The NF1 syndrome, also known as von Recklinghausen disease, is caused by germline mutations in NF1. Mutations in NF1 are involved in numerous types of tumors such as desmoplastic melanoma, glioblastomas, neuroblastomas, PCPGs, gastrointestinal tumors, ovarian tumors and urinary tract transitional cell carcinoma [45]. The gene discussed is NF1; the disease is neurofibromatosis type 1.