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Introduction: Pediatric orbital tumors encompass a wide spectrum of neoplasms, many of which are malignant small round cell tumors with overlapping histology. Sarcomas with BCOR genetic alterations are undifferentiated round cell sarcomas (URCS) characterized by BCOR rearrangements or internal tandem duplications, having distinct clinical features. Being previously unrecognized in the orbit, they have potential for misdiagnosis. Patients: We describe two cases of orbital sarcomas with BCOR genetic alterations. Results: Both girls, 8 and 16 months of age, respectively, presented with progressive proptosis. Both tumors showed sheets of round to ovoid cells with monomorphic nuclei and frequent mitoses. Delicate branching capillaries and myxoid stroma were absent. Diffuse BCOR, cyclin D1, and SATB2 immunopositivity was present. Conclusion: Orbital sarcomas with BCOR genetic alterations are extremely rare. Pathologists should have high index of suspicion for novel genetically defined entities in the differential diagnosis of pediatric orbital URCS and perform appropriate ancillary tests for accurate diagnosis. [ABSTRACT FROM AUTHOR]

Aim: To evaluate the role of ultrasound biomicroscopy (UBM) in retinoblastoma (RB). Methods: Children with advanced unilateral RB were included. UBM was performed to look for tumour invasion into the anterior segment (AS) and for evaluation of quantitative parameters. Enucleation was done and UBM findings were correlated with histopathology. The main outcome measures were sensitivity and specificity of UBM for detecting AS invasion and comparison of quantitative parameters between the tumour affected and fellow eyes. Results: Fifty patients were evaluated. The mean age was 2.76 ± 1.63 years. Enucleation was performed in 50 eyes. The sensitivity and specificity of UBM for AS invasion were 80% (95% CI, 44–97%) and 95% (95% CI, 83–99%), respectively. UBM showed a sensitivity and specificity of 100% (95% CI, 59–100%) and 95% (95% CI, 84–99%), respectively, for iris invasion, 88% (95% CI, 47–100%) and 100% (95% CI, 92–100%), respectively, for ciliary body invasion, and 63% (95% CI, 24–91%) and 100% (95% CI, 92–100%), respectively, for anterior chamber (AC) angle invasion. Quantitative parameters were studied in 100 eyes. As compared to the fellow eyes, the AC angle was narrow (p < 0.05), posterior chamber was shallow (p = 0.004) and zonular length was increased (p = 0.001) in RB eyes. Conclusion: This clinicopathological study provides valuable insights into the role of UBM for evaluation of anterior extension of RB and for assessment of architectural changes in the AS due to the tumour. [ABSTRACT FROM AUTHOR]

Phthisis bulbi denotes end-stage eye disease characterized by shrinkage and disorganization of the eye with the resultant functional loss. The major factors associated with the pathogenesis of phthisis are hypotony, deranged blood-ocular barriers, and inflammation. Common causes include trauma, surgery, infection, inflammation, malignancy, retinal detachment, and vascular lesions. A phthisical globe shows a small squared off shape, opaque and thickened cornea, thickened sclera, neovascularization of iris, cataract, cyclitic membrane, ciliochoroidal detachment, and retinal detachment. Microscopic features include internal disorganization, inflammatory reaction, a reactive proliferation of various cells, calcification, and ossification. Early treatment of the causative etiology is the best strategy available to avoid an eye from going into phthisis. A phthisical eye has no visual potential and cosmetic rehabilitation or symptomatic relief of pain remains the mainstay in the management. The authors present a comprehensive review of the etiopathogenesis, pathology, clinical features, and management of the end-stage ocular disease. [ABSTRACT FROM AUTHOR]

Purpose: Extraocular retinoblastoma with optic nerve invasion is treated by a multimodal protocol consisting of neoadjuvant chemotherapy, enucleation, and adjuvant therapy. This study was conducted to evaluate the performance of magnetic resonance imaging (MRI) used for tumor restaging in these children after systemic chemotherapy administration. Methods: Contrast-enhanced MRI scan of orbits and brain was performed at diagnosis and patients were treated with neoadjuvant chemotherapy. After chemotherapy, MRI scan was repeated for tumor restaging and residual post-laminar thickening and/or enhancement of the affected optic nerve, if any, was recorded. MRI findings were correlated with histopathology in enucleated specimens. The main outcome measures were specificity, sensitivity, and accuracy of MRI in predicting post-laminar invasion after neoadjuvant chemotherapy. Results: A total of 46 eyes (46 patients) were studied. Optic nerve thickening on MRI had a sensitivity, specificity, and accuracy of 100% (95% Confidence Interval (CI): 64.6-100%), 76.9% (95% CI: 61.7-87.4%), and 80.4% (95% CI: 66.8-89.4%), respectively. Optic nerve enhancement had a sensitivity, specificity, and accuracy of 85.7% (95% CI: 48.7-97.4%), 79.5 % (95% CI: 64.5-89.2%), and 80.4% (95% CI: 66.8-89.4%), respectively. Combined thickening and enhancement of the optic nerve had a sensitivity, specificity, and accuracy of 100% (95% CI: 60.9-100%), 82.4% (95% CI: 66.5-91.7%), and 85% (95% CI: 70.9-92.9%), respectively. Conclusion: MRI is a valuable tool for restaging of retinoblastoma and predicting residual optic nerve disease after neoadjuvant chemotherapy. Combined thickening and enhancement on MRI appeared to be a more reliable indicator of post-laminar invasion as compared to thickening or enhancement alone. [ABSTRACT FROM AUTHOR]

Second cancers in survivors of hereditary retinoblastoma occur much more commonly than in the general population. This can be attributed both to the germline mutation of the RB gene and chemoradiation used for treatment of this paediatric cancer. Medulloepithelioma is an uncommon tumor of neuroectodermal origin, seen largely in the paediatric population and rarely reported in adults. Though the incidence of second malignancies is common in retinoblastoma, medulloepithelioma as a second malignancy in retinoblastoma survivors is rare, with only one case reported so far. Herein, we present a case of a 29-year-old patient presenting with medulloepithelioma of the right orbit, arising in the radiation field of previously treated retinoblastoma. This case was also peculiar in that though the origin of tumor was in the eyeball it had a very aggressive clinical course. [ABSTRACT FROM PUBLISHER]

Background: To report the management and clinical outcome of children with unsuspected retinoblastoma who underwent trabeculectomy surgery. Methods: Three children who presented to us after trabeculectomy surgery were diagnosed with retinoblastoma. They were treated with enucleation of the affected eye. Histopathology of the enucleated eyeball showed tumor infiltration into the iris and the ciliary body in two cases, and massive choroidal invasion in the third case. Six cycles of adjuvant systemic chemotherapy with carboplatin, vincristine and etoposide were given. Results: The follow-up ranged from 18–48 months. At last follow-up, all children were alive and well, with no local recurrence or systemic metastasis. Conclusions: The management of retinoblastoma with operated trabeculectomy is challenging due to risk of tumor dissemination. Timely intervention can result in good clinical outcome. Nevertheless, a meticulous posterior segment evaluation to rule out retinoblastoma in children presenting with buphthalmos or secondary glaucoma should always be considered. [ABSTRACT FROM AUTHOR]

Spontaneous extrusion of a retained intraocular foreign body is a rare occurrence. An unusual case is described in a 30-year-old male, where a foreign body remained in the eye for four years and then, as phthisis set in, the foreign body gradually extruded, causing constant irritation of the upper lid. Such a situation has not been documented before. Its management along with the histopathologic features are discussed in the light of the available literature. [ABSTRACT FROM AUTHOR]

A 65-year-old woman was diagnosed clinically to have a tarsal conjunctival malignant melanoma of the upper eyelid. She also had multiple, diffusely, pigmented, flat conjunctival lesions. No local or distant metastasis was detected. She was treated conservatively by a combination of surgery and cryotherapy as this was her only seeing eye. Histopathology of the tumor tissue and biopsy specimens of the flat coniunctival lesions proved them to be conjunctival malignant melanoma and primary atypical melanosis with atypia, respectively. Over a follow-up of two years, no clinical recurrence of the tumor was seen. To conclude, a malignant melanoma arising from the tarsal conjunctiva is extremely rare. The goal of treatment should be eradication of the rumor as well as preservation of a functionally and cosmetically acceptable eye. [ABSTRACT FROM AUTHOR]

Purpose: Retinoblastoma is usually seen in children before 5 years of age. We report an unusual case of retinoblastoma in an adult who presented to us with an orbital mass. Methods: A 24 year-old-male presented to our centre with a history of protrusion of the right eye for 6 months, and associated loss of vision. Ultrasonography B-scan revealed an intraocular mass with calcification and MRI of the orbits showed extra-ocular spread. An incisional biopsy was taken from the orbital mass. Results: On biopsy, histopathologic features and immunohistochemical stains were consistent with retinoblastoma. Conclusion: To our knowledge, this is the first report of retinoblastoma presenting as an orbital mass in adulthood and highlights the importance of considering this tumour in the differential diagnosis of an intraocular mass with orbital extension in an adult patient. [ABSTRACT FROM AUTHOR]

Purpose: To describe the clinicopathologic features and management of an unusual case of orbital teratoma. Methods: A 7-year-old girl presented with a history of an orbital mass since birth. CT scan showed a large mass lesion involving the right orbit, with absence of the eyeball. An ectopic tooth was identified within the tumor. Lid-sparing exenteration surgery was performed. Results: Histopathologic examination of the excised mass showed presence of elements from all three germ layers, consistent with a diagnosis of mature orbital teratoma. Normal ocular structures were not identified on histopathology. At one year follow-up, there was no tumor recurrence. Conclusion: We report an extremely rare and interesting case of a mature orbital teratoma, which was associated with primary anophthalmos and an ectopic tooth. [ABSTRACT FROM AUTHOR]

Erdheim-Chester disease (ECD) is an exceedingly rare, disseminated non-Langerhan cell histiocytosis with multisystem involvement, having characteristic sclerotic skeletal lesions. We present an unusual case primarily manifesting as an extensive orbital disease, with low-grade systemic involvement. Owing to its rarity and therefore lack of general awareness it remains a difficult clinical and pathologic diagnosis. Immuno-histochemistry of the biopsy specimen is diagnostic. [ABSTRACT FROM AUTHOR]

Reports on the case of a 50-year-old man presented with primary orbital plasmacytoma and fungating growth in the left eye of three months duration. Clinical diagnosis; Results of immunohistochemistry; Indications for diagnosis and treatment.

Purpose: Extraocular retinoblastoma with optic nerve invasion is treated by a multimodal protocol consisting of neoadjuvant chemotherapy, enucleation, and adjuvant therapy. This study was conducted to evaluate the performance of magnetic resonance imaging (MRI) used for tumor restaging in these children after systemic chemotherapy administration. Methods: Contrast-enhanced MRI scan of orbits and brain was performed at diagnosis and patients were treated with neoadjuvant chemotherapy. After chemotherapy, MRI scan was repeated for tumor restaging and residual post-laminar thickening and/or enhancement of the affected optic nerve, if any, was recorded. MRI findings were correlated with histopathology in enucleated specimens. The main outcome measures were specificity, sensitivity, and accuracy of MRI in predicting post-laminar invasion after neoadjuvant chemotherapy. Results: A total of 46 eyes (46 patients) were studied. Optic nerve thickening on MRI had a sensitivity, specificity, and accuracy of 100% (95% Confidence Interval (CI): 64.6-100%), 76.9% (95% CI: 61.7-87.4%), and 80.4% (95% CI: 66.8-89.4%), respectively. Optic nerve enhancement had a sensitivity, specificity, and accuracy of 85.7% (95% CI: 48.7-97.4%), 79.5 % (95% CI: 64.5-89.2%), and 80.4% (95% CI: 66.8-89.4%), respectively. Combined thickening and enhancement of the optic nerve had a sensitivity, specificity, and accuracy of 100% (95% CI: 60.9-100%), 82.4% (95% CI: 66.5-91.7%), and 85% (95% CI: 70.9-92.9%), respectively. Conclusion: MRI is a valuable tool for restaging of retinoblastoma and predicting residual optic nerve disease after neoadjuvant chemotherapy. Combined thickening and enhancement on MRI appeared to be a more reliable indicator of post-laminar invasion as compared to thickening or enhancement alone. [ABSTRACT FROM AUTHOR]