Neurofibromatosis and cancer

Kebudi R.

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, vol.43, no.3, pp.80-83, 2008 (ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 43 Issue: 3
  • Publication Date: 2008
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.80-83
  • Keywords: Neurofibromatosis, optic glioma, sarcomas, NF1 GENE, TYPE-1
  • Istanbul University Affiliated: Yes


Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders and the major constituent of a family of diseases with widespread manifestations (including skin, viscera, nervous system and eyes) clinically known as "phakomatoses". Patients with NF1, carry a high risk of tumor formation. The most common central nervous tumor in NF1 is the optic pathway glioma (OPG). 0.6% of all childhood malignancies are associated with NF1. In patients with NF1 while the risk of developing OPG is 1000 times more than the normal population, the risk of developing brain and spinal tumors are 40, soft tissue sarcomas 50, juvenile myelomonocytic leukemia 200, acute lymphoblastic leukemia five times more than the normal population. General practitioners and pediatricians should be aware of signs and symptoms of neurofibromatosis. They should also know that the risk of tumor formation is increased in these patients, and early diagnosis is key point for the success of treatment.