D-gel and mass spectrometry has found associations of several proteins with thyroid tumor malignancy 11 14 15 .…”

mentioning

confidence: 99%

Integrative metabonomics as potential method for diagnosis of thyroid malignancy

Tian

Nie

et al. 2015

Sci Rep

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Thyroid nodules can be classified into benign and malignant tumors. However, distinguishing between these two types of tumors can be challenging in clinics. Since malignant nodules require surgical intervention whereas asymptomatic benign tumors do not, there is an urgent need for new techniques that enable accurate diagnosis of malignant thyroid nodules. Here, we used 1H NMR spectroscopy coupled with pattern recognition techniques to analyze the metabonomes of thyroid tissues and their extracts from thyroid lesion patients (n = 53) and their adjacent healthy thyroid tissues (n = 46). We also measured fatty acid compositions using GC−FID/MS techniques as complementary information. We demonstrate that thyroid lesion tissues can be clearly distinguishable from healthy tissues, and malignant tumors can also be distinguished from the benign tumors based on the metabolic profiles, both with high sensitivity and specificity. In addition, we show that thyroid lesions are accompanied with disturbances of multiple metabolic pathways, including alterations in energy metabolism (glycolysis, lipid and TCA cycle), promotions in protein turnover, nucleotide biosynthesis as well as phosphatidylcholine biosynthesis. These findings provide essential information on the metabolic features of thyroid lesions and demonstrate that metabonomics technology can be potentially useful in the rapid and accurate preoperative diagnosis of malignant thyroid nodules.

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mRNA BRAF expression helps to identify papillary thyroid carcinomas in thyroid nodules independently of the presence of BRAFV600E mutation

Cited by 11 publications

References 27 publications

Association between BRAF (V600E) mutation and clinicopathological features of papillary thyroid carcinoma: a Brazilian single-centre case series

Association between BRAF (V600E) mutation and clinicopathological features of papillary thyroid carcinoma: a Brazilian single-centre case series

Structural Integrity of Centromeric Chromatin and Faithful Chromosome Segregation Requires Pat1

Integrative metabonomics as potential method for diagnosis of thyroid malignancy

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