Metastatic unilateral retinoblastoma to the contralateral orbital optic nerve presenting with optic disc edema

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

Malignant sacro-coccygeal teratoma with growing teratoma syndrome

A 13-month-old female with sacro-coccygeal tumor type II by Altman, was proven by biopsy to be a malignant germ cell tumor. Serum tumor markers were normal. During neo-adjuvant chemotherapy visible tumor progression was confirmed radiologically and progressed despite changing chemotherapy. The external growing mass forced its way out of the skin. More importantly, CT showed resolution of the pelvic component. Complete tumor resection with coccygectomy was performed. Histopathology showed mature teratoma, immature cells in the coccyx and no malignant germ cells. Three months after ending her therapy she remains in remission. We report the first case of growing teratoma syndrome (GTS) in the coccygeal region. Keywords: Sacro-coccygeal teratoma, Growing teratoma syndrom

Intravitreal Melphalan Chemotherapy for Vitreous Seeds in Retinoblastoma

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

Management outcome(s) in eyes with retinoblastoma previously inadequately treated with systemic chemotherapy alone without focal therapy

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