Of the ten patients who screened positive and carried pathogenic germline mutations, eight fulfilled clinical criteria for CPS including Li-Fraumeni syndrome (LFS, n = 3), DICER1 syndrome (n = 3), neurofibromatosis type 1 (NF1) (n = 1) and von Hippel-Lindau (VHL, n = 1) syndrome (Table 3). This evidence concerns the gene NF1 and Li-Fraumeni syndrome.