A prospective study of neurofibromatosis type 1 cancer incidence in the UK

Br J Cancer. 2006 Jul 17;95(2):233-8. doi: 10.1038/sj.bjc.6603227. Epub 2006 Jun 20.

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant condition affecting around one in 3000 live births. The manifestations of this condition are extremely variable, even within families, and genetic counselling is consequently difficult with regard to prognosis. Individuals with NF1 are acknowledged to be at increased risk of malignancy. Several studies have previously attempted to quantify this risk, but have involved relatively small study populations. We present prospective data from 448 individuals with NF1 with a total of 5705 years of patient follow-up. These data have been collected via the UK NF1 association for patients. Demographic information on the affected individuals was cross-referenced with UK cancer registry data by the UK Office of National Statistics. The overall risk of cancer was 2.7 times higher in this cohort of NF1 patients than in the general population (95% confidence interval (CI) 1.9-3.7). The cumulative risk of a malignancy by age 50 years was 20% (95% CI 14-29%); beyond this age, the risk of cancer was not significantly elevated (P=0.27). The most frequent types of cancer were connective tissue (14% risk by age 70, 95% CI 7.8-24%) and brain tumours (7.9, 95% CI 3.9-16%). There was no statistically significant excess of cancers at other sites (P=0.22).

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Child
  • Child, Preschool
  • Cohort Studies
  • Comorbidity
  • Female
  • Follow-Up Studies
  • Humans
  • Incidence
  • Infant
  • Male
  • Middle Aged
  • Neoplasms / epidemiology*
  • Neoplasms / genetics*
  • Neurofibromatosis 1 / epidemiology*
  • Neurofibromatosis 1 / genetics*
  • Prospective Studies
  • Risk Assessment
  • United Kingdom / epidemiology