BibTex RIS Kaynak Göster

Neurofibromatosis and cancer Invited Editor

Yıl 2008, Cilt: 43 Sayı: 3, 80 - 83, 01.09.2008

Öz

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

Kaynakça

  • Anderson J, Pritchard-Jones K. The molecular basis of chil- dren’s cancer. In: Pinkerton R, Plowman PN, Pieters R (eds). Paediatric Oncology. London: Arnold Publishers, 2004: 25-51.
  • Ferner R E. Neurofibromatosis I and neurofibromatosis 2: a twen- ty first century perspective. The Lancet Neurology 6: 2007; 4: 1-20.
  • Plon SE, Malkin D. Childhood Cancer and Heredity. In: Pizzo PA, Poplack DG (eds). Principles and Practice of Pediatric Oncology. 5th edition. Philadelphia: Lippincott Williams and Wilkins, 2006: 14-37.
  • National Institutes of Health Consensus Development Conference Statement on Neurofibromatosis. Arch Neurol 1988: 45: 575-8.
  • Van der Luijt R, Mera Khan, Vasen H, et al. Rapid detection of translation-terminating mutations of the APC gene by direct protein truncating test. Genomics 1994: 20: 1-4.
  • Hofman KJ, Boehm CD. Familial neurofibromatosis type 1: cli- nical experience with DNA testing. J Pediatr 1992: 120: 394-8.
  • Upadhyaya M, Han S, Consoli C, et al. Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and ma- lignant tumors. Hum Mutat 2004: 23: 134-46.
  • Kebudi R, Tuncer S, Upadhyaya M, Peksayar G, Spurlock G, Yazici H. A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma. Pediatr Blood Cancer. 2008; 50: 713-5.
  • Kebudi R, Ayan İ. Interferon-alpha for neurofibromas. Medical and Pediatric Oncology 1996; 26: 220-2.
  • Listernick R, Lois DN, Packer RJ, et al: Optic pathway gliomas in children with neurofibromatosis type 1: Consensus statement from the NF1 optic pathway giloma study. J. Paediatr 1994; 125: 63-6.
  • Singhal S, Birch JM, Kerr B, et al. Neurofibromatosis type 1 and sporadic optic gliomas. Arch Dis Child 2002: 87: 65-70.
  • Khafaga Y, Hassounah M, Kandil A, et al. Optic gliomas: A ret- rospective analysis of 50 cases. Int J Radiat Oncol Biol Phys 2003: 56: 807-12.
  • Kebudi R, Ayrancı Ö, Tuncer S, et al. Optic pathway gliomas in children: A single institution study. Proceedings of American So- ciety of Clinical Oncology. J Clin Oncol 2007; 25: 725.
  • Lewis RA, Gerson LP, Axelson KA, et al. Von Recklinghausen neurofibromatosis: II. Incidence of optic gliomata. Ophthalmo- logy 1984: 91: 929-35.
  • Demaerel P, De Ruyter N, Casteels I, et al. Visual pathway glio- ma in children treated with chemotherapy. Eur J Pediatr Neurol 2002: 6: 207-12.
  • Kebudi R, Tuğcu D, Ayan İ, Görgün Ö. Diensefalik sendromlu bir olgu. Çocuk Dergisi 2007: 7; 69-71.
  • Kebudi R. Herediter retinoblastom-Nörofibromatosis ve kanser. İstanbul Üniversitesi Onkoloji Günleri: Herediter Kanserler Sem- pozyumu. Sempozyum Kitabı. 22-25 Aralık İstanbul 2007: 1-8.
  • Farner RE, Gutmann DH: International consensus statement on malignant peripheral nevre sheath tumers in neurofibromatosis 1. Canc Res 2002; 62: 1573-7.

Nörofibromatoz ve kanser Çağrılı Editör

Yıl 2008, Cilt: 43 Sayı: 3, 80 - 83, 01.09.2008

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

Kaynakça

  • Anderson J, Pritchard-Jones K. The molecular basis of chil- dren’s cancer. In: Pinkerton R, Plowman PN, Pieters R (eds). Paediatric Oncology. London: Arnold Publishers, 2004: 25-51.
  • Ferner R E. Neurofibromatosis I and neurofibromatosis 2: a twen- ty first century perspective. The Lancet Neurology 6: 2007; 4: 1-20.
  • Plon SE, Malkin D. Childhood Cancer and Heredity. In: Pizzo PA, Poplack DG (eds). Principles and Practice of Pediatric Oncology. 5th edition. Philadelphia: Lippincott Williams and Wilkins, 2006: 14-37.
  • National Institutes of Health Consensus Development Conference Statement on Neurofibromatosis. Arch Neurol 1988: 45: 575-8.
  • Van der Luijt R, Mera Khan, Vasen H, et al. Rapid detection of translation-terminating mutations of the APC gene by direct protein truncating test. Genomics 1994: 20: 1-4.
  • Hofman KJ, Boehm CD. Familial neurofibromatosis type 1: cli- nical experience with DNA testing. J Pediatr 1992: 120: 394-8.
  • Upadhyaya M, Han S, Consoli C, et al. Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and ma- lignant tumors. Hum Mutat 2004: 23: 134-46.
  • Kebudi R, Tuncer S, Upadhyaya M, Peksayar G, Spurlock G, Yazici H. A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma. Pediatr Blood Cancer. 2008; 50: 713-5.
  • Kebudi R, Ayan İ. Interferon-alpha for neurofibromas. Medical and Pediatric Oncology 1996; 26: 220-2.
  • Listernick R, Lois DN, Packer RJ, et al: Optic pathway gliomas in children with neurofibromatosis type 1: Consensus statement from the NF1 optic pathway giloma study. J. Paediatr 1994; 125: 63-6.
  • Singhal S, Birch JM, Kerr B, et al. Neurofibromatosis type 1 and sporadic optic gliomas. Arch Dis Child 2002: 87: 65-70.
  • Khafaga Y, Hassounah M, Kandil A, et al. Optic gliomas: A ret- rospective analysis of 50 cases. Int J Radiat Oncol Biol Phys 2003: 56: 807-12.
  • Kebudi R, Ayrancı Ö, Tuncer S, et al. Optic pathway gliomas in children: A single institution study. Proceedings of American So- ciety of Clinical Oncology. J Clin Oncol 2007; 25: 725.
  • Lewis RA, Gerson LP, Axelson KA, et al. Von Recklinghausen neurofibromatosis: II. Incidence of optic gliomata. Ophthalmo- logy 1984: 91: 929-35.
  • Demaerel P, De Ruyter N, Casteels I, et al. Visual pathway glio- ma in children treated with chemotherapy. Eur J Pediatr Neurol 2002: 6: 207-12.
  • Kebudi R, Tuğcu D, Ayan İ, Görgün Ö. Diensefalik sendromlu bir olgu. Çocuk Dergisi 2007: 7; 69-71.
  • Kebudi R. Herediter retinoblastom-Nörofibromatosis ve kanser. İstanbul Üniversitesi Onkoloji Günleri: Herediter Kanserler Sem- pozyumu. Sempozyum Kitabı. 22-25 Aralık İstanbul 2007: 1-8.
  • Farner RE, Gutmann DH: International consensus statement on malignant peripheral nevre sheath tumers in neurofibromatosis 1. Canc Res 2002; 62: 1573-7.
Toplam 18 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Türkçesi Varken
Yazarlar

Rejin Kebudi Bu kişi benim

Yayımlanma Tarihi 1 Eylül 2008
Yayımlandığı Sayı Yıl 2008 Cilt: 43 Sayı: 3

Kaynak Göster

APA Kebudi, R. (2008). Nörofibromatoz ve kanser Çağrılı Editör. Türk Pediatri Arşivi, 43(3), 80-83.
AMA Kebudi R. Nörofibromatoz ve kanser Çağrılı Editör. Türk Pediatri Arşivi. Eylül 2008;43(3):80-83.
Chicago Kebudi, Rejin. “Nörofibromatoz Ve Kanser Çağrılı Editör”. Türk Pediatri Arşivi 43, sy. 3 (Eylül 2008): 80-83.
EndNote Kebudi R (01 Eylül 2008) Nörofibromatoz ve kanser Çağrılı Editör. Türk Pediatri Arşivi 43 3 80–83.
IEEE R. Kebudi, “Nörofibromatoz ve kanser Çağrılı Editör”, Türk Pediatri Arşivi, c. 43, sy. 3, ss. 80–83, 2008.
ISNAD Kebudi, Rejin. “Nörofibromatoz Ve Kanser Çağrılı Editör”. Türk Pediatri Arşivi 43/3 (Eylül 2008), 80-83.
JAMA Kebudi R. Nörofibromatoz ve kanser Çağrılı Editör. Türk Pediatri Arşivi. 2008;43:80–83.
MLA Kebudi, Rejin. “Nörofibromatoz Ve Kanser Çağrılı Editör”. Türk Pediatri Arşivi, c. 43, sy. 3, 2008, ss. 80-83.
Vancouver Kebudi R. Nörofibromatoz ve kanser Çağrılı Editör. Türk Pediatri Arşivi. 2008;43(3):80-3.