Risk of sarcoma increased in survivors of retinoblastoma.

摘要

Survivors of hereditary retinoblastoma have an increased risk of developing soft-tissue sarcomas several decades after their original diagnosis, according to a new study (J Natl Cancer Inst 2007; 99: 24-31). The risk for six subtypes of soft-tissue sarcoma was assessed in a cohort of 963 1-year survivors of hereditary retinoblastoma diagnosed from 1914-1984: 69 soft-tissue sarcomas were identified in 68 patients (standardised incidence ratio [SIR] compared with population data 184 [95% CI 143-233]). The most common subtype was leiomyosarcoma (SIR 390 [247-585]). 78% of leiomyosarcomas were seen over 30 years after the original retinoblastoma diagnosis. Most sarcomas identified were in patients who had received radiotherapy for retinoblastoma, but 18 were outside the radiation field. The cumulative risk for any sarcoma 50 years after radiotherapy for retinoblastoma was 13.1% (9.7-17.0%). These findings suggest patients with germline RB1 mutations have a genetic pre-disposition to developing sarcoma.