RISK OF MALIGNANCY AND DEATH IN NEUROFIBROMATOSIS

Objective and Methods.-Neurofibromatoses are cancer-prone hamartomatos es that involve a variety of tissue and cell types. As part of a popul ation-based clinical and genetic study of neurofibromatosis in norther n Finland, all surgical and autopsy specimens of neurofibromatosis pat ients were retrieved and histologic slides were reviewed. Results.-Spe cimens were available for 69 of the 197 neurofibromatosis type 1 patie nts identified. Six malignant peripheral nerve sheath tumors and nine other malignant tumors were detected. In this study, the risk for neur ofibromatosis-related malignancy was 8%. Nine neurofibromatosis type 1 patients died, at a mean age of 37 years. The cause of death was rela ted to neurofibromatosis in eight. Conclusions.-The risk of developing malignant tumors and early death is increased in patients with neurof ibromatosis, the most common malignancy being malignant peripheral ner ve sheath tumors. These risks need to be recognized, and the families should be advised to seek genetic counseling and proper follow-up.