DNA samples
Written informed consent was obtained from the parents of the two studied patients. Patient 1 was referred from Department of Pediatrics Hospital da Baleia - Brazil, and Patient 2 was referred from Hospital da Criança Conceição - Brazil.
Genomic DNA samples were extracted from peripheral blood of both patients and their available parents (mother of Patient 1 and father of Patient 2), and formalin-fixed paraffin-embedded (FFPE) tumor tissue (biopsy) from Patient 1. DNA from peripheral blood was isolated using phenol-chloroform extraction followed by Ethanol precipitation28. DNA from FFPE tumor sample was obtained in the AC Camargo Tumor Bank 29; tissue embedded in paraffin, direct cut (10 µg) and phenol-chloroform extraction were used.