Characteristics of Germline and Non-germline Retinoblastomas

Purpose: to discuss the clinical characteristics, treatment and outcomes of germline and non-germline retinoblastoma tumors. methods: a retrospective study was performed on retinoblastoma cases from 1979 to 2007. general characteristics of the patients, treatment modalities, histopathological findings and survival were compared in germline versus non-germline cases. results: we analyzed 557 cases of retinoblastoma with mean age of 32.2±22.0 months including 177 and 380 patients with germline and non-germline tumors, respectively. germline cases were significantly different from non-germline counterparts in terms of mean age (24.7±17.7 vs 35.7±23.0 months), symptoms (leukocoria in 49.4% vs 62.9%), and outcomes (death in 40.1% vs 13.9%), respectively (p<0.001). in the germline group 66.5% and in non-germline group over 97% of patients had stage va or higher (icrb d-e disease). disease-free survival was 48.6% for germlines cases versus 80.9% for nongermline patients (with mean follow up of 61.9 months, p<0.001). histopathologically, more invasions to intraocular and extraocular tissues were seen with non-germline tumors of (66% vs 39.8%). mortality rates in germline cases and non-germline were 40.1% and 13.9%, respectively (p<0.001). conclusion: despite higher tumor staging in nongermline cases at the time of diagnosis and therefore more aggressive behavior of the tumor, germline cases had a higher rate of mortality during the follow up period.