Based on characterization of both genomic and expression status of WT1 and CTNNB1 (beta-catenin) in a series of 60 Wilms tumor samples, combined with genome-wide expression profiling of these tumors, normal mature and fetal kidney controls, we show that WT1/beta-catenin expression was a better classifier than WT1/CTNNB1 mutations. We present molecular data supporting that the WNT pathway is involved in both tumor classes, with and without WT1/beta-catenin alterations. In the tumor class with WT1/beta-catenin alterations, we identified overexpression of 14 previously unreported WNT target genes, including TWIST1. We show that the TWIST1 protein was specifically expressed in these tumors, where staining was restricted to the stromal, nuclear beta-catenin positive, component. By comparing the state of the WNT pathway in tumors without WT1/beta-catenin alterations and fetal kidneys we provide evidence that suggests that these tumors have a heightened level of pathway activation. We characterized mutations of the WNT pathway regulator gene WTX in 16% of this tumor class. Moreover, genome-transcriptome correlation analysis allowed us to identify three other WNT pathway regulator genes that could participate in the activation of the WNT pathway: BCL9 (1p36.2), CTNNBIP1 (1p36.2), and CBY1 (22q13.1). These genes thus represent new potential important actors in WT tumorigenesis.
Objectives: To evaluate and compare the diagnostic potential of high resolution ultrasound with periapical radiographs (PR) and CBCT in assessing granulomas and radicular cysts. Methods: This study included a total of 33 teeth from 33 patients with periapical lesions. Subjects were distributed among three groups. A consisted of teeth that were extracted. B consisted of teeth treated with root-canal treatment followed by apical surgery. C consisted of teeth treated with root-canal treatment only. Pre-treatment PR, ultrasound and CBCT images were obtained for Groups A, B and C and 6 month post-treatment PR and ultrasound images were obtained for Groups B and C. In addition, histopathological analysis was performed on lesions in Groups A and B. Lesions were classified as either cystic lesions or granulomas. Width, height, depth, surface area and volume of lesions were measured using the built-in softwares of the appropriate imaging modalities. Measurements were compared by Wilcoxon and paired sample t tests. Ultrasound and histopathological findings were compared with κ and Mc Nemar. Statistical significance was set at p < 0.05. Results: κ coefficient (0.667; p = 0.002) suggested good agreement between ultrasound and histopathology. No statistically significant differences were found among periapical radiography, CBCT and ultrasound in the pre-treatment measurements of lesion width ( p = 0.308) or between CBCT and periapical radiography in the pre-treatment measurements of lesion height ( p = 0.863). In all cases, mean measurement values for all variables were lower for ultrasound than for CBCT. Conclusion: Ultrasound provided useful information for the diagnosis and assessment of granulomas and radicular cysts.
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