Detección de marcadores moleculares mediante biopsia líquida en tumores cerebrales pediátricos y del adolescente.

Abstract

Pediatric Central Nervous System (CNS) tumors are the most frequent solid neoplasms and the main cause of cancer mortality in pediatric ages. Due to their localization and infiltrative nature, some tumor resections or biopsies are not feasible and they could carry great morbidity. In those cases, the use of minimally invasive methods as diagnostic, molecular marker detection, prognostic or monitoring therapies are emerging. The analysis of liquid biopsies which contain genetic information from the tumor has been much more widely explored in adults than in children. In this doctoral thesis, the detection of the BRAF V600E targetable mutation by digital PCR from circulating DNA (ctDNA) of a cohort of 29 pediatric patients with brain tumors was compared in three different sources of liquid biopsy: serum, plasma and cerebrospinal fluid (CSF). Here we demonstrate that ctDNA isolated from serum and plasma could be successfully analyzed to obtain tumor genetic information which could be used to guide critical treatment decisions.