Large extraocular extension of a choroidal melanoma with orbital inflammation.

Purpose: To describe an atypical case of a choroidal melanoma presenting with eyelid edema, chemosis, pain and diplopia and demonstrating significant extraocular extension on ultrasonography and neuroimaging. Observations: A 69-year-old woman presented with a headache, eyelid edema, chemosis and pain in the right eye. Upon subsequent onset of diplopia, MRI of the orbits was performed and demonstrated a predominantly extraocular, intraconal mass with a small intraocular component. She was started on corticosteroids and referred to the ocular oncology service for evaluation. On fundus examination, she was noted to have a pigmented choroidal lesion consistent with melanoma, and ultrasound showed a large area of extraocular extension. Enucleation, enucleation with subsequent radiation and exenteration were discussed, and the patient requested an opinion from radiation oncology. A repeat MRI obtained by radiation oncology demonstrated a decrease in the extraocular component after corticosteroid treatment. The improvement was interpreted as suggestive of lymphoma by the radiation oncologist who recommended external beam radiation (EBRT). Fine needle aspiration biopsy was insufficient for cytopathologic diagnosis, and the patient elected to proceed with EBRT in the absence of a definitive diagnosis. Next generation sequencing revealed GNA11 and SF3B1 mutations, which supported the diagnosis of uveal melanoma and led to enucleation. Conclusion and Importance: Choroidal melanoma may present with pain and orbital inflammation secondary to tumor necrosis, which may delay diagnosis and decrease the diagnostic yield of fine-needle aspiration biopsy. Next generation sequencing may aid the diagnosis of choroidal melanoma when there is clinical uncertainty and cytopathology is unavailable.

Endoscopic enucleation and clinicopathologic correlation of a small choroidal melanoma hiding massive extrascleral extension.

Purpose: To report the unusual case of a previously stable choroidal nevus, closely followed for over 15 years, which underwent malignant transformation into small choroidal melanoma with massive extrascleral extension. Observations: A 67-year-old Caucasian female was referred to the Stanford Ocular Oncology Service with concern for malignant transformation of a previously stable choroidal nevus in her left eye. Her funduscopic examination demonstrated a dome-shaped choroidal lesion with overlying associated lipofuscin and subretinal fluid, consistent with a diagnosis of small choroidal melanoma. By B-scan ultrasonography, the lesion measured 8.0 × 6.0 mm in base and 2.1 mm in thickness. B-scan ultrasonography also disclosed an associated retroscleral mass, which appeared contiguous with the intraocular melanoma and was confirmed on subsequent orbital magnetic resonance imaging. A decision was made to proceed with enucleation. Under direct endoscopic visualization, the globe and extrascleral mass were fully isolated, mobilized, and removed in toto. At 24 months post-enucleation, the patient remains disease-free without evidence of systemic metastasis or local recurrence. Conclusions/importance: This case describes a small choroidal melanoma hiding massive extrascleral extension, underscoring the value of B-scan ultrasonography. This case also describes the unique management of choroidal melanoma with extrascleral extension using endoscopic enucleation. Performing enucleation under direct endoscopic visualization ensures complete resection and prevents inadvertent transection of the extrascleral component.

Identification of extraocular extension in uveal melanoma by ophthalmological ultrasound.

BACKGROUND AND PURPOSE: Uveal melanoma is the most common primary malignant intraocular tumour in the adult population, with a survival rate of 50% despite advances in treatment and knowledge of this disease. The presence of extraocular extension (EE) worsens the prognosis of these patients, so its proper identification can ensure its management and early intervention. Ophthalmological ultrasound is the technique of choice for the diagnosis and follow-up of these patients, both of the anterior EE using ultrasonic biomicroscopy (UBM), and the posterior EE using A and B ultrasound. The aim of this study is to describe the ultrasound characteristics of the BMU and the A and B ultrasound. MATERIAL AND METHODS: A descriptive and retrospective study is carried out on patients diagnosed with uveal melanoma (UM) and EE from 2003 to 2019. The ultrasound characteristics of the local disease and the follow-up after treatment were recorded completely and at each visit. In the case of anterior EE, photographs of the anterior segment and UBM were taken, while those involving the posterior segment were explored under A and B mode ultrasound. All enucleated eyes were sent for anatomopathological study. RESULTS: Ten patients with an average age of 72.3 years were included. The largest proportion of them were medium-sized tumours, followed by large and small ones. The most frequent morphology of the primary tumour was cupuliform. All the EE presented lower internal reflectivity compared to the primary tumour. No trans-scleral connection bridges were found between the primary tumour and the EE in the ultrasound studies. 50% of patients underwent primary enucleation at the time of diagnosis of intraocular MU due to the presence of the EE, and the remaining 50% presented the EE after initial treatment of the primary tumour with I125 brachytherapy. Sixty percent of the patients presented with posterior EE, and were therefore diagnosed with ultrasound A and B. The most frequent histopathological pattern with 87.5% of patients was the epithelioid pattern. DISCUSSION: Ultrasound scanning in patients with MU is mandatory for diagnosis and follow-up of EE. BMU and A and B ultrasound are the test of choice for anterior and posterior EE, respectively. EE have particular ultrasound characteristics such as low internal reflectivity, regularity of their contour and their location usually adjacent to the base of the primary intraocular tumor.

Identificación de extensión extraocular en el melanoma uveal mediante ecografía oftalmológica / Identification of Extraocular Extension in Uveal Melanoma by Ophthalmological Ultrasound

Antecedentes y objetivoEl melanoma uveal es el tumor primario maligno intraocular más frecuente en la población adulta, con una tasa de supervivencia del 50% a pesar de los avances en el tratamiento y conocimiento de esta enfermedad. La presencia de extensión extraocular (EE) empeora el pronóstico de estos pacientes, por lo que su correcta identificación puede asegurar su manejo e intervención temprana. La ecografía oftalmológica es la técnica de elección para el diagnóstico y seguimiento de estos pacientes, tanto de la EE anterior mediante biomicroscopía ultrasónica (UBM), como de la EE posterior mediante ecografía A y B. El objetivo de este estudio es describir las características ecográficas de la UBM y de la ecografía A y B.Material y métodosSe realiza un estudio descriptivo y retrospectivo de los pacientes diagnosticados de melanoma uveal (UM) y EE desde 2003 hasta 2019. Las características ecográficas de la enfermedad local y el seguimiento luego del tratamiento se registraron de maneracompleta y en cada visita. En caso de EE anteriores se realizaron fotografías de segmento anterior y BMU, por el contrario las que involucran el segmento posterior se exploraron bajo ecografía modo A y B. Todos los ojos enucleados se enviaron para su estudio anatomopatológico.

Background and purposeUveal melanoma is the most common primary malignant intraocular tumour in the adult population, with a survival rate of 50% despite advances in treatment and knowledge of this disease. The presence of extraocular extension (EE) worsens the prognosis of these patients, so its proper identification can ensure its management and early intervention. Ophthalmological ultrasound is the technique of choice for the diagnosis and follow-up of these patients, both of the anterior EE using ultrasonic biomicroscopy (UBM), and the posterior EE using A and B ultrasound. The aim of this study is to describe the ultrasound characteristics of the BMU and the A and B ultrasound.Material and methodsA descriptive and retrospective study is carried out on patients diagnosed with uveal melanoma (UM) and EE from 2003 to 2019. The ultrasound characteristics of the local disease and the follow-up after treatment were recorded completely and at each visit. In the case of anterior EE, photographs of the anterior segment and UBM were taken, while those involving the posterior segment were explored under A and B mode ultrasound. All enucleated eyes were sent for anatomopathological study.

Retinal Hemangioblastoma with Extraocular Extension: Report of Three Cases.

Retinal hemangioblastoma (RH) is the earliest and most common clinical manifestation in Von Hippel-Lindau (VHL) disease. RH can also present in isolation without any evidence of VHL. Clinical course of RH can be stationary or progress to exudation and chronic retinal detachment requiring surgical intervention. We report 3 cases of aggressive RH with extraocular extension in young males causing painful blind eye requiring enucleation. Two of our cases were bilateral involvement and had systemic manifestations of VHL. The third patient had unilateral involvement with no systemic evidence of VHL. This manifestation of RH is rarely reported. Two of our patients with VHL had early manifestations of RH and had undergone multiple cryotherapy sessions as well as retinal detachment surgery for exudative retinal detachment. This differential should be considered in vascular lesion arising from intraocular structures especially in diagnosed patients of VHL. The cases also highlight the aggressive behaviour and long-term progression of RH in some patients despite early treatment.

Intraocular schwannoma with extrascleral extension.

PURPOSE: To report a rare case of intraocular schwannoma with extrascleral extension in a patient with juvenile idiopathic arthritis and to review the literature for this topic. METHODS: Case report. RESULTS: A 19-year-old male with a history of juvenile idiopathic arthritis was referred for diagnosis and management of an episcleral mass, initially thought to be focal nodular scleritis. The ocular surface of the right eye revealed an elevated amelanotic episcleral nodule inferonasally, with thin strands of overlying sclera, feeding episcleral vessels, and measuring 11 mm × 11 mm in diameter and 5 mm in thickness. Ophthalmoscopic examination revealed a minimally pigmented ciliochoroidal tumor measuring 13 mm in diameter and 11.4 mm in total thickness and without associated subretinal fluid, orange pigment, or drusen. Ultrasound biomicroscopy and anterior-segment optical coherence tomography confirmed a solid mass with scleral disruption and extraocular extension. Shave biopsy revealed palisading spindle cells and interspersed eosinophilic fibrillary cytoplasmic processes, forming Verocay bodies. The specimen stained positive for S-100 and negative for Melan-A, consistent with benign schwannoma. Observation was recommended. CONCLUSION: Intraocular schwannoma is a rare, benign uveal tumor that can demonstrate extrascleral extension, mimicking inflammatory and malignant neoplastic processes. Clinical diagnosis is challenging, and tissue biopsy is required for definite diagnosis.

Ciliary Body Seeding after Pars Plana Transvitreal Fine-Needle Aspiration Biopsy of Choroidal Melanoma.

PURPOSE: To report ciliary body seeding 20 years after pars plana transvitreal fine needle aspiration biopsy (FNAB) of choroidal melanoma. CASE REPORT: 67-year-old man with choroidal melanoma in left eye was previously managed with pars plana FNAB using a 25-gauge needle followed by plaque radiotherapy. Twenty years later, choroidal melanoma was regressed but there was a small flat focus of scleral pigment 3.0mm from the limbus at the FNAB site. Ultrasound biomicroscopy showed a contiguous ciliary body mass measuring 3.1mm in thickness. Tumor seeding in the anterior chamber angle was noted inferiorly. These findings suggested melanoma recurrence along the needle tract. Treatment was performed with Iodine-125 radioactive plaque covering entire anterior segment and ciliary body recurrence. The tumor regressed to 2.2mm over one year. CONCLUSION: Pars plana transvitreal FNAB of choroidal melanoma resulted in needle tract seeding in ciliary body and episcleral region 20 years later.

Choroidal malignant melanoma with no extraocular extension presenting as orbital cellulitis.

This report describes a patient with choroidal malignant melanoma presenting as orbital cellulitis without extraocular tumor extension. It is an interventional case report with histopathologic correlation. A 68-year-old male presented with a 3-day history of painful hyperemia and swelling in the right eye. The examination showed edematous eyelids, mechanical ptosis and chemosis with conjunctival injection. B-scan ultrasonography showed a mass with medium level echogenicity that filled the vitreous cavity. Magnetic resonance imaging showed a solid choroidal mass with hemorrhagic and inflammatory changes with no obvious extraocular extension. Due to these suggestive findings of choroidal melanoma the right eye was enucleated. A spindle cell choroidal melanoma including intense pigmentation and necrosis was confirmed by histopathological examination. Although rare; choroidal melanoma may present as orbital cellulitis, particularly when the tumor is necrotic.

Orbital Extension of an Unsuspected Choroidal Melanoma Presumably through an Aqueous Tube Shunt.

AIMS: To report a patient with unrecognized small macular melanoma, who gradually developed neovascular glaucoma that was treated with an Ahmed valve. We presume that tumor cells gained access to the orbit through this aqueous drainage device. METHODS: The medical records pertaining to 5 different centers, the results of imaging studies, the clinical course of the patient and histopathological findings were retrospectively reviewed. RESULTS: A 61-year-old man presented with a blind and painful proptotic right eye. Retinal hemorrhage had been suspected 3 years earlier and followed accordingly thereafter. Yearly performed MRI studies demonstrated the steady growth of the hemorrhagic lesion/tumor. Meanwhile, he developed neovascular glaucoma first treated unsuccessfully with cyclocryotherapy then with implantation of an Ahmed valve. Right proptosis became evident within a year, and a final MRI study revealed a large retrobulbar mass. Orbital exenteration was performed and histopathological examination showed intraocular and orbital epithelioid cell melanoma. Tumor cells were also found within the reservoir of the Ahmed valve. The patient died of widespread metastases 1 year later. CONCLUSIONS: Ahmed valve implantation in an eye with unsuspected macular choroidal melanoma may ultimately be associated with extraocular extension and orbital tumor formation.

Case of Primary Intraocular Lymphoma with Extraocular Extension.

PURPOSE: To describe a case of primary intraocular lymphoma (PIOL) with an extension through the sclera that was confirmed to be part of the PIOL by histopathological examinations. CASE: An 89-year-old woman was referred to a local clinic with a 1-year history of persistent blurred vision in her left eye. After 2 years without aggressive treatments, she had a marked reduction of vision and pain in her left eye. The clinical diagnosis was panophthalmitis, and the eye was enucleated and submitted for histopathological study. RESULTS: Light microscope examination showed that atypical lymphocytic cells had infiltrated into both the intraocular and extraocular areas. The anterior chamber angle was blocked by infiltrating tumor cells, which were also detected around the optic nerve. The tumor cells destroyed Bruch's membrane and infiltrated around the perineural and perivascular areas within the sclera. Immunohistochemistry showed that the tumor cells were positive for B-lymphocyte surface antigen (CD20), B-cell antigen receptor complex-associated protein alpha chain (CD79-alpha), and had a high positive rate for anti-Ki-67 antibody. CONCLUSION: The finding in our case indicates that early diagnosis and treatment are important for eyes with PIOL because the tumor can spread and penetrate the sclera and invade extraocular tissues.

The prognostic value of extraocular extension in relation to monosomy 3 and gain of chromosome 8q in uveal melanoma.

PURPOSE: To identify the prognostic value of extraocular extension in enucleated uveal melanoma (UM) patients and to correlate extraocular extension to chromosomal aberrations, metastasis-free survival (MFS), and clinico-histopathological risk factors. METHODS: Retrospective study of patients with UM treated with enucleation between 1987 and 2011. Melanoma-related metastasis and death were recorded. Statistical analysis (log-rank test or Cox regression analysis) was performed to correlate MFS with tumor characteristics, extraocular extension, episcleral diameter of the extraocular extension, cell type, extracellular matrix patterns, inflammation, loss of chromosome 3, and gain of chromosome 8q. RESULTS: In 43 (12%) of 357 patients, extraocular extension was observed. In this subset of patients, we noted a reduced survival of 70 months (105.5 months, P = 0.010) compared with patients without extraocular extension (175.8 months). Patients with gain of chromosomal region 8q in UM with extraocular extension had an increased risk of metastatic disease (P < 0.001). In multivariate Cox proportional hazard analysis, largest basal tumor diameter (P = 0.001), extracellular matrix patterns (P = 0.009), episcleral diameter of the extraocular extension (P = 0.016), loss of chromosome 3 (P < 0.001), and gain of 8q (P < 0.001) were independent predictors for MFS. CONCLUSIONS: Larger episcleral diameter of the extraocular extension and additional gain of chromosome 8q in extraocular extension UM correlates to a worse prognosis. MFS is significantly reduced in UM with a large basal tumor diameter, extracellular matrix patterns, loss of chromosome 3, and gain of chromosome 8q.

Choroidal melanoma with massive extraocular extensions through sclera.

We report a case of choroidal melanoma with massive extraocular extensions through the sclera. A 64-year-old woman reported blurred vision in her right eye. At the first visit, visual acuity was 10/20 OD. An ophthalmological examination revealed a raised choroidal mass and exudative retinal detachment in the lower retina. A diagnosis of peripheral choroidal melanoma was confirmed by additional test results. Because the tumor size was large and no systemic metastasis was found, we recommended enucleation. However, the patient refused and requested only to be followed without treatment. Seven months later, the tumor showed extraocular extensions through the sclera into subconjunctival space and she finally agreed to undergo enucleation. Histopathologic findings showed that the tumor was a mixed cell malignant melanoma of the choroid. The eye was filled with tumor cells, and the tumor had massive extraocular extensions into the orbit through the sclera and scleral emissarium vessels. The intraocular tumor was markedly necrotic, which indicated rapid growth. Choroidal melanomas can increase quickly in size resulting in extraocular extensions through the sclera.