ABSTRACT
Retinoblastoma (Rb) is a pediatric malignant eye tumor. Subsequent malignant neoplasms (SMNs) and trilateral Rb (TRb) are the leading cause of death in heritable Rb patients in developed countries. The high rate of SMNs in heritable Rb patients is attributed to the presence of a mutation in the RB1 tumor suppressor gene. In addition, Rb therapy choices also influence SMN incidence in this patient group. The incidence rates and age of occurrence for the most frequent SMNs and TRb will be discussed. In addition, the impact of genetic predisposition and Rb treatments on the development of SMNs will be evaluated. Furthermore, screening and other prevention methods will be reviewed.
ABSTRACT
Hereditary retinoblastoma survivors have substantially increased risk of subsequent malignant neoplasms (SMNs). The risk of benign neoplasms, a substantial cause of morbidity, is unclear. We calculated the cumulative incidence of developing benign tumors at 60 years following retinoblastoma diagnosis among 1128 hereditary (i.e., bilateral retinoblastoma or unilateral with family history, mutation testing was not available) and 924 nonhereditary retinoblastoma survivors diagnosed during 1914-2006 at two US medical centers with follow-up through 2016. Using Cox proportional hazards regression, we compared benign tumor risk by hereditary status and evaluated the association between benign tumors and SMNs. There were 100 benign tumors among 73 hereditary survivors (cumulative incidence = 17.6%; 95% confidence interval [CI] = 12.9-22.8%) and 22 benign tumors among 16 nonhereditary survivors (cumulative incidence = 3.9%; 95%CI = 2.2-6.4%), corresponding to 4.9-fold (95%CI = 2.8-8.4) increased risk for hereditary survivors. The cumulative incidence after hereditary retinoblastoma was highest for lipoma among males (14.0%; 95%CI = 7.7-22.1%) and leiomyoma among females (8.9%; 95%CI = 5.2-13.8%). Among hereditary survivors, having a prior SMN was associated with 3.5-fold (95%CI = 2.0-6.1) increased risk of developing a benign tumor; the reciprocal risk for developing an SMN after a benign tumor was 1.8 (95%CI = 1.1-2.9). These large-scale, long-term data demonstrate an increased risk for benign tumors after hereditary versus nonhereditary retinoblastoma. If confirmed, the association between benign tumors and SMNs among hereditary patients may have implications for long-term surveillance.
ABSTRACT
The aim of this systematic review is to assess the latest age at diagnosis for detection of familial retinoblastoma in order to evaluate at what age screening of at-risk children could be discontinued. Extended screening beyond this age would result in unnecessary patient burden and costs. However, discontinuing screening prematurely would have the adverse effect of missing tumors. We performed a literature search (PubMed, Embase, CINAHL and the Cochrane Library) up until February of 2021 and systematically included studies where patients had a family history of retinoblastoma, a known age at diagnosis, and who were ophthalmologically screened for retinoblastoma from birth. A total of 176 familial retinoblastoma patients from 17 studies were included in this review. Based on 48 months of age being the latest age of diagnosis, ophthalmological screening for familial retinoblastoma could safely be discontinued at age four years.
ABSTRACT
PURPOSE: To compare the use of human donor sclera with bovine pericardium as patch graft material for a glaucoma drainage device (GDD), with respect to the incidence of tube exposure, and to study the role of a drainage suture. METHODS: All GDD surgeries between 2010 and 2014 performed at the VU Medical Center were examined in this comparative, retrospective cohort study. A total of 244 cases were included; 163 in the human donor sclera cohort and 81 in the bovine pericardium cohort with a median follow-up of 31 and 36 months, respectively. The primary outcome measure was occurrence of tube exposure. Survival analysis for tube exposure was carried out and Kaplan-Meier curves compared. Secondary outcomes were postoperative intraocular pressure (IOP), number of glaucoma medications and the effect of a drainage suture. RESULTS: In the bovine pericardium cohort, eleven (13.6%) eyes developed tube exposure compared to none in the human donor sclera cohort. Their Kaplan-Meier survival curves differed significantly from each other (χ² = 21.1, p < 0.001, log-rank test). Mean IOP and number of glaucoma medications did not differ significantly between patch graft materials at three months of follow-up. The use of a drainage suture directly lowered IOP after surgery in both cohorts. Within the bovine pericardium cohort, eyes with a drainage suture experienced more tube exposure, although this difference was not statistically significant (p = 0.09). CONCLUSION: Human donor sclera leads to less tube exposure than bovine pericardium. A drainage suture directly lowers IOP after surgery. With bovine pericardium, but not with donor sclera, exposure tends to be enhanced by a drainage suture.
