Imbalance in DNA repair machinery is associated with BRAF V600E mutation and tumor aggressiveness in papillary thyroid carcinoma

Lutz, Bruna Schwengber; Leguisamo, Natalia Motta; Cabral, Nicole K.; Glória, Helena; Reiter, Keli C.; Agnes, Grasiela; Zanella, Virgílio Gonzales; Meyer, Erika L. Souza; Saffi, Jenifer

doi:10.1016/j.mce.2017.12.004

Cited by 14 publications

(12 citation statements)

References 44 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%

“…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. Our finding is similar to those reported in PTC patients diagnosed in cities from other Brazilian regions, such as Goiânia (74/116; 63,8%) and Porto Alegre (19/32; 59,4%) (19,20). Some studies have implied that the increased occurrence of BRAF (V600E) mutation in PTC may be associated with high dietary iodine intake (21).…”

Section: Discussionsupporting

confidence: 89%

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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: Discussionsupporting

confidence: 89%

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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“…These studies show interesting similarities: both of them observed a high prevalence of BRAF V600E mutation, conflicting with previous studies in Southeastern region (28.1 to 48.3%) (8,9) but in accordance with results obtained from Goiânia (63.8%) and Porto Alegre (59.4%) (10,11). These observations indicate a significant heterogeneity on the prevalence of BRAF V600E mutation among the different regions in Brazil.…”

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confidence: 76%

The long and still uncertain journey of BRAF as a prognostic tool in patients with papillary thyroid cancer

Scheffel

Maia

2019

Archives of Endocrinology and Metabolism

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“…In addition, BRAF (V600E) mutation, frequently observed in PTC, may influence the development and progression of PTC [40]. Besides, BRAF mutation may also affect gene expression in PTC cases [41,42]. In our study, K1 cells exert BRAF mutation, the tumor-promoting role of HSDL2 gene, or its interaction network in PTC presenting BRAF-wt remained poorly known.…”

Section: Discussionmentioning

confidence: 78%

Down-regulated HSDL2 expression suppresses cell proliferation and promotes apoptosis in papillary thyroid carcinoma

Zeng

Wang

et al. 2019

Bioscience Reports

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Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer. Hydroxysteroid dehydrogenase like 2 (HSDL2) can regulate lipid metabolism and take part in cell proliferation. The purpose of the present study was to explore functional role of HSDL2 gene in PTC. The expression of HSDL2 protein in PTC tissues was estimated using immunohistochemistry analysis (IHC). HSDL2 mRNA level was detected through quantitative real-time polymerase chain reaction (qRT-PCR). Effects of HSDL2 gene on cell proliferation and apoptosis were assessed using the shRNA method for both in vitro and in vivo experiments. Potential target genes of HSDL2 were determined via bioinformatics analyses and Western blotting. HSDL2 was up-regulated in PTC tissues and cell lines compared with the controls (all P<0.05). Inhibiting HSDL expression could suppress PTC cell proliferation and cycle, and promote apoptosis in vitro. In vivo, the knockdown of HSDL2 gene could significantly suppress tumor growth (all P<0.05). Furthermore, AKT3, NFATc2 and PPP3CA genes might be potential targets of HSDL2 in PTC. HSDL2 expression was increased in PTC tissues and cells, which could promote tumor progression in vitro and in vivo.

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Imbalance in DNA repair machinery is associated with BRAF V600E mutation and tumor aggressiveness in papillary thyroid carcinoma

Cited by 14 publications

References 44 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

The long and still uncertain journey of BRAF as a prognostic tool in patients with papillary thyroid cancer

Down-regulated HSDL2 expression suppresses cell proliferation and promotes apoptosis in papillary thyroid carcinoma

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