Research Information System
Turkish Journal of Pediatrics, vol.67, no.5, pp.611-622, 2025 (SCI-Expanded, Scopus, TRDizin)
Neurofibromatosis type 1 (NF1) is characterized by the involvement of multiple systems, including dermatological, neurological, skeletal, and cognitive manifestations. NF1 exhibits almost complete penetrance, with a wide range of symptoms that usually develop over the course of a person’s lifetime. The most obvious signs are café-au-lait macules, neurofibromas and axillary or inguinal freckling.Patients with NF1 are predisposed to developing benign and malignant tumors. Some of these tumors are exhibited during childhood. The rate of cancer development over a person’s lifetime is higher for patients with NF1 than for the general population. Malignancies associated with NF1 include low grade gliomas, malignant peripheral nerve sheath tumors, juvenile myelomonocytic leukemias, pheochromocytomas, gastrointestinal stromal tumors, rhabdomyosarcomas, breast cancers, malignant melanomas, acute lymphoblastic leukemias, non-Hodgkin lymphomas, carcinoid tumors, and Wilms tumors. The identification of patients with NF1 and their interittent follow-up are important for the early detection of potential complications, especially tumorigenesis. This review aimed to summarize NF1-associated tumors in pediatric patients and recently developed targeted therapies for treating these tumors.