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Retinoblastoma (Rb) is a malignant eye tumor that poses a significant risk of mortality once metastasized. We present the case of a 30-month-old girl with left-sided Rb who underwent primary enucleation with pathology-confirmed diagnosis without high-risk pathologic features. Therefore she did not receive adjuvant chemotherapy. Six months later, the patient developed skull bone and bone marrow metastasis, which were treated with systemic chemotherapy, excision of bone metastasis, focal radiation treatment to the site of osseous metastasis, and bone marrow transplantation. Follow-up for two years was unremarkable until she presented with vision loss in the remaining contralateral eye. Ophthalmic examination revealed severe optic disc edema without intraocular masses, initially thought to be optic neuritis. However, the patient did not respond to steroids, and the initial cerebrospinal fluid (CSF) analysis was negative. This was repeated based on high clinical suspicion of metastasis, revealing only a few malignant cells. The presentation and appearance of the optic nerve were considered metastasis-related and treated with radiation therapy, which resulted in dramatic clinical and radiological improvement. Unfortunately, a few weeks later, the patient developed lower limb weakness, and imaging showed diffuse leptomeningeal metastasis, confirmed by CSF findings. This case represents the first documented isolated contralateral optic nerve metastasis in Rb. [ABSTRACT FROM AUTHOR]

To study the impact of a Retinoblastoma (Rb) screening program in the absence of genetic testing on the management and outcome of high-risk children. This is a retrospective, clinical case series of 76 children from families involved in a Rb screening program as they had higher than normal risk as calculated by the conventional ways without genetic testing. Data included calculated risk, method of diagnosis, demographics, tumor features, treatment modalities, and management outcome. Out of the 76 children screened, 46 children were diagnosed with Rb (12 by screening and 34 had signs of Rb), the other 30 were free of disease. Patients diagnosed by screening were younger (mean; 2.4 months vs 15.8 months for the group with signs of Rb), had significantly earlier tumor stage at diagnosis (p =.0001), higher eye salvage rate (p =.0001), less need for systemic chemotherapy (p =.022), and better visual outcome (p =.0017) than the other group. None of the eyes were group D or E, enucleated or irradiated. Six (50%) patients were cured without chemotherapy, and the visual acuity was 0.5 or better in 55% of eyes. Of interest, 71% of tumors were diagnosed by the age of 6 months, 90% by the age of 1 year, and no new tumor appeared after the age of 2 years. Even in the absence of genetic testing, screening for children with high risk for Rb is effective in enhancing early diagnosis, improving visual outcome, and increasing eye salvage rate with limited exposure to treatment burden. [ABSTRACT FROM AUTHOR]

Objective. To evaluate our experience with intravitreal melphalan chemotherapy as a second-line regimen for RB patients with refractory or recurrent vitreous seeds. Methods. A retrospective case series of 16 eyes from 16 patients with intraocular RB who received intravitreal melphalan chemotherapy using the antireflux injection technique. Data included demographics, stage at diagnosis, treatment modalities, side effects, eye salvage, and survival. Results. The total number of injections was 64 (median, 3 injections per eye; range, 3–8), and the median age at time of injection was 22 months (range, 9–63 months). Nine (56%) patients were males, and 13 (81%) patients had bilateral RB. Complete response was seen in 13 (81%) eyes: in 9 (100%) eyes with focal vitreous seeds and in 4 (57%) eyes with diffuse vitreous seeds (P = 0.062). At a median follow-up of 18 months (range, 6–48 months), the eye salvage rate was 81%, local retinal toxicity confined to the site of injection was seen in 2/3 of the eyes, 2 (12%) eyes had cataract, and none of the patients had orbital recurrence and distant metastasis or was dead. Conclusion. Intravitreal melphalan is a promising modality for treatment of vitreous seeds, and the dose of 20–30 μg of melphalan sounds to be safe and effective for refractory and recurrent vitreous seeds. [ABSTRACT FROM AUTHOR]

We report a case of concomitant choroidal hemangioma in an eye that harbored intraocular retinoblastoma (RB) in a 1-year-old child. A 12-month-old boy presented with right white pupil (Leukocoria). The initial clinical diagnosis was unilateral intraocular RB Group C. The eye was treated initially by systemic chemotherapy combined with focal consolidation therapy followed by I-125 plaque radiotherapy. Massive sub-retinal recurrence was seen 4 months later, and Magnetic Resonance Imaging (MRI) showed extra-scleral invasion of the tumor, and therefore enucleation was performed. Microscopic examination revealed a differentiated retinoblastoma associated at the site of the base of the tumor with choroidal hemangioma with trans-scleral invasion. Orbit MRI was repeated 3 months after the surgery, and there was no orbital tumor recurrence. We are reporting a rare case of pathologically concomitant choroidal hemangioma with trans-scleral invasion in an eye that harbored active recurrent intraocular RB. This trans-scleral extension of hemangioma was misinterpreted by MRI as extraocular retinoblastoma and resulted in enucleation. [ABSTRACT FROM AUTHOR]

OBJECTIVE: The objective of this study was to evaluate the outcome of management in eyes with intraocular retinoblastoma (RB) that had received inadequate initial therapy (chemotherapy without focal therapy) before eventually receiving necessary consolidation therapy at a tertiary referral center. METHODS: A retrospective observational case series of 30 eyes from 26 RB patients who had initially received systemic chemotherapy as a sole therapy. The main outcome measures were demographics, laterality, International Classification of RB (ICRB), treatments, tumor control, and survival. RESULTS: The median age at diagnosis was 24 months and the median delay between time at diagnosis and time at referral to a tertiary center that has adequate focal therapy for RB was 9.5 months (range 5-20 months). Sixteen (62%) patients were monocular from enucleation of the contralateral eye. Features of ICRB Group A tumors were seen in 3 (10%) eyes, Group B in 7 (23%) eyes, Group C in 2 (7%) eyes, Group D in 16 (53%) eyes, and Group E in 2 (7%) eyes. Eighteen (69%) patients required more systemic chemotherapy (median, 4.4 cycles; range, 2-8 cycles), and 8 (26%) eyes received local chemotherapy (subtenon, intravitreal, or intra-arterial). All treated eyes received consolidation therapy as transpupillary thermotherapy and/or cryotherapy. Radioactive plaque therapy was used in 1 (3%) eye and external beam radiation therapy in 3 (10%) eyes. At a mean follow-up of 13 months (median, 11.5 months; range, 9-27 months), enucleation was avoided in 25 (83%) eyes. Two (7%) eyes were enucleated initially, and 3 (10%) were enucleated after failure of additional therapy. Twenty-three (77%) eyes did not show any viable tumor after a median of 11.5 months of follow-up after the last treatment, and 2 (7%) eyes still have residual tumor recurrences that need more consolidation focal therapy. CONCLUSION: Chemotherapy alone cannot eradicate RB cells in effected eyes without combination with consolidation therapy by a multidisciplinary team to salvage the affected eye as well as its vision. Nonetheless, chemotherapy can be initiated (to keep the tumor at a less invasive stage) for patients from centers or countries where combination therapy is not available until they gain access to adequate management of RB. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate our experience with systemic Toptecan (TPT) chemotherapy as a second-line systemic chemotherapeutic regimen for treatment of refractory or recurrent intraocular retinoblastoma (RB). Methods and Materials: A retrospective case series of 14 eyes from patients with intraocular Retinoblastoma (RB) who received systemic TPT as second-line chemotherapy from April 2008 until June 2010. The following data were collected: patient demographics, laterality, international intraocular retinoblastoma stage (ICRB) at diagnosis, treatment received before and after TPT, side effects related to TPT, eye salvage, and survival. Results: The median age at diagnosis was 5 months (range, 1–16 months), and the median age at starting TPT was 10 months (range, 8–24 months). There were 6 (60%) females; all with bilateral retinoblastoma. The median number of TPT cycles was three per patient (range, 1–6), and the total number of administered cycles was 29. After TPT therapy; 4 (29%) eyes showed favorable response, 3 (21%) eyes showed minimal regression, 5 (36%) eyes had stable disease, and 2 (14%) eyes showed tumor progression. At a median follow-up of 48 months; 9 (64%) eyes were salvaged, 3 (21%) eyes received radiation therapy, and 3 (21%) eyes were enucleated (one was post radiation). Grade 3/4 neutropenia were noticed in a total of 59% of given cycles and admission for febrile neutropenia was required after seven cycles. Conclusions: Our report suggests that systemic TPT chemotherapy could be used as a salvage second-line regimen with low toxicity for patients with progressive intraocular retinoblastoma if systemic therapy is needed. [ABSTRACT FROM AUTHOR]

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We report a case of concomitant choroidal hemangioma in an eye that harbored intraocular retinoblastoma (RB) in a 1-year-old child. A 12-month-old boy presented with right white pupil (Leukocoria). The initial clinical diagnosis was unilateral intraocular RB Group C. The eye was treated initially by systemic chemotherapy combined with focal consolidation therapy followed by I-125 plaque radiotherapy. Massive sub-retinal recurrence was seen 4 months later, and Magnetic Resonance Imaging (MRI) showed extra-scleral invasion of the tumor, and therefore enucleation was performed. Microscopic examination revealed a differentiated retinoblastoma associated at the site of the base of the tumor with choroidal hemangioma with trans-scleral invasion. Orbit MRI was repeated 3 months after the surgery, and there was no orbital tumor recurrence. We are reporting a rare case of pathologically concomitant choroidal hemangioma with trans-scleral invasion in an eye that harbored active recurrent intraocular RB. This trans-scleral extension of hemangioma was misinterpreted by MRI as extraocular retinoblastoma and resulted in enucleation.

Purpose: To evaluate our experience with systemic Toptecan (TPT) chemotherapy as a second-line systemic chemotherapeutic regimen for treatment of refractory or recurrent intraocular retinoblastoma (RB)., Methods and Materials: A retrospective case series of 14 eyes from patients with intraocular RB who received systemic TPT as second-line chemotherapy from April 2008 until June 2010. The following data were collected: patient demographics, laterality, international intraocular retinoblastoma stage (ICRB) at diagnosis, treatment received before and after TPT, side effects related to TPT, eye salvage, and survival., Results: The median age at diagnosis was 5 months (range, 1-16 months), and the median age at starting TPT was 10 months (range, 8-24 months). There were 6 (60%) females and 9 (90%) patients; all with bilateral retinoblastoma. The median number of TPT cycles was three per patient (range, 1-6), and the total number of administered cycles was 29. After TPT therapy; 4 (29%) eyes showed favorable response, 3 (21%) eyes showed minimal regression, 5 (36%) eyes had stable disease, and 2 (14%) eyes showed tumor progression. At a median follow-up of 48 months; 9 (64%) eyes were salvaged, 3 (21%) eyes received radiation therapy, and 3 (21%) eyes were enucleated (one was post radiation). Grade 3/4 neutropenia were noticed in a total of 59% of given cycles and admission for febrile neutropenia was required after seven cycles., Conclusions: Our report suggests that systemic TPT chemotherapy could be used as a salvage second-line regimen with low toxicity for patients with progressive intraocular retinoblastoma if systemic therapy is needed.

Purpose: To evaluate the predictive value of the seventh edition American Joint Committee on Cancer (AJCC/UICC) TNM classification, the International Classification of Retinoblastoma (ICRB), and Reese-Ellsworth staging for retinoblastoma for the likelihood of high-risk pathologic features., Methods: A retrospective study of 50 primarily enucleated eyes from 49 retinoblastoma patients. Main outcome measures included demographics, TNM stage, ICRB group, Reese-Ellsworth stage, choroid, optic nerve, and anterior chamber invasion., Results: The median age at enucleation was 30 months. High-risk pathologic features mandating adjuvant chemotherapy were seen in 5 of T2 eyes (22%), in 15 of T3 eyes (56%) (P = 0.021), in 1 of ICRB Group C eyes (13%), 8 of Group D eyes (33%), and 11 of Group E eyes (61%) (P = 0.035). High-risk pathologic features were 4.61 and 3.68 times more likely to be diagnosed at a more advanced T stage and ICRB group consecutively, whereas 0.133 time less likely to be diagnosed at a more advanced Reese-Ellsworth stage. At median follow-up of 40 months, no single case had metastasis or was dead., Conclusion: The higher tumor clinical TNM stage and the more advanced ICRB group at presentation are associated with higher frequency of high-risk pathologic features and may predict which patients should receive adjuvant chemotherapy.

Objective: To analyze the histopathologic features of the eyes with intraocular retinoblastoma primarily treated by enucleation in a tertiary cancer center in Jordan., Material and Method: A retrospective case series of 50 eyes for 49 patients who had pathologically confirmed retinoblastoma after enucleation as primary therapy. The main outcome measures included demographics, laterality, international classification of intraocular retinoblastoma, choroid invasion, optic nerve invasion, anterior chamber invasion, and tumor differentiation., Results: The median age at enucleation was 30 months. Twenty-seven (55%) patients were males, and 19 (39%) patients had bilateral retinoblastoma. High risk pathological features were seen as massive choroid invasion in 9 (18%) eyes, post-laminar optic nerve invasion in 7 (14%) eyes, and anterior chamber, iris or ciliary body invasion in 7 (14%) eyes. Thirty-seven (74%) tumors were well/moderately differentiated, and 13 (26%) were poorly differentiated. Poorly differentiated tumors presented later (median 31 months) than well/ moderately differentiated tumors (26 months) and were associated with a higher incidence of high-risk pathological features. No single ICRB group C eye had high-risk pathological features, while 17% and 4% of group D eyes and 28% and 33% of group E eyes had massive choroid invasion and post-laminar optic nerve invasion, respectively. Eighteen (36%) patients received adjuvant chemotherapy for high risk pathological features, and at median follow up of 40 months, no single case had metastasis or was dead., Conclusion: Our pathologic findings were similar to the developed world. They were supportive of the predictive power of the international classification of retinoblastoma staging system for the likelihood of high risk pathological features. Poorly differentiated tumors were associated with a higher incidence of high risk pathological features than well/moderately differentiated tumors.