Intriguingly, germline CBL mutations have been recently found in a condition with clinical features partially overlapping NS and with predisposition to hematologic malignancies during childhood, as well as in diverse myeloproliferative disorders and myeloid leukemias as somatically acquired lesions [Martinelli et al., 2010; Niemeyer et al., 2010; Pérez et al., 2010]. This evidence concerns the gene CBL and myeloproliferative disorder.