A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

摘要: Anaplastic astrocytoma is a rare disorder in children from 10 to 14 years of age, with an estimated 0.38 new cases per 100,000 people year worldwide. Panel-based next-generation sequencing opens possibilities for diagnosis and therapy diseases such as this one. Because it has never been genetically studied the Ecuadorian population, we chose characterize pediatric patient anaplastic first time. Doing so allows us provide insights into treatment. Our was 13-year-old Mestizo girl extensive family history cancer who diagnosed astrocytoma. According ClinVar, SIFT, PolyPhen, harbored 354 genomic alterations 100 genes. These variants were mostly implicated deoxyribonucleic acid (DNA) repair. The top five most altered genes FANCD2, NF1, FANCA, FANCI, WRN. Even though TP53 presented only mutations, rs11540652 single-nucleotide polymorphism classified pathogenic found her relatives; interestingly, several reports have related Li-Fraumeni syndrome. Furthermore, silico analysis using Open Targets Platform revealed two clinical trials (studying cabozantinib, ribociclib, everolimus) 118 drugs that target patient’s variants, but studies not designed specifically treat Next-generation characterization diseases; instance, study unraveled syndrome identified possible variants. Molecular tools should be implemented routine practice early detection effective preemptive intervention delivery