0000000001018745
AUTHOR
Antonio Juan Ribelles
showing 3 related works from this author
Next-Generation Sequencing Identifies Potential Actionable Targets in Paediatric Sarcomas
2021
Background: Bone and soft-tissue sarcomas represent 13% of all paediatric malignancies. International contributions to introduce next-generation sequencing (NGS) approaches into clinical application are currently developing. We present the results from the Precision Medicine program for children with sarcomas at a reference centre. Results: Samples of 70 paediatric sarcomas were processed for histopathological analysis, reverse transcriptase polymerase chain reaction (RT-PCR) and next-generation sequencing (NGS) with a consensus gene panel. Pathogenic alterations were reported and, if existing, targeted recommendations were translated to the clinic. Seventy paediatric patients with sarcomas…
Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care
2021
Knowledge about genetic predisposition to pediatric cancer is constantly expanding. The categorization and clinical management of the best-known syndromes has been refined over the years. Meanwhile, new genes for pediatric cancer susceptibility are discovered every year. Our current work shares the results of genetically studying the germline of 170 pediatric patients diagnosed with cancer. Patients were prospectively recruited and studied using a custom panel, OncoNano V2. The well-categorized predisposing syndromes incidence was 9.4%. Likely pathogenic variants for predisposition to the patient’s tumor were identified in an additional 5.9% of cases. Additionally, a high number of pathogen…
Alteraciones cromosómicas segmentarias como marcador pronóstico en neuroblastoma y sarcomas pediátricos
2020
NEUROBLASTOMA Tumor descrito por primera vez en por el patólogo alemán Virchow en 1864, el neuroblastoma (NB) es el tumor sólido extracraneal más frecuente entre la población pediátrica, y forma parte de los tumores derivados del sistema nervioso simpático (en cadena simpática o ganglios simpáticos). Otros tumores también derivados de la cresta neural son el ganglioneuroblastoma y el ganglioneuroma. Las características del neuroblastoma son las siguientes: - Capacidad de madurar de formas indiferenciadas (neuroblastomas) a formas maduras (ganglioneuroma). - Capacidad de regresar espontáneamente. - Buen pronóstico en pacientes menores de un año. - Comportamiento altamente agresivo en formas …