Bone sarcomas arising in patients with neurofibromatosis type 1

J Bone Joint Surg Br. 2009 Sep;91(9):1223-6. doi: 10.1302/0301-620X.91B9.22299.

Abstract

We identified eight patients of 2900 with a primary malignant bone tumour who had coexisting neurofibromatosis type 1. This was a much higher incidence than would be expected by chance. The patients had a mean age of 22.4 years (9 to 54): five were male. Two patients subsequently developed a second bone sarcoma, one of which was radiation induced. Four of the primary tumours were osteosarcomas, four were spindle-cell sarcomas and one a Ewing's sarcoma. All the patients were treated with chemotherapy and surgery: six of the eight appear to be cured. This study suggests a possible relationship between neurofibromatosis type 1 and the development of a bone sarcoma, the increased risk being estimated at eight times that of the normal population. We recommend that further research into this possible link should be considered.

MeSH terms

  • Adolescent
  • Adult
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Bone Neoplasms / pathology*
  • Bone Neoplasms / therapy
  • Child
  • Dose-Response Relationship, Radiation
  • Female
  • Humans
  • Incidence
  • Male
  • Middle Aged
  • Neoplasms, Multiple Primary / pathology*
  • Neoplasms, Multiple Primary / therapy
  • Neoplasms, Radiation-Induced / pathology
  • Neoplasms, Radiation-Induced / therapy
  • Neurofibromatosis 1 / pathology*
  • Neurofibromatosis 1 / therapy
  • Osteosarcoma / pathology*
  • Osteosarcoma / therapy
  • Retrospective Studies
  • Soft Tissue Neoplasms / pathology*
  • Soft Tissue Neoplasms / therapy
  • Young Adult