Publications by authors named "Thais Junqueira"

Background: Adrenocortical cancer (ACC) is rare and aggressive, with YAP1 overexpression associated with poor outcomes in pediatric patients. In this study, we investigated the mechanisms by which YAP1 drives ACC progression and explored it as a potential target therapy.

Methods: YAP1 expression and methylation in ACC were analyzed from pediatric and adult cohorts.

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Pediatric sarcomas present heterogeneous morphology, genetics and clinical behavior posing a challenge for an accurate diagnosis. DNA methylation is an epigenetic modification that coordinates chromatin structure and regulates gene expression, determining cell type and function. DNA methylation-based tumor profiling classifier for sarcomas (known as sarcoma classifier) from the German Cancer Research Center (Deutsches Krebsforschungszentrum) was applied to 122 pediatric sarcomas referred to a reference pediatric oncology hospital.

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Embryonic tumors share few recurrent mutations, suggesting that other mechanisms, such as aberrant DNA methylation, play a prominent role in their development. The loss of imprinting (LOI) at the chromosome region 11p15 is the germline alteration behind Beckwith-Wiedemann syndrome that results in an increased risk of developing several embryonic tumors. This study analyzed the methylome, using EPIC Beadchip arrays from 99 sporadic embryonic tumors.

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Children diagnosed with pediatric adrenocortical tumors (pACT) have variable outcomes, and, to date, the disease lacks robust prognostic biomarkers. The prognostic potential of tumor methylation has been demonstrated in several cancers. We aimed to evaluate the pACT methylation profile and its association with disease presentation and survival.

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Article Synopsis
  • Pediatric adrenocortical tumors (pACT) show complex genomic profiles and lack clear prognostic markers and treatment options, prompting research into the Vitamin D3 receptor (VDR) for potential insights.
  • A study involving 108 pediatric patients found that most pACT had low VDR expression and high methylation, particularly in more aggressive carcinomas, suggesting a link between VDR status and disease severity.
  • The findings indicate that VDR hypermethylation and underexpression could serve as important predictive and prognostic biomarkers for pACT, affecting patient outcomes.
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