Ocular PEComas are frequently melanotic and TFE3-translocated: report of two cases including the first description of PRCC-TFE3 fusion in PEComa.

Ocular perivascular epithelioid cell tumor (PEComa) is exceedingly rare. We reported two examples involving the choroid and subconjunctival tissue, respectively, in patients aged 17 and 20 years. Both tumors comprised packets and sheets of large polygonal cells with moderately pleomorphic nuclei and prominent nucleoli, traversed by delicate fibrovascular septa. Melanin pigmentation was present in one case. The tumors showed HMB45 and TFE3 immunoreactivity. TFE3 gene translocation was confirmed by FISH break-apart probes. RNA seq revealed PRCC-TFE3 and NONO-TFE3 fusions, with the former representing the first description of PRCC-TFE3 in PEComa. Critical reappraisal of the reported cases showed that ocular PEComa frequently affected young patents with melanin pigmentation, frequent TFE3 protein expression, and/or TFE3 gene translocation. No recurrence or metastasis was reported after complete excision despite the presence of cytologic atypia.

Cortical blindness and choroidal metastases secondary to metastatic breast carcinoma in a male patient.

Male breast carcinoma is a rare entity that often goes undiagnosed until advanced stages. The authors describe the case of a patient with profound vision loss who was found to have bilateral choroidal metastases as well as advanced cerebral metastatic disease. Further medical work-up revealed widespread infiltrative ductal breast carcinoma. Given the presence of large occipital lobe lesions, the etiology of the patient's vision loss was thought to be cortical blindness. Prompt diagnosis and neurologic evaluation with this presentation is crucial because it can be associated with significant morbidity and mortality.

Rosai-Dorfman disease presenting as choroidal melanoma: a case report and review of the literature.

BACKGROUND: Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare non-malignant proliferation of histiocytes of unknown aetiology. It was first recognised as a distinct clinicopathologic entity in 1969, and is classified as an idiopathic non-Langerhans cell histiocytosis. The disease process is usually self-limiting and often involves lymph nodes, but extranodal involvement is well-described and any anatomic site can be involved. METHODS: We describe a unique case of a 40-year-old male who presented with a fundus mass diagnosed clinically as choroidal melanoma. The tumour showed rapid growth. The patient developed a total retinal detachment and underwent enucleation. The globe contained a choroidal tumour with histologic and immunophenotypic features characteristic of RDD. The literature of ocular Rosai-Dorfman disease was reviewed. RESULTS: This is the first case in the English literature of intraocular choroidal RDD, mimicking choroidal melanoma. CONCLUSIONS: Rosai-Dorfman disease can present as a mass-producing lesion in the choroid and may mimic other choroidal tumours. The case emphasises the need to consider diagnostic biopsy prior to definitive treatment of choroidal tumours.

Transscleral visible/near-infrared spectroscopy for quantitative assessment of haemoglobin in experimental choroidal tumours.

PURPOSE: To study the feasibility of using transscleral visible/near-infrared spectroscopy (Vis/NIRS) to estimate the content of haemoglobin in choroidal tumour phantoms of ex vivo porcine eyes. METHODS: Thirty enucleated porcine eyes were prepared with a tumour phantom made by injecting a suspension of gelatine, titanium dioxide and human blood into the suprachoroidal space. The blood concentrations used were 2.5%, 25% and 50%, with 10 eyes in each group. Alternating Vis/NIRS measurements were taken over the phantom inclusion and on the opposite (normal) side of each eye. For statistical analysis, a genetic algorithm was utilized to suppress insignificant wavelengths in the spectra. The processed spectra were then used to build a regression model based on partial least squares regression and evaluated by twofold cross-validation. RESULTS: Ultrasonography revealed that all phantoms were localized within the suprachoroidal space with no penetration through the retina. The largest mean diameters of the phantoms with 2.5%, 25% and 50% blood were 15.5, 15.2 and 15.7 mm, respectively (p > 0.05). The largest mean thicknesses were 4.5, 4.5 and 4.8 mm, respectively (p > 0.05). Statistical analysis of the spectral data showed that it was possible to correctly discriminate between the normal side and the tumour phantom side of the eyes in 99.88% of cases. The phantoms could be correctly classified according to their blood concentrations in 99.42% of cases. CONCLUSIONS: This study demonstrates that transscleral Vis/NIRS is a feasible and accurate method for the detection of choroidal tumours and to assess the haemoglobin content in such lesions.

Comparison of eumelanin and pheomelanin content between cultured uveal melanoma cells and normal uveal melanocytes.

Levels of eumelanin (EM) and pheomelanin (PM) of uveal melanoma cells have not been measured and compared with those of normal uveal melanocytes. EM and PM amounts in four immortal human uveal melanoma cell lines were measured by chemical degradation and microanalytical high-performance liquid chromatography and compared with those from 39 normal human uveal melanocyte cell lines reported earlier by us. Uveal melanoma cells had a very low EM/PM ratio (0.41), which was very significantly lower than that from normal melanocytes isolated both from eyes with light-colored irides (1.31) or dark-colored irides (7.32). The low EM/PM ratio was caused by a low level of EM in melanoma cells, which was only 1/8 and 1/31 of that in melanocytes from eyes with light-colored irides and dark-colored irides, respectively. The PM level in uveal melanoma cells was not statistically different from normal melanocytes from eyes with light-colored irides or dark-colored irides. The total quantity of EM and PM in uveal melanoma cells was significantly less than that in normal melanocytes. This difference was because of the low level of EM in uveal melanoma cells. The results of these studies indicate that the changes of melanin content in uveal melanoma cells mainly relate to the decrease of EM content. Low melanin and EM content may make melanoma cells more susceptible to mutagenic effects of ultraviolet radiation and oxidative stress, which may enhance the proliferation of melanoma cells and accelerate progression of melanoma.

Review of fundus autofluorescence in choroidal melanocytic lesions.

Fundus autofluorescence (FAF) imaging takes advantage of the fluorescent properties of some molecules, especially lipofuscin. FAF derives mainly from retinal pigment epithelium (RPE) and Bruch's membrane. Using confocal scanning laser ophthalmoscope (cSLO) we have previously shown that FAF associated with pigmented choroidal lesions can be attributed to mainly lipofuscin (orange pigment) within the RPE. Other causes of FAF include hyperpigmentation, drusen, or fibrous metaplasia probably because they also cause lipofuscin accumulation in the overlying RPE. There is a total or partial correlation between FAF and the foci of lipofuscin and hyperpigmentation in about 90% of the cases. The FAF patterns of choroidal melanocytic lesions were classified as patchy or diffuse. The patchy pattern was defined as the presence of distinct areas of increased FAF between areas of normal autofluorescence. The diffuse pattern was characterized by the presence of increased FAF with indistinct borders over a larger part (>50%) of the tumour in the absence of such intervening areas. Choroidal melanomas presented with either a diffuse or patchy pattern, whereas choroidal naevi demonstrated only the patchy pattern. Diffuse FAF pattern was more often associated with larger choroidal melanomas as well as with early venous and late hyperfluorescence on fluorescein angiography. Limitations of these observations depend on the field of depth of cSLO; thus, FAF from other planes could not be detected. Increased retinal thickness, intraretinal oedema, or presence of subretinal fluid may also affect the FAF signal.

Choroidal metastasis of follicular thyroid adenocarcinoma diagnosed by 25-gauge transretinal biopsy.

We report a case of a patient with previously treated follicular thyroid carcinoma who presented with a symptomatic amelanotic choroidal mass with low internal reflectivity and a metastatic lytic skull lesion. A 25-gauge vitrector was used to perform transretinal choroidal biopsy (TRCB), confirming the diagnosis of metastatic follicular thyroid carcinoma.

Bilateral choroidal metastases presenting as acute glaucoma crisis.

We report a case of bilateral choroidal metastasis presenting with acute unilateral glaucoma. Primary tumor was found in the lung and choroidal masses in both eyes. Anterior segment neovascularization causing intraocular pressure elevation was the only presenting sign of metastatic choroidal tumor. A painful and hypertensive eye could be symptoms of choroidal metastasis even if no systemic malignancy is encountered.

Autofluorescence of orange pigment overlying small choroidal melanoma.

PURPOSE: To describe the autofluorescence features of orange pigment (intracellular lipofuscin) overlying small presumed choroidal melanomas. METHODS: The diagnostic testing results (fluorescein angiography, optical coherence tomography, and fundus autofluorescence imaging) for two patients with pigmented choroidal melanoma and two patients with nonpigmented choroidal melanoma were reviewed. RESULTS: Clinically, the intracellular lipofuscin pigment appeared brown overlying the nonpigmented melanoma (two cases) and orange overlying the pigmented melanoma (two cases). Fluorescein angiography demonstrated that the lipofuscin pigment displayed fluorescein blockage in all four cases. Optical coherence tomography revealed serous retinal detachment in all four cases. Fundus autofluorescence imaging showed discrete, bright hyperautofluorescence of the orange pigment separated by hypoautofluorescent voids. The melanoma was isoautofluorescent. CONCLUSIONS: Intracellular lipofuscin overlying small choroidal melanomas shows discrete and bright hyperautofluorescence. The brightness correlates directly with the clinically visible orange pigment.

Red lesions of the iris, choroid, and skin secondary to metastatic carcinoma of the thyroid: a review.

An 83-year-old man was seen with a history of bilateral progressive loss of vision of 1 month's duration. On examination, there was a reddish, nodular lesion adjacent to the right side of the nose. Slit-lamp examination revealed a reddish iris mass in the left eye. Ophthalmoscopic examination revealed two orange choroidal lesions in the right eye and a large subretinal hemorrhage in the posterior pole with a central reddish vascular lesion in the left eye. An excisional biopsy of the skin lesion was performed. A diagnosis of metastatic follicular thyroid carcinoma was made according to the histopathologic findings and immunohistochemistry. The patient had no known history of thyroid malignancy and a metastatic survey revealed widespread metastasis. The patient had a total thyroidectomy followed by two series of radioactive iodine ablation. The iris lesion completely resolved and the choroidal lesions in the right eye showed partial regression during the follow-up period. Ocular and skin metastasis secondary to thyroid carcinoma is uncommon. In a review of English literature we found reports of 12 clinically well-documented cases of choroidal metastasis and two cases of iris metastasis. Our case and review of the previous cases reveal that reddish/orange color is a commonly observed feature of the uveal metastasis of thyroid carcinoma. Although ocular and skin metastases from thyroid carcinoma are rare, this possibility should be considered in the differential diagnosis of reddish-colored iris and choroidal masses as well as reddish nodular lesions of the scalp, face, and neck.

[Macroscopic and histological data in the prognosis of malignant choroidal melanoma]. / Aspects macroscopiques et histopronostiques du mélanome malin choroïdien.

The macroscopic study of choroidal melanoma gives information on tumor extension and tumor size, which help in determining the prognosis and in making the therapeutic choice. Numerous microscopic changes observed in melanomas are also important in the prognosis. However, the number of available histologic specimens has dramatically decreased since the generalized use of conservative radiation treatment. Except in cases of enucleation or choroidectomy, the histologic criteria to establish the prognosis are not available in many cases and cannot be used for wide-range statistical studies.