Soft-tissue sarcomas in children and adolescents with neurofibromatosis type 1

Abstract

Background: Patients affected by neurofibromatosis type 1 (NF1) are at higher risk of developing soft-tissue sarcomas (STS) than the general population. The clinical findings and outcome in 43 children and adolescents with NF1 treated for STS in the Italian protocols between 1988 and 2004 are reported.

Methods: The study included 37 patients with neurogenic sarcomas (36 malignant peripheral nerve sheath tumors [MPNST], 1 triton tumor) and 6 cases of rhabdomyosarcoma (RMS). The prevalence of NF1 observed during the study period was 43% in the MPNST population and 1% in the RMS group.

Results: Most patients with neurogenic sarcomas had large, invasive tumors. Five-year event-free and overall survival rates were 19% and 28%, respectively. Two of 16 patients with evaluable disease responded to chemotherapy. All 6 RMS patients were </=3 years old and had embryonal subtype, 5 of 6 arising in the genitourinary tract or pelvis (paravesical); 4 were alive in first remission at the time of the analysis, 1 was alive in second remission after a local recurrence, and 1 died of disease.

Conclusions: The occurrence of STS in pediatric patients with NF1 syndrome in Italy is discussed, confirming that NF1 patients have a high risk of developing STS, and particularly MPNST, often with an aggressive clinical presentation and poor outcome. Cases of RMS tended to have particular features (early age, embryonal histotype, genitourinary site) and their outcome seemed to resemble that of the general RMS population.