Neurofibromatosis and cancer Invited Editor

Abstract

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 Turk Arch Ped 2008; 43: 80 3 Key words: Neurofibromatosis optic glioma sarcomas

Keywords

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Nörofibromatoz ve kanser Çağrılı Editör

Öz

Nörofibromatoz NF tip1 otozomal baskın dominan geçen bir nörokutanoz bozukluktur Fakomatozlar olarak adlandırılan bir hastalık grubunun içinde yer alır ve en sık sinir sistemi deri iç organlar ve gözü tutar Nörofibromatozda tömör gelişme riski yüksektir Nörofibromatoz’da beyinde özellikle optik yolda gliyom gelişme riski yüksektir Tüm çocukluk çağı kanserlerinin 0 6’sı NF1 ile ilişkilidir Nörofibromatozlu hastalarda beyin ve spinal kanal tümör gelişim riski normal topluma göre 40 kat optik gliyoma gelişme riski 1000 kat yumuşak doku sarkomları riski 50 kat juvenil miyelomonositik lösemi gelişme riski 200 kat akut lenfoblastik lösemi ALL riski ise beş kat artmıştır Pratisyen hekim ve çocuk uzmanlarının nörofibromatoz tanı ölçütlerini ve bu çocuklarda benin ve malin tümörlerin gelişme riskinin yüksek olduğunu bilmeleri bu tümörlerin erken tanısı ve tedavi başarısı için önemlidir Türk Ped Arş 2008; 43: 80 3 Anahtar kelimeler: Nörofibromatoz optik gliyom sarkomlar

Anahtar Kelimeler

• Nörofibromatoz, optik gliyom, sarkomlar

Kaynakça

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