BAX gene (-248 G > A) polymorphism in a sample of patients diagnosed with thyroid cancer in the Federal District, Brazil.

INTRODUCTION: Papillary thyroid cancer corresponds to approximately 1% of all carcinomas; nevertheless, it is the most prevalent endocrine neoplasm in the world. Studies reveal that the BAX (-248 G > A) polymorphism may be associated with negative regulation of BAX gene transcription activity, causing a decrease in its protein expression. OBJECTIVE: The present study aimed to describe the genotype and allele frequencies of BAX single nucleotide polymorphisms (-248 G > A) (rs4645878) in the research patients, and to associate its presence with susceptibility to papillary thyroid cancer. METHODS: This case-control study was conducted with 30 patients with papillary thyroid cancer. For the evaluation of genetic polymorphisms, the polymerase chain reaction-restriction fragment length polymorphism technique was employed. Allele and genotype frequencies were estimated using the SPSS program, and significant associations were considered when p < 0.05. RESULTS: There was a significant genotypic difference between papillary thyroid cancer and the control group (p = 0.042). The GG genotype provided a protective factor for papillary thyroid cancer (p = 0.012, odds ratio (OR) = 0.313; confidence interval (CI) = 0.123-0.794). Likewise the G allele was a protective factor for papillary thyroid cancer (p = 0.009; OR = 0.360; CI = 0.163-0.793). The BAX gene polymorphism (-248 G > A) was associated with papillary thyroid cancer. CONCLUSION: BAX (-248 G > A) GG genotype carriers, or at least one mutated allele, was associated with papillary thyroid cancer in the Brazilian population studied, and the G allele presence is considered a protective factor against papillary thyroid cancer occurrence.

The impact of NOS3 gene polymorphism on papillary thyroid cancer susceptibility in patients undergoing radioiodine therapy.

Thyroid cancer is the most common endocrine cancer in the world. Noting that the NOS3 gene polymorphism interferes with nitric oxide production, this study aims to identify and analyze the NOS3 gene polymorphism in the intron 4 region in patients with papillary thyroid cancer. A case-control study was conducted with 31 papillary thyroid cancer patients of both genders who underwent thyroidectomy and treatment with sodium iodide radiopharmaceutical (131I) compared with 81 control patients. Through papillary thyroid cancer, the results were observed, compiled, and analyzed using SPSS version 25.0. The significance level of 5% was adopted. Genotypic frequencies of healthy subjects were in the Hardy-Weinberg equilibrium (P = 0.503). There was a significant genotypic difference between papillary thyroid cancer and healthy individuals (P <0.001). The BB genotype conferred a protective factor for papillary thyroid cancer (P <0.001, odds ratio (OR) 0.16; 95% confidence interval (CI) 0.06, 0.42), while the presence of the A allele appears to be a risk factor for papillary thyroid cancer (P <0.001, OR 3.54; 95% CI 1.86, 6.73). The intron 4 polymorphism of the NOS3 gene was associated with susceptibility to papillary thyroid cancer. Thus, future research into the effects of this polymorphism is essential.

Associação entre polimorfismos de citocinas inflamatórias com o carcinoma papilífero de tireóide / Association between inflammatory cytokine polymorphisms and papillary thyroid carcinoma / Asociación entre polimorfismos de citoquinas inflamatorias y carcinoma papilar de tiroides

Objetivo: Analisar a associação entre os polimorfismos dos genes IFNG e IL4 com o CPT, e suas características clínicas Método: Foram coletados o sangue de 30 pacientes portadores de CPT, e de 82 controles saudáveis. A genotipagem se deu através da técnica de PCR qualitativa. Os resultados foram cruzados com os níveis de TSH e Tiroglobulina dos pacientes com CPT e analisados com o programa SPSS 25.0. O estudo teve aprovação no comitê de ética sob CAAE 57382416.6.0000. 0023. Resultados: O genótipo AA do +874 A/T IFNG apresentou frequência de 60% nos participantes com CPT, nos controles o genótipo TA apareceu em 55,6%, o valor de significância foi p=0,0038. Em relação ao IL4, o genótipo B2/B2 foi o mais comum em ambos os grupos com significância de p=0,271. As amostras estavam em equilíbrio HW. Em relação as medianas de Tiroglobulina (ng/mL) e TSH (uUI/mL), foram observados os seguintes valores de significância respectivamente: p=0,612 e p=0,419 em relação ao IFNG e p= 0,431 e p=0,655, em relação ao IL4. Conclusão: Houve associação estatística com o polimorfismo +874 A/T IFNG e o CPT, entretanto não houve associação entre os níveis de TSH e tiroglobulina em pacientes com CPT. Em relação ao gene IL4 não foram observados significância entre a frequência genotípica e o CPT e os níveis de TSH e Tiroglobulina. O presente trabalho reforça a necessidade da produção de mais estudos acerca do tema a fim de estabelecer-se se de fato é possível afirmar se tais associações (ou ausência de associação) são de fato realidade no contexto do CPT.

Objective: To assess the association between IFNG and IL4 gene polymorphisms and CPT and their clinical characteristics Method: Blood was collected from 30 patients with CPT and 82 healthy controls. Method: Blood was collected from 30 patients with TLC and 82 healthy controls. Genotyping was performed by the qualitative PCR technique. Results were crossed with TSH and Thyroglobulin levels of patients with CPT and analyzed using the SPSS 25.0 program. The study was approved by the ethics committee under CAAE 57382416.6.0000. 0023. Results: The +874 A / T IFNG AA genotype showed a frequency of 60% in participants with CPT, in controls the genotype TA appeared in 55.6%, the significance value was p = 0.0038. Regarding IL4, the B2 / B2 genotype was the most common in both groups with significance of p = 0.271. The samples were in HW equilibrium. Regarding the median Thyroglobulin (ng / mL) and TSH (uUI / mL), the following significance values were observed respectively: p = 0.612 and p = 0.419 for IFNG and p = 0.431 and p = 0.655 for IL4. Conclusion: There was a statistical association with +874 A / T IFNG polymorphism and CPT, however there was no association between TSH and thyroglobulin levels in patients with CPT. Regarding the IL4 gene, no significance was observed between genotypic frequency and CPT and TSH and Thyroglobulin levels. The present work reinforces the need to produce more studies on the subject in order to establish if it is in fact possible to affirm if such associations (or absence of association) are in fact in the context of the CPT.

Objetivo: analizar la asociación entre IFNG y polimorfismos del gen IL4 con CPT y sus características clínicas Método: Se recogió sangre de 30 pacientes con CPT y 82 controles sanos. El genotipado se realizó mediante la técnica cualitativa de PCR. Los resultados se cruzaron con niveles de TSH y tiroglobulina de pacientes con CPT y se analizaron utilizando el programa SPSS 25.0. El estudio fue aprobado por el comité de ética bajo CAAE 57382416.6.0000. 0023. Resultados: El genotipo AAA IFNG +874 A / T presentó una frecuencia del 60% en los participantes con CPT, en los controles el genotipo TA apareció en el 55,6%, el valor de significación fue p = 0,0038. Con respecto a IL4, el genotipo B2 / B2 fue el más común en ambos grupos con un significado de p = 0.271. Las muestras estaban en equilibrio HW. Con respecto a las medianas de tiroglobulina (ng / ml) y TSH (uUI / ml), se observaron los siguientes valores de significancia respectivamente: p = 0.612 y p = 0.419 para IFNG y p = 0.431 y p = 0.655 para IL4. Conclusión: hubo asociación estadística con +874 A / T IFNG polimorfismo y CPT, pero no hubo asociación entre TSH y niveles de tiroglobulina en pacientes con CPT. Sobre el gen IL4, no se observó significación entre la frecuencia genotípica y los niveles de CPT y TSH y tiroglobulina. Eso trabajo refuerza la necesidad de producir más estudios sobre el tema para establecer si de hecho es posible afirmar si tales asociaciones (o ausencia de asociación) están de hecho en el contexto del CPT

Contrast-Enhanced Mammography (CEM) for Detecting Residual Disease after Neoadjuvant Chemotherapy: A Comparison with Breast Magnetic Resonance Imaging (MRI).

OBJECTIVE: To evaluate the performance of contrast-enhanced mammography (CEM) compared to magnetic resonance imaging (MRI) for estimating residual tumor size after neoadjuvant chemotherapy (NAC) in women with newly diagnosed breast cancer. METHODS: The institutional review board approved this study. This prospective study included women with newly diagnosed breast cancer who underwent breast CEM and MRI at the end of the last cycle of NAC and before definitive surgery. Size of residual malignancy on post-NAC CEM and MRI was compared with surgical pathology. Agreements and correlations of CEM and MRI measurements with histological size were assessed. RESULTS: Thirty-three patients were included with a mean age of 45 years (range 22-76). The sensitivity, specificity, and positive and negative predictive value for detection of residual disease of CEM were 76%, 87.5%, 95%, and 86.4%, and those of MRI were 92%, 75%, 92%, and 75%. Comparing CEM to MRI, the mean difference was -0.8 cm, concordance coefficient was 0.7, and Pearson correlation was 0.7 (p = 0.0003). The concordance coefficient between measurements of each imaging modality and pathologic tumor size was 0.7 for CEM and 0.4 for MRI. Pearson correlation was 0.8 for CEM and 0.5 for MRI. Mean differences between CEM, MRI, and residual histopathological tumor size were 0.8 cm and 1.8 cm, respectively. CONCLUSIONS: CEM has good correlation and agreement with histopathology for measuring residual disease after NAC. CEM was comparable to MRI, showing high positive predictive value and specificity for detecting residual disease.

The Role of the NIS (SLC5A5) Gene in Papillary Thyroid Cancer: A Systematic Review.

Papillary thyroid cancer (PTC) is the most common thyroid malignancy. Genetic and epigenetic alterations play a decisive role in the onset of several human neoplasms. Mutations and polymorphisms are two frequent genetic alterations. Located on chromosome 19 (19p13.11), the NIS SLC5A5 (solute carrier family 5 member 5) gene encodes a highly specialized and efficient 80-90 kDa transmembrane glycoprotein that mediates active transport of iodide from the bloodstream into the follicular cells. Given the highly significant role of NIS in the physiology and the cancer pathogenesis process, this paper's objective is to provide a comprehensive assessment of the associations between NIS gene and protein with papillary thyroid cancer.