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1.
PLoS One ; 10(9): e0138002, 2015.
Article in English | MEDLINE | ID: mdl-26368812

ABSTRACT

Uveal melanomas (UM) originate from melanocytes in the interior wall of the eye, namely from the iris, ciliary body and the choroid with marked differences in light exposure (from dark anterior to illuminated posterior). In contrast to UV radiation, focused or converging visible light readily reaches the retina and can damage DNA which possibly contributes to UM development. In this report choroidal, ciliochoroidal and iridociliary melanomas were analyzed for GNAQ and GNA11 mutations which were subsequently correlated to the location of tumor origin. Hotspot mutations in GNAQ and GNA11 can be divided in A>T and in A>C mutation signatures. The GNAQ A626C mutation (Q209P) was almost exclusively observed in choroidal melanomas from the illuminated posterior side. On the other hand, ciliochoroidal UM from the dark anterior side with mostly A>T mutations were clearly associated with light-colored eyes. Combined these data suggest a light and a pigment dependent etiology in UM development.


Subject(s)
GTP-Binding Protein alpha Subunits/genetics , Melanoma/genetics , Mutation, Missense , Neoplasm Proteins/genetics , Ultraviolet Rays/adverse effects , Uveal Neoplasms/genetics , Amino Acid Substitution , Female , GTP-Binding Protein alpha Subunits, Gq-G11 , Humans , Male , Melanoma/pathology , Uveal Neoplasms/pathology
3.
Case Rep Ophthalmol ; 3(1): 83-6, 2012 Jan.
Article in English | MEDLINE | ID: mdl-22529807

ABSTRACT

We report the case of a 54-year-old female who was referred to us with an amelanotic mass on the posterior pole of the left eye involving the macula. Fundus fluorescein angiography revealed a hyperfluorescent choroidal mass. Indocyanine green chorioangiography revealed a hypofluorescent choroidal lesion with hyperfluorescent margins. B-scan ultrasonography showed a choroidal mass with moderate reflectivity. Choroidal biopsy was performed, which revealed the diagnosis of Fuchs' adenoma.

4.
Acta Ophthalmol ; 90(3): 291-6, 2012 May.
Article in English | MEDLINE | ID: mdl-20670343

ABSTRACT

PURPOSE: To determine the long-term effects of ruthenium-106 plaque radiation therapy for iris and iridociliary melanomas in terms of tumour regression and complications. METHODS: Between 1 November 1997 and 31 December 2007, 36 patients with an iris or iridociliary melanoma were treated with Ruthenium-106 (Ru-106) ophthalmic plaque radiation therapy. The median follow-up was 6.5 years with a range of 2-11 years. The mean tumour apex dose was 151.5 Gy. Main outcome measures were local tumour control and radiation-related ocular complications. RESULTS: The mean age of the patients at the time of treatment was 54 years (range 14-82). The tumours had a median largest basal dimension of 4.8 mm (range 3-11) and a prominence of 2.3 mm (range 0.8-5), with a median involvement of three clock hours (range 1-6). The tumours were confined to the iris in 14 patients (39%), extended into the anterior ciliary body in 12 (33%), while the anterior ciliary body tumour extended into the iris in ten patients (28%). Tumours regressed in all patients (100%) with a mean regression of 80% of the original tumour size at 7 years of follow-up. Radiation-related complications included corneal erosions on the first postoperative day in nine patients (25%), cataract in four of 11 patients free of cataract before treatment (36%) and postradiation glaucoma in one patient (3%). Visual acuity of 20/200 or worse was present in one of 20 patients (5%) at 6 years of follow-up. Local recurrences occurred in two patients (5%), 2 and 5 years after the radiation therapy respectively, and both underwent enucleation. Distant metastases occurred in one of these enucleated patients (3%) 2 years after treatment. CONCLUSION: Ru-106 plaque radiation therapy for iris and iridociliary melanoma resulted in good local tumour control and preservation of visual acuity with few and treatable side-effects.


Subject(s)
Brachytherapy , Ciliary Body/radiation effects , Iris Neoplasms/radiotherapy , Melanoma/radiotherapy , Ruthenium Radioisotopes/therapeutic use , Uveal Neoplasms/radiotherapy , Adolescent , Adult , Aged , Aged, 80 and over , Ciliary Body/pathology , Female , Follow-Up Studies , Humans , Iris Neoplasms/pathology , Male , Melanoma/pathology , Middle Aged , Radiotherapy Dosage , Ruthenium Radioisotopes/adverse effects , Treatment Outcome , Uveal Neoplasms/pathology , Visual Acuity , Young Adult
6.
Arch Ophthalmol ; 130(1): 57-64, 2012 Jan.
Article in English | MEDLINE | ID: mdl-21911649

ABSTRACT

OBJECTIVE: To collaborate with multiple centers to identify representative epidemiological, clinical, and pathologic characteristics of melanoma of the iris. This international, multicenter, Internet-assisted study in ophthalmic oncology demonstrates the collaboration among eye cancer specialists to stage and describe the clinical and pathologic characteristics of biopsy-proven melanoma of the iris. METHODS: A computer program was created to allow for Internet-assisted multicenter, privacy-protected, online data entry. Eight eye cancer centers in 6 countries performed retrospective chart reviews. Statistical analysis included patient and tumor characteristics, ocular and angle abnormalities, management, histopathology, and outcomes. RESULTS: A total of 131 patients with iris melanoma (mean age, 64 years [range, 20-100 years]) were found to have blue-gray (62.2%), green-hazel (29.1%), or brown (8.7%) irides. Iris melanoma color was brown (65.6%), amelanotic (9.9%), and multicolored (6.9%). A mean of 2.5 clock hours of iris was visibly involved with melanoma, typically centered at the 6-o'clock meridian. Presentations included iritis, glaucoma, hyphema, and sector cataract. High-frequency ultrasonography revealed a largest mean tumor diameter of 4.9 mm, a mean maximum tumor thickness of 1.9 mm, angle blunting (52%), iris root disinsertion (9%), and posterior iris pigment epithelium displacement (9%). Using the American Joint Commission on Cancer-International Union Against Cancer classification, we identified 56% of tumors as T1, 34% of tumors as T2, 2% of tumors as T3, and 1% of tumors as T4. Histopathologic grades were G1-spindle (54%), G2-mixed (28%), G3-epithelioid (5%), and undetermined (13%) cell types. Primary treatment involved radiation (26%) and surgery (64%). Kaplan-Meier analysis found a 10.7% risk of metastatic melanoma at 5 years. CONCLUSIONS: Iris melanomas were most likely to be brown and found in the inferior quadrants of patients with light irides. Typically small and unifocal, melanomas are commonly associated with angle blunting and spindle cell histopathology. This multicenter, Internet-based, international study successfully pooled data and extracted information on biopsy-proven melanoma of the iris.


Subject(s)
Iris Neoplasms/pathology , Melanoma/pathology , Adult , Aged , Aged, 80 and over , Biopsy , Combined Modality Therapy , Databases, Factual , Eye Color , Female , Humans , Internationality , Iris Neoplasms/classification , Iris Neoplasms/diagnostic imaging , Iris Neoplasms/therapy , Male , Melanoma/classification , Melanoma/diagnostic imaging , Melanoma/therapy , Middle Aged , Neoplasm Staging , Ophthalmologic Surgical Procedures , Radiotherapy , Retrospective Studies , Survival Rate , Ultrasonography , Visual Acuity/physiology , Young Adult
8.
Eur J Ophthalmol ; 21(5): 608-14, 2011.
Article in English | MEDLINE | ID: mdl-21218392

ABSTRACT

PURPOSE: To determine the role of anterior segment optical coherence tomography (AS-OCT) and other anterior segment imaging techniques (Pentacam, slit-lamp optical coherence tomography [SL-OCT]) for analysis of iris melanocytic tumors and to compare results with clinical features and ultrasound biomicroscopy (UBM). METHODS: Between 2006 and 2009, 61 patients with melanocytic iris tumors were examined using different anterior segment imaging techniques: Pentacam, SL-OCT, AS-OCT, and UBM (50 MHz). Pentacam was performed in 17 patients, SL-OCT in 12, AS-OCT in 46, and UBM in 49. RESULTS: The Pentacam images identified the tumor in 3 of 17 patients (18%), SL-OCT in 8 of 12 (67%), and AS-OCT in 44 of 46 (96%). Anterior segment optical coherence tomography results were compared with UBM in 42 patients: in 86% the results were comparable, although AS-OCT visualized a ciliary body extension of iris tumors only in 1 out of 3 cases analyzed. CONCLUSIONS: Iris melanocytic tumors were located by AS-OCT in 96% of cases and results were comparable to UBM imaging, while both SL-OCT and Pentacam are less reliable for detecting and measuring anterior segment lesions. Anterior segment optical coherence tomography gives precise anterior eye segment diameters, which are useful for the brachytherapy dosage calculation module developed at the Leiden University Medical Center. Therefore, AS-OCT is a reliable, convenient, and noncontact method for detecting and measuring pure iris tumors, but UBM is superior in detecting a ciliary body extension of these tumors.


Subject(s)
Anterior Eye Segment/pathology , Ciliary Body/pathology , Iris Neoplasms/diagnosis , Melanoma/diagnosis , Nevus, Pigmented/diagnosis , Tomography, Optical Coherence , Uveal Neoplasms/diagnosis , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Microscopy, Acoustic , Middle Aged , Young Adult
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