Background Congenital GBM (cGBM), presenting prenatally or
within the first months of life, is among the rarest type of congenital
brain tumor, with approximately 120 cases reported. Due to its
infrequent occurrence, few studies have focused on the molecular and
genetic aspects of this tumor, and the mutational events involved in the
pathogenesis and progression of cGBM still remains poorly understood.
This study aimed to investigate molecular alterations, with a potential
prognostic marker and therapeutic target in cGBM using the
next-generation sequencing (NGS) strategy. Methods We selected
seven tumor samples from patients diagnosed with cGBM and treated at
Pediatric Oncology Institute-GRAACC/UNIFESP. NGS was performed to
identify somatic genetic variants in tumor samples using the Oncomine
Childhood Cancer Research Assay panel, from
ThermoFisher Scientific, designed specifically for
pediatric neoplasms. Results Of all seven patients analyzed,
three patients exhibited tumors with genetic variants, which include two
pathogenic variants in NF1 and SUZ12 genes that have not
been reported in cGBM yet, an increase in the number of copies
of ALK gene, and two gene fusions, PPP1CB-ALK
and TPM3-NTRK1. Also, none of the cases showed variants
in H3F3A, TP53 and ATRX genes, alterations which
are frequently seen in pediatric and adolescent
GBM. Conclusions Our results suggest that cGBM may comprise a
unique tumor entity and alterations in ALK and NTRK genes
provide a potential target for therapy. Therefore, identification of
genetic variants in cGBM is highly relevant in order to define prognosis
and therapeutic strategies.