Tylectomy Safety in Salvage of Eyes with Retinoblastoma

Intraocular surgery is tabooed in retinoblastoma management, due to the concern of lethal extraocular spread. We reviewed the outcomes of consecutive children with intraocular retinoblastoma diagnosed at 29 Chinese centers between 2012–2014. We compared the outcomes of three categories of treatment: eye salvage including tylectomy (Group I), eye salvage without tylectomy (Group II), and primary enucleation (Group III). A total of 960 patients (1243 eyes) were diagnosed: 256 in Group I, 370 in Group II, and 293 in Group III; 41 patients abandoned treatment upfront. The estimated 5-year overall survivals (OS) were, for Group I, 94%, for Group II 89%, and for Group III 95%. The estimated 5-year disease-specific survivals (DSS) were, for Group I, 96%, for Group II 90%, and for Group III 95%. Patients in Group I had a significantly higher 5-year DSS than patients in Group II (p = 0.003) and not significantly different than patients in Group III (p = 0.367). Overall survival was not compromised by the inclusion of tylectomy in eye salvage therapy compared to eye salvage without tylectomy or primary enucleation. Disease-specific survival was better when tylectomy was included in eye salvage treatments. Tylectomy as part of multimodal treatment may contribute to the care of retinoblastoma patients with chemotherapy-resistant tumor, eyes with concomitant ocular complications, or at the risk of treatment abandonment.

Characterization of The Portuguese Population Diagnosed With Retinoblastoma

PurposeThe purpose of this study is to characterize demographically and genetically the Portuguese population with retinoblastoma; to report the clinical stage at presentation and its impact on survival and ocular preservation rate and, finally, to assess the incidence of retinoblastoma in Portugal.MethodsCohort retrospective observational study including children consecutively diagnosed with retinoblastoma at the Portuguese National Referral Center of Intraocular Tumors, between October 2015 and October 2020ResultsTwenty-eight children were diagnosed with retinoblastoma at our center, 15 hereditary from which 12 presented with bilateral retinoblastoma and 3 were unilateral. The overall mean age at diagnosis was 13.6 ± 11.1 months with hereditary retinoblastomas diagnosed slightly earlier at 9.6 ± 6.3 months. A familial history of retinoblastoma was found in only 4 (14.3%) of the cases. A pathogenic mutation in the RB1 gene was found in 13 (46.4%) of the children. The most frequent sign at referral was leukocoria in 71.4% of patients. Considering the ICRB classification of the tumors, 84.6% of non-hereditable hereditary retinoblastomas were referred to our center in advanced stages. In the group of hereditable retinoblastomas 86.7% presented with one of the eyes with advanced intraocular retinoblastoma. Fourteen children had one eye enucleated due to retinoblastoma. No deaths were registered during the study period. Considering the incidence analysis, we registered a year-of-birth controlled incidence analysis of 4.04 per 100.000 living births (IC 95% 1.59 – 6.49).Conclusion This is the first characterization of the Portuguese Population diagnosed with Retinoblastoma in the National Reference Center.

Complications of Selective Intraarterial Chemotherapy in Children with Intraocular Retinoblastoma

Introduction: Selective ophthalmic arterial injection (SOAI) therapy for intraocular retinoblastoma is currently recognized by the world ophthalmic-oncological communities and this method is used in leading specialized institutions. However, the using of this type of treatment can lead to complications. Side effects can be both systemic, affecting the course of the procedure itself, and local in nature, associated with intraocular changes.Purpose: Conduct an analysis of complications during SOAI in children with intraocular retinoblastoma.Material and methods: The study includes the results of treatment of 110 children (129 eyes) with unilateral and bilateral retinoblastoma who received SOAI both with insufficient efficacy of previous treatment for resistant and recurrent forms of RB (99 children / 116 eyes), and as primary local chemotherapy without previous treatment (11 patients / 13 eyes). 313 procedures were performed, of which the treatment stage was completed in 303 cases. Depending on the hemodynamic characteristics of the blood supply to the eye and the orbital region, 2 methods of delivering of the chemotherapy were used: 1) microcatheter technique (245 procedures performed; 81.0 %) 2) microballoon technique (58 procedures performed; 19.0 %).Results: The structure of the complications was as follows. 1. The group of intraoperative complications included: spasm of the ICA, cerebral arteries — 4 cases (1.3 %), acute cardio-respiratory manifestations and hemodynamic instability — 93 (29.7 %). 2. Group of general complications: cerebrovascular accident — 3 cases (0.9 %), hematological toxicity — 14 (4.5 %). 3. Group of local complications. A) External extraocular manifestations: transient eyelid edema — 49 (15.7 %), frontal arteritis — 2 (0.6 %), ptosis of the upper eyelid — 11 (3.5 %), ptosis and deviation of the eyeball — 2 ( 0.6 %), soft tissue necrosis — 1 (0.3 %). B) Intraocular manifestations: retinal detachment — 13 (4.2 %), chorioretinal atrophy — 4 (1.2 %), edema of the optic nerve head — 2 (0.6 %), atrophy of the optic nerve head — 1 (0.3 %), hemophthalmia — 3 (0.9 %).Conclusion: Modern interventional endovascular methods allow to carry out the SOAI safety and reduce the number of possible complications.

Risk factors for ophthalmic artery stenosis and occlusion in patients with retinoblastoma treated with intra-arterial chemotherapy

PurposeTo explore the risk factors for ophthalmic artery (OA) stenosis and occlusion after intra-arterial chemotherapy (IAC) with selective ophthalmic artery catheterisation (OAC) in the treatment of retinoblastoma.DesignRetrospective, single centre case-control study.MethodsThe study was conducted including consecutive patients with unilateral or bilateral intraocular retinoblastoma undergoing IAC between June 2016 and June 2019 with a follow-up time of 4 years. Main outcomes are rate of IAC-induced OA occlusion and OA diameter.Results346 attempted OAC infusions were successful. The total incidence of OA occlusion was 15.89%. The occlusion and control groups were similar in patients’ age, sex and disease stage. Median OA diameter was 0.49 mm in those with OA occlusion, and 0.66 mm in those without occlusion. In the occlusion group, the OA diameter difference was significantly larger between the first IAC and the final IAC (0.22mm vs 0.12mm, p=0.001). In both groups, the median number of IAC treatments was 3. Multivariate Cox regression models included initial OA diameter (OR: 0.005, p=0.001), ratio of OA orifice diameter differences between first and last IAC to the initial OA orifice diameter (OR: 4.661, p=0.003), and number of IAC (OR: 1.538, p=0.042) as clinical features significantly associated with OA occlusion.ConclusionsThe OA diameter at first IAC treatment, the ratio of OA orifice diameter differences between first and last IAC to the initial OA orifice diameter and total number of IAC treatments may be three main clinical predictors for OA occlusion after IAC for retinoblastoma.

Recurrent Somatic Chromosomal Abnormalities in Relapsed Extraocular Retinoblastoma

Most reports about copy number alterations (CNA) in retinoblastoma relate to patients with intraocular disease and features of children with extraocular relapse remain unknown, so we aimed to describe the CNA in this population. We evaluated 23 patients and 27 specimens from 4 centers. Seventeen cases had extraocular relapse after initial enucleation and six cases after an initial preservation attempt. We performed an analysis of CNA and BCOR gene alteration by SNP array (Single Nucleotide Polymorfism array), whole-exome sequencing, IMPACT panel and CGH array (Array-based comparative genomic hybridization). All cases presented CNA at a higher prevalence than those reported in previously published studies for intraocular cases. CNA previously reported for intraocular retinoblastoma were found at a high frequency in our cohort: gains in 1q (69.5%), 2p (60.9%) and 6p (86.9%), and 16q loss (78.2%). Other, previously less-recognized, CNA were found including loss of 11q (34.8%), gain of 17q (56.5%), loss of 19q (30.4%) and BCOR alterations were present in 72.7% of our cases. A high number of CNA including 11q deletions, 17q gains, 19q loss, and BCOR alterations, are more common in extraocular retinoblastoma. Identification of these features may be correlated with a more aggressive tumor warranting consideration for patient management.

The Results of Pars Plana Vitrectomy in the Treatment of Intraocular Retinoblastoma: A Retrospective Study and Literature Review

Purpose: To assess the efficacy and safety of pars plana vitrectomy (PPV) as a treatment for intraocular retinoblastoma (RB) patients. Methods: Twenty-eight RB patients who had PPV were recruited in this retrospective case study, using the digital wide-angle retinal imaging device to record and assess disease condition. Results: The mean value of follow-up time was 79.4 months from diagnosis and 73.1 months from PPV. Up to the end of the follow-up time after PPV, the 5-year survival rate was 96.4%. Ultimately, 35.7% patients underwent enucleation of the eyeball. Among patients with salvaged eyes, 50% had no light perception vision. During the postoperative follow-up time, 14.3% of patients required no further antitumor treatment, and the remaining patients still need to continue to receive systemic or local antitumor treatment, such as chemotherapy, arterial interventional therapy, laser treatment, cryotherapy, and so on. The complication after PPV include cataracts (46.4%), iris adhesion (7.1%), emulsification of the silicone oil (17.9%), band degeneration of the cornea (10.7%), glaucoma (3.6%), and retinal neovascularization (3.6%). Conclusion: According to our observations, we recommend that the utmost care should be taken when considering PPV for the treatment of activated RB. When weighing the risk of tumor recurrence and metastasis, PPV is not suitable for routine treatment. It is necessary to fully grasp the operative indications and strictly observe operation specifications, which includes close postoperative follow-up.