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.