The Pediatric and Young Adult Choroidal and Ciliary Body Melanoma Genetic Study, A Survey by the European Ophthalmic Oncology Group.

Purpose: To explore the genetic background of choroidal and ciliary body melanoma among children and young adults, with special focus on BAP1 germline variants in this age group. Methods: Patients under the age of 25 and with confirmed choroidal or ciliary body melanoma were included in this retrospective, multicenter observational study. Nuclear BAP1 immunopositivity was used to evaluate the presence of functional BAP1 in the tumor. Next-generation sequencing using Ion Torrent platform was used to determine pathogenic variants of BAP1, EIF1AX, SF3B1, GNAQ and GNA11 and chromosome 3 status in the tumor or in DNA extracted from blood or saliva. Survival was analyzed using Kaplan-Meier estimates. Results: The mean age at diagnosis was 17 years (range 5.0-24.8). A germline BAP1 pathogenic variant was identified in an 18-year-old patient, and a somatic variant, based mainly on immunohistochemistry, in 13 (42%) of 31 available specimens. One tumor had a somatic SF3B1 pathogenic variant. Disomy 3 and the absence of a BAP1 pathogenic variant in the tumor predicted the longest metastasis-free survival. Males showed longer metastasis-free survival than females (P = 0.018). Conclusions: We did not find a stronger-than-average BAP1 germline predisposition for choroidal and ciliary body melanoma among children and young adults compared to adults. Males had a more favorable survival and disomy 3, and the absence of a BAP1 mutation in the tumor tissue predicted the most favorable metastasis-free survival. A BAP1 germline pathogenic variant was identified in one patient (1%), and a somatic variant based mainly on immunohistochemistry in 13 (42%).

Focal reactive nodular gliosis: an extremely rare retinal astrocytic tumor.

Focal reactive nodular gliosis (FRNG) is an extremely rare benign retinal reactive astrocytic tumor that results from the proliferation of well-differentiated glial cells secondary to a variety of retinal conditions. We describe a case of this tumor in a 64-year-old male in association with a chorioretinal scar he has had since childhood. The symptom was sudden painful vision loss. In the clinical examination, iris rubeosis, posterior synechiae, cataract, vitreous haze and a suspected fundus mass were showed. B-scan ultrasonography demonstrated a retinal mass consistent with choroidal melanoma. The magnetic resonance imaging (MRI) showed a well-circumscribed mass with T1 hyperintensity and T2 hypointensity. Enucleation was performed and histopathologic and immunohistochemical studies confirmed the diagnosis of FRNG.

A study comparing baseline and best-corrected visual acuity after iodine-125 episcleral brachytherapy in uveal melanoma.

Purpose: The aim of this study was to analyze the course of visual acuity (VA) in visual outcomes of patients treated with iodine-125 (125I) brachytherapy in our center, based on original VA before treatment. Material and methods: Visual acuity was prospectively assessed using a case series of 305 patients treated with 125I between 1996 and 2022. To examine how VA behaves over time, we divided patient sample into 4 groups: (1) Patients with visual acuity of less than V ≤ 0.1 at baseline; (2) Patients with low to moderate VA, ranging 0.1 < V < 0.4; (3) Patients with moderate-high VA, ranging 0.4 < V < 0.8; (4) Patients with very high VA of V > 0.8. Each of the four groups was studied separately over a 60-month period to determine the percentage of patients with VA improvement, worsening, or with the same VA status. Finally, visual outcomes over time were estimated with 95% confidence interval (CI) using Kaplan-Meier analysis, and VA maintenance rates were reported at 1, 3, 5, 10, 15, and 20 years of follow-up. Results: The median follow-up time was 78.2 months (range, 6-254 months). The cumulative probabilities of survival analysis at 1, 3, 5, and 10 years were 16%, 3%, 2%, and none for the first sub-group; 46%, 20%, 17%, and 14% for the second; 65%, 53%, 29%, and 15% for the third; and 86%, 56%, 48%, and 41% for the fourth sub-group. The median survival in years was 0.30, 0.80, 3.10, and 4.40 for each sub-cohort, respectively. Conclusions: The decrease and maintenance of VA depends on the initial VA of patients. Most patients experience a marked worsening of their VA, regardless of their VA status before treatment with episcleral brachytherapy. Patients with a higher baseline VA retain VA best over time.

Brachytherapy in the prevention of recurrence of conjunctival melanoma : Results of a case report in a University Hospital in Valladolid, Spain.

AIM: Describe the results of brachytherapy in the prevention of recurrences in conjunctival melanoma (CM) and describe a dosimetric protocol. METHODS: Retrospective and descriptive case report. Eleven consecutive patients with a confirmed histopathological diagnosis of CM treated with brachytherapy between 1992 and 2023 were reviewed. Demographic, clinical, and dosimetric characteristics as well as recurrences were recorded. Quantitative variables were represented by the mean, median, and standard deviation, and qualitative variables by frequency of distribution. RESULTS: Of a total of 27 patients diagnosed with CM, 11 who were treated with brachytherapy were included in the study (7 female; mean age at time of treatment: 59.4 years). Mean follow-up was 58.82 months (range 11-141 months). Of a total of 11 patients, 8 were treated with ruthenium-106 and 3 with iodine-125. Brachytherapy was performed in 6 patients as adjuvant therapy after biopsy-proven CM on histopathology and in the other 5 patients after recurrence. The mean dose was 85 Gy in all cases. Recurrences outside of the previously irradiated area were observed in 3 patients, metastases were diagnosed in 2 patients, and one case of an ocular adverse event was reported. CONCLUSION: Brachytherapy is an adjuvant treatment option in invasive conjunctival melanoma. In our case report, only one patient had an adverse effect. However, this topic requires further research. Furthermore, each case is unique and should be evaluated by experts in a multidisciplinary approach involving ophthalmologists, radiation oncologists, and physicists.

BRAF and NRAS prognostic values in conjunctival melanoma: analysis and literature review.

PURPOSE: Conjunctival melanoma is a rare and aggressive tumor with a propensity for regional and distant metastases. This study aimed to analyze BRAF/NRAS markers in conjunctival melanoma and their relationship with tumor recurrences and patient prognosis. METHODS: This retrospective, observational, single-center study included consecutive patients with an anatomopathological diagnosis of conjunctival melanoma, registered between January 1992 and December 2019. BRAF/NRAS mutations were analyzed using cobas®4800 kit (Roche®) in samples obtained by excisional or map biopsy. Additionally, the presence of other associated precancerous or tumor lesions was assessed. RESULTS: A total of 12 patients with positive histological samples for conjunctival melanoma were included (7 women, 5 men), with a mean age at diagnosis of 60 years and a mean evolution time of 6.38 ± 3.4 years. BRAF V600E mutation was observed in three biopsies (25%), similar to NRAS Q61X (25%). Recurrences occurred in all patients with positive BRAF or NRAS mutation, and five of these patients developed systemic dissemination (83.33%). Moreover, four of six patients with mutated BRAF or NRAS (66.66%) had histopathological findings of tumor or precancerous lesions. CONCLUSIONS: BRAF and NRAS mutations may be risk factors for recurrence and shorter survival in conjunctival melanoma, which would make these patients candidates for targeted therapies and comprehensive and individualized follow-up. All these data warrant standardized prospective studies.

BRAF and NRAS prognostic values in conjunctival melanoma: analysis and literature review / Análise do valor prognóstico dos marcadores BRAF e NRAS no melanoma da conjuntiva e revisão da literatura

ABSTRACT Purpose: Conjunctival melanoma is a rare and aggressive tumor with a propensity for regional and distant metastases. This study aimed to analyze BRAF/NRAS markers in conjunctival melanoma and their relationship with tumor recurrences and patient prognosis. Methods: This retrospective, observational, single-center study included consecutive patients with an anatomopathological diagnosis of conjunctival melanoma, registered between January 1992 and December 2019. BRAF/NRAS mutations were analyzed using cobas®4800 kit (Roche®) in samples obtained by excisional or map biopsy. Additionally, the presence of other associated precancerous or tumor lesions was assessed. Results: A total of 12 patients with positive histological samples for conjunctival melanoma were included (7 women, 5 men), with a mean age at diagnosis of 60 years and a mean evolution time of 6.38 ± 3.4 years. BRAF V600E mutation was observed in three biopsies (25%), similar to NRAS Q61X (25%). Recurrences occurred in all patients with positive BRAF or NRAS mutation, and five of these patients developed systemic dissemination (83.33%). Moreover, four of six patients with mutated BRAF or NRAS (66.66%) had histopathological findings of tumor or precancerous lesions. Conclusions: BRAF and NRAS mutations may be risk factors for recurrence and shorter survival in conjunctival melanoma, which would make these patients candidates for targeted therapies and comprehensive and individualized follow-up. All these data warrant standardized prospective studies.

RESUMO Objetivo: O melanoma da conjuntiva é um tumor raro e agressivo, com propensão à disseminação metastática regional e distante. Este estudo tem como objetivo analisar os marcadores BRAF e NRAS no melanoma da conjuntiva e sua relação com recidivas tumorais e com o prognóstico do paciente. Métodos: Este foi um estudo retrospectivo, observacional e unicêntrico de pacientes consecutivos com diagnóstico anatomopatológico de melanoma da conjuntiva feito entre janeiro de 1992 e dezembro de 2019. As mutações BRAF e NRAS foram analisadas com o kit cobas® 4800 (Roche®) em amostras obtidas através de biópsia excisional ou por mapa. Além disso, foi avaliada a presença de lesões pré-cancerosas ou tumorais associadas. Resultados: Foram incluídos 12 pacientes com amostras histológicas positivas para melanoma da conjuntiva (7 mulheres e 5 homens), com idade média ao diagnóstico de 60 anos e tempo médio de evolução de 6,38 ± 3,4 anos. A mutação BRAF V600E foi encontrada em 3 biópsias (25%), bem como a NRAS Q61X (25%). Ocorreram recidivas em todos os pacientes positivos para mutações de BRAF ou NRAS e 5 desses pacientes desenvolveram disseminação sistêmica (83,33%). Além disso, 4 dos 6 pacientes com BRAF ou NRAS mutante (66,66%) apresentaram achados histopatológicos de lesões tumorais ou pré-cancerosas. Conclusões: As mutações BRAF e NRAS podem ser fatores de risco para recorrência e menor sobrevida no melanoma da conjuntiva, o que tornaria esses pacientes candidatos a terapias direcionadas e a um acompanhamento mais abrangente e individualizado. Todos esses dados justificam mais estudos prospectivos padronizados.

Regression of posterior uveal melanoma following iodine-125 plaque radiotherapy based on pre-treatment tumor apical height.

PURPOSE: The aim of this study was to analyze regression rates and local control of uveal melanoma patients treated with iodine-125 ( 125I) brachytherapy based on initial tumor apical height. MATERIAL AND METHODS: Patients treated in a single institution from January 1st, 1996 to 2019 with 125I plaques (ROPES and COMS) for uveal melanoma were included in this study. Patients treated with brachytherapy for iris and those treated with transpupillary thermotherapy prior to brachytherapy were excluded. The sample was classified into 4 categories depending on initial apical tumor height (h0), i.e., h0 ≤ 2.5 (small), 2.5 < h0 ≤ 6.25 (small-medium), 6.25 < h0 ≤ 10 (medium-large), and h0 > 10 mm (large). Percentage of original tumor apical height (Δh) was collected during follow-ups. Patterns of regression were evaluated using linear least squares adjustments. Multivariable Cox regression were performed. RESULTS: In total, 305 patients met the inclusion criteria, and 27, 166, 100, and 13 were considered for small, small-medium, medium-large, and large categories, respectively. Median follow-up was 82.4, 56.8, 76.1, 89.1, and 100.1 months for the entire cohort and each sub-group, respectively. Pattern of decrease when h0 ≤ 2.5 mm was not detectable. For the rest sub-groups, changes in height could be fitted using functional form: Δh (T) = ae-bT + c, R 2 ≥ 0.97. Multivariate Cox analysis factors predictive of local control failure revealed a hazard ratio (HR) of 6.1 (95% CI: 0.7-58.2%, p = 0.05) for patients who remained similar sized after treatment for small-medium tumors. For the rest sub-groups, Cox analysis did not indicate statistical significance in any single variable. CONCLUSIONS: Height changes can be modeled by a negative exponential function for the first 7 years after treatment depending on the initial height, except for those less than 2.5 mm. Non-responding small-medium tumors multiply by 6 the probability of failure in local control.

Spectrum of conjunctival tumours in a Spanish series: A review of 462 cases.

INTRODUCTION: To report the spectrum and frequency of conjunctiva tumours in an ocular oncology unit analysing the clinical profile of benign, precancerous and malignant conjunctival lesions. METHODS: A retrospective case series of 462 consecutive patients diagnosed at the Ocular Oncology Unit of the University Hospital of Valladolid from 1992 to 2017. RESULTS: Among 462 consecutive patients, the tumour was classified as melanocytic in 252 (54.5%) and non-melanocytic in 210 (45.5). Two hundred forty-eight males (mean age 51.63 (SD = 23.20)) and 214 females (mean age 48.27 (SD = 21.77)) were included. Mean patient age at diagnosis was 50.07 years (range = 1-92 years). The majority of tumours were benign (n = 307 (66.5%)) followed by precancerous (n = 103 (22.3%)) and finally by malignant ones (n = 52 (11.3%)). Benign lesions were predominantly found in younger individuals rather than premalignant (p < 0.05) and malignant ones (p < 0.05). Most of the melanocytic lesions were benign (88.5%), most epithelial ones were precancerous (61.4%) and most lymphoid lesions were malignant (56.3%). Tumours involving one or four quadrants of the ocular surface usually were benign, unlike tumours involving three quadrants that were malignant (16 (48.5%) p < 0.05). The majority of benign lesions were detected on females (n = 163 (53.1%)) by routine examination (n = 178 (86.4%)). However, main complaint in malignant tumours was the growth of the lesion (n = 39 (76.5%)). CONCLUSION: Most of the conjunctival tumours were melanocytic, mostly benign, closely followed by those of epithelial origin, with a predominance of precancerous lesions. Melanocytic, epithelial and lymphoid tumours accounted for over 90% of cases. A trend was identified with benign lesions being found in younger female patients on routine examination.

Black and white box: Take good gross pathology photographs.

Macroscopic study of surgical samples sent to the histopathology lab provides the first diagnostic approach. Obtaining quality photographs of these pieces facilitates proper case documentation for publication, sharing, teaching and research.This device has been originally designed for enucleated eyes but it could be used for a wide diversity of human or animal samples including thyroids, pituitary glands, prostates… It can be coupled to any smartphone camera.The Black and White Box is an affordable and easy option for taking gross pathology photographs of high quality. In this work we provide full instructions on how to make it.

Episcleral brachytherapy as an effective alternative in vasoproliferative tumors.

The aim of this study is to assess the results of episcleral brachytherapy as treatment of retinal vasoproliferative tumors (RVTs) in a referral Intraocular Tumors Unit (ITU). A retrospective review of all patients diagnosed with vasoproliferative tumors of the retina and treated with episcleral brachytherapy in the ITU, University Hospital of Valladolid between 2009 and 2015 was done. Five patients accomplished the inclusion criteria. All of them presented associated exudation and secondary retinal detachments (RD). Four patients had received prior treatments. Decreased tumor size and exudation regression was found in all cases after treatment. Visual acuity remained stable or increased in all patients. No recurrences have been found after twelve-months follow up. The results of the present study suggest that episcleral brachytherapy is an efficient and safe option in the management of vasoproliferative tumors, especially when large tumor or extensive subretinal fluid is present. In these cases episcleral brachytherapy could be considered as a first line treatment.

Radiobiological doses, tumor, and treatment features influence on local control, enucleation rates, and survival after epiescleral brachytherapy. A 20-year retrospective analysis from a single-institution: part I.

PURPOSE: To assess influence of the radiobiological doses, tumor, and treatment features on local control, enucleation rates, overall and disease-specific survival rates after brachytherapy for posterior uveal melanoma. MATERIAL AND METHODS: Local control, enucleation, overall and disease-specific survival rates were evaluated on the base of 243 patients from 1996 through 2016, using plaques loaded with iodine sources. Clinical and radiotherapy data were extracted from a dedicated prospective database. Biologically effective dose (BED) was included in survival analysis using Kaplan-Meier and Cox regressions. The 3-, 5-, 10-, and 15-year relative survival rates were estimated, and univariate/multivariate regression models were constructed for predictive factors of each item. Hazard ratio (HR) and confidence interval at 95% (CI) were determined. RESULTS: The median follow-up was 73.9 months (range, 3-202 months). Cumulative probabilities of survival by Kaplan-Meier analysis at 3, 5, 10 and 15 years were respectively: 96%, 94%, 93%, and 87%, for local control; 93%, 88%, 81%, and 73% for globe preservation; 98%, 93%, 84%, and 73% for overall survival, and 98%, 96%, 92%, and 87% for disease-specific survival. By multivariate analysis, we concluded variables as significant: for local control failure - the longest basal diameter and the juxtapapillary location; for globe preservation failure - the longest basal dimension, the mushroom shape, the location in ciliary body, and the dose to the foveola; for disease-specific survival - the longest basal dimension. Some radiobiological doses were significant in univariate models but not in multivariate ones for the items studied. CONCLUSIONS: The results show as predictive factors of local control, enucleation, and disease-specific survival rates those related with the features of the tumor, specifically the longest basal dimension. There is no clear relation between radiobiological doses or treatment parameters in patients after brachytherapy.

Radiobiological doses, tumor, and treatment features influence on outcomes after epiescleral brachytherapy. A 20-year retrospective analysis from a single-institution: part II.

PURPOSE: To assess the influence of the radiobiological doses, tumor, and treatment features on retinopathy, cataracts, retinal detachment, optic neuropathy, vitreous hemorrhage, and neovascular glaucoma at the authors' institution after brachytherapy for posterior uveal melanoma. MATERIAL AND METHODS: Medical records of 243 eyes with uveal melanoma, treated by iodine brachytherapy between 1996 and 2016 at a single center were analyzed. Clinical and radiotherapy data were extracted from a dedicated database. Biologically effective dose (BED) was included in survival analysis performed using Kaplan-Meier and Cox regressions. Relative survival rates were estimated, and univariate/multivariate regression models were constructed for predictive factors of each item. Hazard ratio and confidence interval at 95% were determined. Variables statistically significant were analyzed and compared by log-rank tests. RESULTS: The median follow-up was 73.9 months (range, 3-202 months). Cumulative probabilities of survival by Kaplan-Meier analysis at 3 and 5 years, respectively, were: 59% and 48% for retinopathy; 71% and 55% for cataracts; 63% and 57% for retinal detachment; 88% and 79% for optic neuropathy; 87% and 83% for vitreous hemorrhage; 92% and 89% for neovascular glaucoma, respectively. Using multivariate analysis, statistically significant risk factors were: age, tumor apical height, dose to foveola, and location of anterior border for retinopathy; age, dose to lens, type of plaque, and tumor shape, for cataracts; age, tumor apical height, and size of the plaque for retinal detachment; age, plaque shape, longest basal dimension, and BED to optic nerve for optic neuropathy; age, tumor apical height, and tumor shape for vitreous hemorrhage; tumor apical height and BED to foveola for neovascular glaucoma. CONCLUSIONS: Tumor factors in addition to radiation treatment may contribute to secondary effects. Enhanced clinical optimization should evaluate radiobiological doses delivered to the tumor volume and surrounding normal ocular structures.

Visual outcome after posterior uveal melanoma episcleral brachytherapy including radiobiological doses.

PURPOSE: To assess the long-term influence of radiobiological doses in the evolution of visual acuity (VA) in patients with uveal melanoma treated by episcleral brachytherapy. MATERIAL AND METHODS: Visual acuity was evaluated prospectively from a case series of 243 patients in 2016 treated with 125I. Data analysis was applied to trend VA outcome and find the accurate best-fit line. Biologically effective dose (BED) was included in survival analysis with the use of Kaplan-Meier and Cox regressions. Hazard ratio (HR) and confidence interval at 95% (CI) were determined. Variables statistically significant were analyzed and compared by log-rank tests. RESULTS: The median follow-up was 74.2 months (range, 3-223). Exponential regression shows a 25% reduction and 50% in visual acuity score (VAS) scale for 5 and 27.8 months, respectively. Cumulative probabilities of survival analysis were 57%, 42%, 27%, and 23% at 3, 5, 10, and 15 years, respectively. Multivariable analysis found tumor height (HR = 1.18, 95% CI: 1.07-1.29), applicator size (HR = 1.22, 95% CI: 1.08-1.36), juxtapapillary localization (HR = 1.70, 95% CI: 1.01-2.84), and dose to foveola (HR = 1.01, 95% CI: 1.00-1.01) significantly associated with VA loss. Log-rank tests were significant for all those variables. BED has a strong influence in univariate model, but not statistically significant in the multivariate one. CONCLUSIONS: Visual acuity changes can be modeled by an exponential function for the first 5 years after treatment. No relation between VA loss and BED has been found; nevertheless, apical height, plaque size, juxtapapillary localization, and dose to fovea were found as statistical significant variables.

Infiltrative Intraocular Conjunctival Squamous Cell Carcinoma after Local Resection and Brachytherapy: Clinical and Pathological Findings.

A pseudophakic 70-year-old man presented to the clinic with a slow-growing conjunctival mass in the left eye. He was diagnosed with a conjunctival exophytic lesion suspicious of invasive conjunctival squamous cell carcinoma (CSCC). Excisional biopsy showed a well-differentiated CSCC with positive margins and the patient underwent adjuvant brachytherapy. Six weeks later, examination of the anterior segment revealed cells in the anterior chamber and a neurotrophic corneal ulcer with corneal perforation. Considering the high suspicion of intraocular invasion of CSCC, the left eye was enucleated. Histopathologic findings showed scarring of the ciliary body with fibrosis temporally. Nasally, the sclera showed a lobular infiltration of well-differentiated squamous carcinoma. The central cornea exhibited a large ulcer with perforation and infiltrating squamous cells adhering to the posterior surface. To our knowledge, this is the first documented case of an intraocular diffuse recurrence of CSCC after resection and adjuvant brachytherapy, with clinicopathologic correlation of radiation effects on the ocular tissues.

Pattern of Local Recurrence After I-125 Episcleral Brachytherapy for Uveal Melanoma in a Spanish Referral Ocular Oncology Unit.

PURPOSE: To describe the time, frequency, and clinical characteristics of treatment failure after I-125 brachytherapy in patients with uveal melanoma treated and followed in a Spanish referral ocular oncology unit. DESIGN: Prospective, consecutive, interventional case series. METHODS: Patients diagnosed with uveal melanoma from 1995 to 2016 and treated with episcleral brachytherapy were included. Demographic data collection, ophthalmic evaluation, ultrasound scan, and systemic studies were performed at baseline, every 6 months thereafter for 5 years, and subsequently at annual intervals. Recurrence was defined as presence of tumor growth after treatment. Baseline analysis was performed by descriptive methods and survival by Kaplan-Meier curves. RESULTS: From 732 patients diagnosed with uveal melanoma, 311 were treated with brachytherapy. In the follow-up (mean 79 months, standard deviation = 55), 16 local tumor recurrences (5.1%) were detected. All relapsing patients had choroidal tumors and 15 presented with visual symptoms. All patients were treated with I-125 brachytherapy, and 2 received associated transpupillary thermotherapy. All the eyes were enucleated after recurrence. Kaplan-Meier analysis showed a mean time of recurrence of 3.7 years (standard deviation = 2.94 years, ranging from 1 to 12 years). Three patients had metastasis in the follow-up. Kaplan-Meier analysis showed worse survival for patients with recurrence. CONCLUSION: Local treatment failure was a relatively infrequent event after I-125 brachytherapy in our series. Recurrences appear not only early but also late in the follow-up. They do not have a distinctive clinical pattern and are associated with poorer survival.

Choroidal melanoma recurrence after episcleral brachytherapy and transpupillary thermotherapy.

A 68-year-old man diagnosed with choroidal melanoma (CM) in the right eye underwent treatment with episcleral brachytherapy (I125) and transpupillary thermotherapy. Ultrasound, computed tomography, and magnetic resonance imaging were performed and revealed ocular recurrence of CM. Treatment with extended enucleation was performed. Macroscopic and microscopic examinations revealed extraocular extension and malignant cells, respectively. Immunohistochemistry demonstrated tumoral Melan-A and HMB-45 expression. No cytogenic abnormalities were detected with fluorescence in situhybridization of tumor cells using probes against chromosomes 3q27 and 8q24. The patient underwent adjuvant external beam radiotherapy for treatment of residual tumor tissue. This case represents the first reported case of recurrent CM with no cytogenetic abnormalities and the absence of metastatic disease, despite a number of the poorest prognostic factors.

Choroidal melanoma recurrence after episcleral brachytherapy and transpupillary thermotherapy / Recorrência melanoma de coroide após a braquiterapia episcleral e termoterapia transpupilar

ABSTRACT A 68-year-old man diagnosed with choroidal melanoma (CM) in the right eye underwent treatment with episcleral brachytherapy (I125) and transpupillary thermotherapy. Ultrasound, computed tomography, and magnetic resonance imaging were performed and revealed ocular recurrence of CM. Treatment with extended enucleation was performed. Macroscopic and microscopic examinations revealed extraocular extension and malignant cells, respectively. Immunohistochemistry demonstrated tumoral Melan-A and HMB-45 expression. No cytogenic abnormalities were detected with fluorescence in situhybridization of tumor cells using probes against chromosomes 3q27 and 8q24. The patient underwent adjuvant external beam radiotherapy for treatment of residual tumor tissue. This case represents the first reported case of recurrent CM with no cytogenetic abnormalities and the absence of metastatic disease, despite a number of the poorest prognostic factors.

RESUMO Um homem de 68 anos de idade com diagnóstico de melanoma de coroide no olho direito foi submetido a tratamento com braquiterapia episcleral (I125) e termoterapia transpupilar. Ultrassonografia, tomografia computadorizada e ressonância magnética foram realizadas para avaliar a presença de recorrência ocular ou doença sistêmica. Enucleação ampliada foi realizada para tratar a recorrência ocular. O exame macroscópico e microscópico revelou o tipo de célula tumoral e a extensão extraocular. Colorações por Melan-A e HMB-45 foram realizadas. A fluorescência por hibridização in situ com sondas para os cromossomos 3q27 e 8q24 não mostraram anormalidades citogenéticas. O paciente foi submetido a radioterapia externa adjuvante para o tratamento de tumor residual orbitário. Este caso representa a o primeiro relato de paciente sem anomalias citogenéticas e sem doença metastática, apesar de demonstrar alguns dos mais pobres fatores prognósticos.

Bilateral episcleral brachytherapy in simultaneous choroidal melanoma and circumscribed hemangioma.

PURPOSE: To describe the efficacy of episcleral brachytherapy in a choroidal melanoma and circumscribed hemangioma arising in both eyes of the same patient. CASE REPORT: We present the case of a 47 year old man who presented decreased visual acuity a few months preceding initial consult. On fundoscopy, he presented a melanotic lesion in the right eye, and a red-orange choroidal mass in the macular area of the left eye. MATERIAL AND METHODS: B scan-ultrasound, fluorescein, and indocyanine green angiography, confirmed the diagnosis of choroidal melanoma in the right eye, and circumscribed choroidal hemangioma in the left eye. Episcleral brachytherapy with (125)I was performed in both eyes consecutively. RESULTS AND CONCLUSIONS: Bilateral episcleral brachytherapy successfully treated both tumors, preserving the eyes and useful visual function.