Jose J Echegaray, Yahya A Al-Zahrani, Arun Singh
Background/Aims To report visual outcomes, survival outcomes and complications following episcleral brachytherapy (EB) for retinoblastoma.
Methods Retrospective review of retinoblastoma cases treated with EB in a single institution. Survival outcomes were analysed using the Kaplan-Meier method.
Results Eleven tumours of 11 eyes were treated with either iodine-125 or ruthenium-106 EB with a mean apical dose of 44 Gy. The tumours were classified as group B in 5 (46%), C in 3 (27%) or D in 3 (27%) eyes, respectively. Mean follow-up time was 75.4 months. EB served as primary treatment in 3 eyes (27%) and secondary treatment in 8 eyes (73%). Final visual acuity was better than 20/200 in 70% of cases. Globe preservation was achieved in 9 (82%) eyes. Local recurrence occurred in 18% of cases at a mean onset of 17.4 months after EB. Two group D tumours that recurred after secondary EB underwent enucleation. Mean onset of radiation retinopathy was 17.4 months following EB. No metastatic or fatal events were recorded. Kaplan-Meier analysis showed recurrence-free survival and ocular survival of 80% and overall survival of 100% at 5 years after EB.
Conclusion EB is an effective primary or secondary treatment modality for selected retinoblastoma eyes (groups B and C). Advanced group D tumours may represent a risk factor for local recurrence. Visually significant complications such as radiation retinopathy should be anticipated.
Feras M Ghazawi, Rami Darwich, Michelle Le, Elham Rahme, Andrei Zubarev, Linda Moreau, Julia Valdemarin Burnier, Denis Sasseville, Miguel N Burnier, Ivan V Litvinov
Background In the developed countries, uveal melanoma is the most common primary intraocular malignancy in adults. Little is known about the epidemiological and geographical distribution of uveal melanoma in Canada.
Methods To determine the incidence patterns and geographical distribution of uveal melanoma cases in Canada, we conducted the first comprehensive, population-based national study of this malignancy across all Canadian provinces and territories during 1992–2010 years. We examined two independent population-based registries: the Canadian Cancer Registry and Le Registre Québécois du Cancer using corresponding International Classification of Diseases for Oncology-3rd edition codes for all histological subtypes of uveal melanoma.
Results We report that 2215 patients were diagnosed with uveal melanoma, of which 52.1% were males. The average -annual incidence rate of uveal melanoma in Canada was 3.75 cases per million individuals per year (95% CI 3.60 to 3.91). Overall, we report a steady increase in uveal melanoma incidence with an annual increase of 0.074 cases per million individuals per year. Significant differences in the incidence rates of uveal melanoma between Canadian provinces and territories were noted, where the highest crude incidence was in British Columbia and Saskatchewan with rates of 6.38 and 5.47 cases per million individuals per year, respectively.
Conclusions This work, for the first time, defines the disease burden of uveal melanoma in Canada and highlights important longitudinal, geographical and spatial differences in the distribution of uveal melanoma in Canada.
Syed Ahmed, Syed Shahid, Manuel Saldana
To present a rare case of a conjunctival tumour, in a patient who presented to the Ophthalmology department at Eastbourne District General Hospital with ocular surface symptoms.
Review of patient case notes and electronic patient record.
An 83‐year old man presented with a 6‐month history of dry, gritty sensation in the right eye with a recent reduction in vision. He had a history of previously treated squamous cell carcinoma of the scalp. Examination revealed a large lesion extending from the conjunctival surface onto the temporal aspect of the cornea. The visual acuity was 6/12 with pinhole and there was no affect on ocular motility. Systemic evaluation did not suggest any features of metastatic disease and an MRI scan was unremarkable. The patient underwent an incisional biopsy of the lesion and histopathology showed a moderately differentiated adenocarcinoma with oncocytic features. Immunohistochemistry was positive for CK5/6, CK7, EMA and p63. He underwent successful excision of the lesion with adjuvant chemotherapy.
Oncocytic adenocarcinoma (OCA) is a rare epithelial tumour that usually arises from the ductal cell lining of apocrine glandular structures. The oncocytes have a distinctive large size with granular acidophilic cytoplasm secondary to the presence of extensive mitochondria with fragmented cristae. The tumour is more commonly associated with the kidneys, thyroid and salivary glands. Cases within the eye although rare are associated with caruncle, lacrimal sac, accessory lacrimal glands of the conjunctiva and in the lacrimal gland. Cytokeratin (CK) are intermediate filaments found in the cytoskeleton of epithelial tissue and are used in the differential diagnosis of neoplasms as their expression varies with cell origin. CK5/6 found to be expressed in our patient is a marker of stratified squamous epithelium. The patient was also negative for CK 20 expression which would be seen in simple epithelium.
Swathi Kaliki, Sai Divya Jajapuram
PURPOSE: The purpose was to study the clinical features, treatment, and outcome of retinoblastoma (RB) in neonates. METHODS: This was a retrospective study of five patients with RB detected in the 1st month of life. RESULTS: The mean age at diagnosis of RB was 22 days (median, 24 days; range, 14–28 days). There were one female and four males with neonatal RB. Two patients had a known family history of RB, and the tumor was detected by routine fundus screening in these children. Two patients were brought in with complaints of leukocoria and one patient with complaints of red-eye. All patients had an intraocular tumor at presentation. Four patients had bilateral involvement, whereas only one had unilateral involvement. Based on the International Classification of Intraocular Retinoblastoma, the tumors were classified as Group A (n = 2), Group B (n = 3), Group C (n = 1), Group D (n = 1), and Group E (n = 2). Macular involvement was noted in 6 (67%) eyes. The primary treatment included systemic chemotherapy with/without focal treatment in all patients. One patient subsequently underwent secondary enucleation as the globe became phthisical. One child died while on treatment due to pneumonia secondary to chemotherapy-induced neutropenia. Of the four patients who completed treatment, globe salvage was achieved in 6 (86%) eyes over a mean follow-up period of 89 months (median, 92 months; range, 29–144 months). CONCLUSION: Neonatal RB though rare, if detected early, has a favorable outcome of ocular and life salvage. Sporadic RB can occur in neonates, and a family history may not always be elicited.
Paula Cortes Barrantes, Frederick A. Jakobiec & Thaddeus P. Dryja
Rhabdomyosarcoma (RMS) is the most common sarcoma of childhood and adolescence. Approximately 10% arise in the orbit, where the embryonal type is most common variant. The alveolar variant is less frequent and has a worse prognosis. Cytogenetic studies have revealed that most alveolar rhabdomyosarcomas have translocations involving the PAX and the FOX01 genes, giving rise to fusion genes that contribute to lack of differentiation and proliferation of the tumor cells. However, approximately 20% of alveolar rhabdomyosarcomas lack translocations and have been found to behave more similarly to embryonal cases. Histopathology remains the basis of diagnosis, but cytogenetic features and molecular signatures are becoming part of the routine analysis of RMS, since they determine not only prognosis, but also management and treatment regimens. A comprehensive review of the recent published literature in relation to orbital rhabdomyosarcomas and their cytogenetic features as well as clinical and therapeutic implications will be discussed.
Imran Jivraj, Gino R. Somers, Michel J. Belliveau, David Malkin, Dan D. DeAngelis
This case highlights the management of orbital rhabdomyosarcoma in a child with Li Fraumeni syndrome (LFS). Treatment with chemotherapy and eventual orbital exenteration enabled margin-free control of the tumor. Radiation therapy was avoided to reduce the risk of inducing additional malignancy. Reactive orbital hyperostosis was observed postoperatively and was confirmed with surgical biopsy of the orbital roof. In this case, systemic surveillance imaging, which is necessary in patients with LFS, revealed an adrenal cortical carcinoma.
Mudhar H.S. · Prydal J. · Rennie I.G.
A 38-year-old female, otherwise fit and well, presented with a mass on her left medial bulbar conjunctiva that had been enlarging for several months. Examinations showed a fixed pinkish tumour, 9 mm in maximum extent, spanning from the plica to the medial limbus. The tumour was removed in toto. Histology revealed it to be a biphasic tumour composed of lobules and infiltrative cords within a sclerotic matrix. The cells were spindle-shaped to epithelioid, with nuclear atypia and occasional mitotic figures. The tumour was positive for smooth muscle actin, beta-catenin, and vimentin. All other markers of myoepithelial differentiation and cytokeratins were negative. Genetic analysis showed no evidence of EWSR1 or PLAG1 rearrangements. The light microscopic features and immunohistochemistry strongly supported a tumour with myoepithelial differentiation. The cellular atypia, mitotic activity, and infiltrative edges all pointed to myoepithelial carcinoma. Body imaging/screening showed no evidence of tumour elsewhere, supporting that the tumour was a primary of the conjunctiva. This is the first report of a myoepithelial tumour of the conjunctiva. The patient remains recurrence-free after 3 years of follow-up.
Basil K. Williams Jr., Maura Di Nicola, Sandor Ferenczy, Jerry A. Shields, Carol L. Shields
To describe the clinical and imaging findings and treatment options in a series of patients with iris microhemangiomatosis.
Retrospective observational case series.
Setting: Single institution. Study Population: Twenty-two eyes of 14 consecutive patients with iris microhemangiomatosis were reviewed. Observation Procedures: Clinical examination and slit-lamp photography were performed on every patient. Anterior segment optical coherence tomography (AS-OCT), anterior segment optical coherence tomography angiography (AS-OCTA), anterior segment intravenous fluorescein angiography (AS-IVFA), and ultrasound biomicroscopy were performed when possible. Main Outcome Measures: Clinical and imaging features and treatment strategies.
Twenty-two eyes of 14 patients with iris microhemangiomatosis were included in this series. Mean patient age was 70 years (range, 58–82 years), and all patients were white. The iris hemangiomatosis appeared as subtle, multifocal, ectatic vascular channels arranged circumferentially at the pupillary margin. Iris color was blue (n = 19 eyes) or green (n = 3 eyes), and the features were unilateral (n = 6 patients) or bilateral (n = 8 patients). Additional features included reduced visual acuity (n = 13 eyes), hyphema (n = 12 eyes), and glaucoma (n = 7 eyes). There was no history of ocular trauma or systemic vasculopathic conditions. AS-OCT documented the fine tuft at the pupillary margin, AS-OCTA showed vascular flow, and AS-IVFA demonstrated pupillary margin vascular lesions with mild staining. Observation was advised in 20 cases (91%), and argon laser photocoagulation was required for repetitive hyphema in 2 cases (9%).
Iris microhemangiomatosis is a rare ocular condition, often manifesting with spontaneous unilateral hyphema and/or secondary glaucoma. AS-IVFA confirms the diagnosis, and intervention with laser photocoagulation is necessary in only 9% of eyes.
Jacobs, Sarah; Vangipuram, Gautam; Latimer, Caitlin; Chambers, Christopher
Forty-six-year-old woman presented with a 2-month history of a progressively enlarging mass on the palpebral conjunctiva of the left lower eyelid. The lesion reportedly began as a flat white plaque, but it had recently developed a horn, grown large enough to cause spontaneous eyelid eversion, and became painful (Fig. 1). After imaging to rule out orbital invasion, the lesion was surgically resected with negative margins and no tarsal involvement (AJCC T2b Stage IC, per 16 mm greatest diameter). The resulting conjunctival defect was reconstructed with amniotic membrane graft. Histopathology confirmed well-differentiated squamous cell carcinoma with keratin horn (Fig. 2). Testing for human papillomavirus was negative. Given the clear margins, the patient opted for clinical surveillance rather than adjuvant topical chemotherapeutic agents postoperatively.
Cugley, Dean, R., M.B.B.S.(Hons), B.Med.Sci.; Roberts-Thomson, Samuel, J., M.B.B.S., B.Biomed.Sci.; McNab, Alan, A., F.R.A.N.Z.C.O., F.R.C.Ophth.; Pick, Zelda, M.B.ChB., F.R.A.N.Z.C.O
Merkel cell carcinoma is a rare neuroendocrine tumor of subspecialized dermal mechanoreceptors, associated with immunosuppression. The usual ophthalmic presentation is an eyelid lesion. The authors present a case of biopsy-proven orbital metastatic Merkel cell carcinoma in the absence of any eyelid lesion, in an immunosuppressed patient with a history of multiple cancers. There are to the authors’ knowledge only 2 other case reports of presumed metastatic Merkel cell carcinoma to the orbit, though neither were biopsied. Despite its rarity, metastatic Merkel cell carcinoma should be included in the differential of a metastatic orbital lesion, in the patient with a known or suspected cutaneous primary. The patient has had an excellent response to combined radiotherapy and programmed death-1 inhibitor pembrolizumab, and this case highlights the potential benefit of an exciting new biologic therapy.