Publications by authors named "H Garcia-Rivello"
Somatic mutational profiling and clinical impact of driver genes in Latin-Iberian medulloblastomas: Towards precision medicine.
Neuropathology
May 2024
Medulloblastoma (MB) is the most prevalent malignant brain tumor in children, known for its heterogeneity and treatment-associated toxicity, and there is a critical need for new therapeutic targets. We analyzed the somatic mutation profile of 15 driver genes in 69 Latin-Iberian molecularly characterized medulloblastomas using the Illumina TruSight Tumor 15 panel. We classified the variants based on their clinical impact and oncogenicity.
View Article and Find Full Text PDFgene fusions have been detected in more than 25 types of tumors and their prevalence is approximately 0.3% in solid tumors. This low prevalence makes identifying patients who could benefit from TRK inhibitors a considerable challenge.
View Article and Find Full Text PDFObjective: The objective of this study was to describe the clinical and imaging characteristics and the evolution of heart transplantation patients due to anthracycline-induced cardiomyopathy.
Methods: Patients with a diagnosis of ACM who received a heart transplantation in our institution in the period of November 2009-April 2021 were included. Clinical characteristics, pre-transplant studies, and clinical outcomes after transplantation were collected retrospectively from the electronic medical record.
High frequency of WNT-activated medulloblastomas with wild type suggests a higher proportion of hereditary cases in a Latin-Iberian population.
Front Oncol
September 2023
Article Synopsis
- - Medulloblastomas, the most common brain tumors in children, are classified into subgroups with WNT-activated cases often linked to specific gene mutations; this study focuses on their occurrence in a Latin-Iberian population.
- - Analyzing 266 tumor samples from Brazil, Portugal, and Argentina, the researchers found that only 15% were WNT-activated, with 73% of these containing mutations; wild-type cases tended to occur more frequently in females and were associated with poorer outcomes.
- - The study revealed a lower incidence of mutations in WNT-activated medulloblastomas in the Latin-Iberian cohort than reported elsewhere, suggesting around 30% of these cases might be hereditary due to
Bone metastasis is one of the causes that mainly decrease survival in patients with advanced breast cancer. Therefore, it is essential to find prognostic markers for the occurrence of this type of metastasis during the early stage of the disease. Currently, cancer-associated fibroblasts, which represent 80% of the fibroblasts present in the tumor microenvironment, are an interesting target for studying new biomarkers and developing alternative therapies.
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