Iris melanocytoma: Clinical features and natural course in 47 cases

doi:10.1016/j.ajo.2004.10.008

American Journal of Ophthalmology

Volume 139, Issue 3, March 2005, Pages 468-475

Presented in part at the annual meeting of The Association for Research in Vision and Ophthalmology, Ft. Lauderdale, Florida, May 2003 (H.D.) and at the annual meeting of American Academy of Ophthalmology, New Orleans, Louisiana, October, 2004 (H.D.).

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Purpose

To describe the clinical features, natural course, management and histopathologic features of iris melanocytoma.

Design

Single-center retrospective case series.

Methods

patient population: Forty-seven consecutive patients (47 eyes) with iris melanocytoma. intervention procedure: Data regarding patient and tumor features were analyzed for their impact on the main outcome measures using univariate and multivariate regression models. Kaplan-Meier estimates were used to analyze the main outcomes as a function of time. main outcome measures: Increased intraocular pressure (IOP), tumor seeding, and tumor growth.

Results

Associated findings at initial presentation included iris stromal seeds in 20 patients (43%), and anterior chamber angle seeds in 12 (26%). Intrinsic vascularization and sector cataract were not seen in any eyes. The management at presentation included observation in 39 patients (83%), tumor removal by sector iridectomy/iridocyclectomy in 7 (15%), and enucleation for blind painful eye with secondary increased IOP in 1 (2%). The diagnosis was confirmed by histopathologic examination in 11 patients (23%). The mean follow-up was 58 months. Using Kaplan-Meier estimates, clinical evidence of growth was observed in 23% at 5 years, 48% at 10 years, and 74% at 15 years. New tumor seeds developed in 34% at 5 years, 63% at 10 years, and 75% at 15 years. Increased IOP was observed in 11% at 5 years, 11% at 10 years, and 55% at 15 years.

Conclusions

Iris melanocytoma represented only 3% of all iris nevi. Related iris stromal and anterior chamber angle seeds were common, and secondary glaucoma occurred in 11% at 5 years. Growth was observed in 23% at 5 years but no malignant transformation was found.

Section snippets

Patients and methods

The medical records of all patients diagnosed with iris nevus at the Oncology Service at Wills Eye Hospital between January 1974 and February 2003 were reviewed retrospectively, and the records of those patients who were specifically classified as having iris melanocytoma were retrieved for further analysis. Institutional Review Board approval was obtained for this retrospective study. The clinical features of iris melanocytoma have been described in the literature² and include a darkly

Results

Of approximately 1400 patients with iris nevus managed at the Oncology Service over 29 years, 47 patients (3%) were classified as having iris melanocytoma. The mean age at presentation was 37 years (median 40 years, range 3 to 67 years). Of 47 patients, 41 (87%) were Caucasian, 4 (9%) African-American, 1 (2%) Asian, and 1 (2%) was Hispanic. There were 30 females (64%) and 17 males (36%). One patient (2%) had a history of skin melanoma and one patient (2%) had ocular melanocytosis.

The initial

Discussion

Iris melanocytoma is a rare variant of iris nevus with fairly typical clinical and histopathologic features. In a clinical study by Shields and associates, of 200 patients referred for suspected iris melanoma, 158 patients (76%) were found to have lesions other than melanoma and these are termed as pseudomelanomas.¹⁷ The most common pseudomelanomas included iris cyst (38%) and iris nevus (31%). In that series, only one pseudomelanoma (0.5%) was an iris melanocytoma.¹⁷ In a pathology study of

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Iris and Ciliary Body Melanocytomas Are Defined by Solitary GNAQ Mutation Without Additional Oncogenic Alterations
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To analyze the genetic features of melanocytomas and melanomas of the anterior uvea and assess the value of molecular testing for diagnosis and prognostication.
Retrospective case-control study.
Patients with melanocytoma (n = 16) and melanoma (n = 19) of the anterior uvea.
Targeted next-generation sequencing was performed on formalin-fixed, paraffin-embedded tumor tissue from anterior uveal melanocytic tumors and correlated with clinicopathologic features.
Presence or absence of accompanying oncogenic alterations beyond GNAQ/GNA11 and their association with histologic features and local recurrence.
Hotspot missense mutations in GNAQ/GNA11 were identified in 91% (32/35) of all cases. None of the melanocytomas with or without atypia demonstrated chromosomal imbalances or additional oncogenic variants beyond GNAQ mutation, and none recurred over a median follow-up of 36 months. Additional alterations identified in a subset of melanomas include mutations in BAP1 (n = 3), EIF1AX (n = 4), SRSF2 (n = 1), PTEN (n = 1), and EP300 (n = 1); monosomy 3p (n = 6); trisomy 6p (n = 3); trisomy 8q (n = 2); and an ultraviolet mutational signature (n = 5). Local recurrences were limited to melanomas, all of which demonstrated oncogenic alterations in addition to GNAQ/GNA11 (n = 5). A single melanoma harboring GNAQ and BAP1 mutations and monosomy 3 was the only tumor that metastasized.
In this study, anterior segment uveal melanocytomas did not display oncogenic alterations beyond GNAQ/GNA11. Therefore, they are genetically similar to uveal nevi rather than uveal melanoma based on their molecular features known from the literature. Molecular testing can be performed on borderline cases to aid risk stratification and clinical management decisions.
A case of melanocytomalytic glaucoma
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Biopsy of a diffuse anterior chamber angle melanocytoma using a Kahook Dual Blade
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Value of MR-based radiomics in differentiating uveal melanoma from other intraocular masses in adults
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An example of the manual segmentation process is shown in Fig. 2. For each MR sequence, 1029 radiomics features were extracted using a tool from the Radcloud platform, which extracted radiomics features from medical image data with a large panel of engineered hard-coded feature algorithms (http://mics.radcloud.cn/#/project) [15,16]. To reduce the effect of variation in slice thickness, all images were resampled to a voxel size of 1 × 1×1 mm3 using B-Spline interpolation.
To assess the performance of machine learning (ML)-based magnetic resonance imaging (MRI) radiomics analysis for discriminating between uveal melanoma (UM) and other intraocular masses.
This retrospective study analyzed 245 patients with intraocular masses (165 UMs and 80 other intraocular masses). Radiomics features were extracted from T1WI, T2WI, and contrast enhanced T1-weighted images (CET1WI), respectively. The intraclass correlation coefficient (ICC) was calculated to quantify the reproducibility of features. The training and test sets consisted of 195 and 50 cases. Least absolute shrinkage and selection operator (LASSO) regression method was employed for feature selection. The ML classifiers were logistic regression (LR), multilayer perceptron (MLP), and support vector machine (SVM). The performance of classifiers was evaluated by ROC analysis, and was compared to the performance of visual assessment by DeLong test.
The optimal radiomics feature set was 10, 15, 15, and 24 for T1W, T2W, CET1W, and joint T2W and CET1W images, respectively. The accuracy of T1WI, T2WI, CET1WI, and the joint T2WI and CET1WI models ranged from 72.0 %–78.0 %, from 79.6 %–81.6 %, from 74.0 %–82.0 %, and from 76.0 %–86.0 % in the test set. In the test set, the AUC for T1WI, T2WI, CET1WI, joint T2WI, and CET1WI models ranged from 0.775 to 0.829, 0.816 to 0.826, 0.836 to 0.861, and 0.870 to 0.877, respectively. In the combined model, the performance of ML classifiers was better than the performance of visual assessment in the training set and in all patients (p＜0.05).
Radiomics analysis represents a promising tool in separating UM from other intraocular masses.
Ocular ultrasound findings in optic disk melanocytoma
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Citation Excerpt :
Melanocytoma is a benign and highly pigmented tumor that can emerge almost anywhere in the eye,1 such as the orbit,2–5 iris,6–10 ciliary body,11–18 choroid,19–21 sclera,22,23 conjunctiva,24 and the optic disk.25–32
To describe the echographic characteristics of optic disk melanocytoma using a high resolution 10–20 MHz ophthalmic ultrasound.
We conducted a 10-year retrospective review finding 9 cases with optic disk melanocytoma. The echographic studies were performed by the same experienced ophthalmologist. The form and density of the tumors were evaluated with B-scan ultrasound. Internal reflectivity and vascularity of the tumors were assessed with a standardized A-scan. Base (vertical and horizontal) and height of the tumor were obtained by using both ultrasounds AB modes.
The mean age at diagnosis was 43.88 years. There was no evidence of abnormal tumor vascularization in any of the cases. Mean (SD) vertical measurement of the base was 2.53 mm (±1.47). Mean (SD) horizontal measurement of the base was 2.49 mm (±1.03). Mean height (SD) was 1.52 mm (±0.88). Of the assessable cases, 78% had high internal reflectivity, the remaining 22% had medium-high internal reflectivity. All tumors’ internal structure was characteristically homogeneous. Mean follow-up was 33.6 months.
Melanocytomas are small, benign tumors that are highly assessable by ocular ultrasound when their elevation surpasses 0.5 mm. In our study, the internal reflectivity ranged from high to very high, unlike other malignancies such as choroidal melanoma which tend to present with low internal reflectivity. The avascularity of the tumor is a common finding. Ultrasound is a remarkable tool that helps detect benign characteristics in a pigmented optic disk tumor and helps establish a more reliable diagnosis.
Describir las características ecográficas del melanocitoma de nervio óptico utilizando un ultrasonido oftálmico de alta resolución (10-20 Mhz).
Serie de casos retrospectiva de 10 años. Se presentan 9 casos de melanocitoma de nervio óptico. El análisis ecográfico fue realizado por el mismo oftalmólogo experimentado. La morfología y la densidad de los tumores fueron evaluadas con ultrasonido modo B. La reflectividad interna y la vascularidad de los tumores se evaluaron con ultrasonido modo A. La base (en sus dimensiones vertical y horizontal) y la altura de los tumores se midieron utilizando ambos ultrasonidos modo AB.
El promedio de edad al diagnóstico fue de 43.88 años. No hubo evidencia de vascularidad anormal en ningún caso. El promedio (DE) de la medición vertical de la base fue 2.53 mm (±1.47), la medición horizontal de la base fue 2.49 mm (±1.03), y la media de la altura tumoral fue 1.52 mm (±0.88). Del total de los casos, el 78% tuvo reflectividad interna alta y el 22% restante tuvo reflectividad interna media-alta. El 100% de los tumores tuvieron una estructura interna de características homogéneas. El promedio de seguimiento fue de 33.6 meses.
Los melanocitomas son tumores pequeños, benignos, que fácilmente pueden ser estudiados por ultrasonido ocular cuando su elevación sobrepasa los 0.5 mm. En nuestro estudio la reflectividad interna varió de alta a media-alta, a diferencia de otras afecciones malignas como el melanocitoma coroideo, que se presentan con una reflectividad interna baja. La avascularidad del melanocitoma es un hallazgo común. El ultrasonido es una gran herramienta que nos ayuda a detectar características benignas en un tumor pigmentado del nervio óptico, ayudándonos a establecer un diagnóstico más fiable.
Melanosis oculi
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: Support provided by the International Award of Merit in Retina Research, Houston, Texas (J.A.S.), Rosenthal Award of the Macula Society (C.L.S.), Macula Foundation, New York, New York (C.L.S.), the Noel T. and Sara L. Simmonds Endowment for Ophthalmic Pathology, Wills Eye Hospital (R.C.E., Jr.) and the Eye Tumor Research Foundation, Philadelphia, Pennsylvania (C.L.S., J.A.S.).

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Original articlesIris melanocytoma: Clinical features and natural course in 47 cases

Purpose

Design

Methods

Results

Conclusions

Section snippets

Patients and methods

Results

Discussion

Ophthalmology

Am J Ophthalmol

Am J Ophthalmol

Ophthalmology

Am J Ophthalmol

Surv Ophthalmol

Am J Ophthalmol

Am J Ophthalmol

Am J Ophthalmol

Ophthalmology

Ophthalmology

Original articles
Iris melanocytoma: Clinical features and natural course in 47 cases