Characteristics of Germline and Non-germline Retinoblastomas

• Main Authors: Fariba Ghassemi, Hormoz Chams, Siamak Sabour, Reza Karkhaneh, Farzad Farzbod, Mehdi Khodaparast, Parvaneh Vosough
• Format: Article
• Language: English
• Published: Knowledge E 2014-01-01
• Series: Journal of Ophthalmic & Vision Research
• Subjects: Childhood Tumors; Epidemiology; Retinoblastoma; Germline; Non-germline
• Online Access: http://www.jovr.org/article.asp?issn=2008-322X;year=2014;volume=9;issue=2;spage=188;epage=194;aulast=Ghassemi

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.