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Arch Dis Child 87:65-70 doi:10.1136/adc.87.1.65
  • Acute paediatrics

Neurofibromatosis type 1 and sporadic optic gliomas

  1. S Singhal1,
  2. J M Birch2,
  3. B Kerr3,
  4. L Lashford4,
  5. D G R Evans1
  1. 1Department of Medical Genetics, St Mary's Hospital, Manchester M13 0JH, UK
  2. 2The Children's Tumour Register, Royal Manchester Children's Hospital, Pendlebury, Manchester, UK
  3. 3Department of Clinical Genetics, Royal Manchester Children's Hospital
  4. 4Department of Paediatric Oncology, Christie Hospital, Manchester M20 4BX, UK
  1. Correspondence to:
    Dr D G R Evans, Department of Medical Genetics, St Mary's Hospital, Manchester M13 0JH, UK;
    gevans{at}central.cmht.nwest.nhs.uk
  • Accepted 6 March 2002

Abstract

Aims: To compare the natural history of sporadic optic glioma with those associated with neurofibromatosis type 1 (NF1).

Methods: Optic glioma cases were identified using both the Manchester Children's Tumour Registry (CTR) and the North West Regional NF1 Database (NF1DB), with detailed information on natural history available from the former (in 34 of 36 cases identified).

Results: A total of 52 cases over a period of 41 years were identified. From the 34 whose natural history was known, almost all (n = 31) were symptomatic, with mean ages of presentation of 4.5 and 5.1 years for NF1 and sporadic cases respectively. The majority (n = 22) presented with visual impairment, seven of whom were blind in at least one eye. Sporadic cases were over twice as likely as NF1 to have visual impairment. Recurrence occurred in 12 patients. Fewer NF1 patients died as a direct result of their optic glioma, but overall mortality and 5 and 10 year survival rates between the two groups were similar. All five primary (non-metastatic) second central nervous system (CNS) tumours occurred in NF1 cases, two of these following radiotherapy.

Conclusions: Symptomatic sporadic optic gliomas presented with impaired vision more frequently and were more aggressive than NF1 optic gliomas. Only optic glioma cases with NF1 were at risk of developing a second CNS tumour. Aggressive treatment of sporadic optic gliomas and early surveillance of NF1 optic gliomas may be required. The use of radiotherapy in these children requires further clarification.

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