Conjunctival leiomyosarcoma.

Purpose: Leiomyosarcoma (LMS) is a mesenchymal neoplasm with smooth muscle differentiation, being considered one of the most common soft tissue sarcomas. However, it rarely affects the eye, and when it does, it is usually located in the orbit, being extremely rare in the conjunctiva. Observations: We report a case of a 45 years old male patient, with a recurrent rapid growing conjunctival mass on the temporal limbus of his left eye, which was excised, and the anatomopathological report was suggestive of a grade 1 leiomyosarcoma. Since the lesion was recurrent, we decided to perform an extended enucleation for treating this condition. Nevertheless, the patient is being followed up to 30 months, with systemic metastasis screening, showing no other lesions or recurrences. Conclusions and importance: Conjunctival leiomyosarcoma is an extremely rare ocular tumor, which can be clinically indistinguishable from other conditions such as squamous cell carcinoma, so, biopsy is essential. Albeit there is no standard treatment, complete surgical removal with safety margins is mandatory.

Acute exudative polymorphous paraneoplastic vitelliform maculopathy (AEPPVM) associated with choroidal melanoma.

BACKGROUND: To report a case of acute exudative polymorphous paraneoplastic vitelliform maculopathy in a patient with a history of choroidal melanoma, with metastases to the pancreas, liver, and central nervous system. CASE PRESENTATION: A 63-year-old patient, with a history of enucleation of the right eye due to choroidal melanoma, complained of progressive visual loss during a follow-up visit. Fundoscopic examination revealed multiple small areas of serous retinal detachment scattered throughout the posterior pole and ancillary tests confirmed the diagnosis of acute exudative polymorphous paraneoplastic vitelliform maculopathy (AEPPVM). Screening for systemic metastases showed pancreatic, hepatic, and central nervous system involvement. CONCLUSIONS: We describe a rare case of acute exudative polymorphous paraneoplastic vitelliform maculopathy, which should be considered in patients with or without a history of melanoma, who have vitelliform retinal detachments. Nevertheless, no previous reviews of literature have shown a correlation between AEPPVM and pancreatic metastasis.

Uveal melanoma.

Uveal melanoma (UM) is the most common primary intraocular malignancy in adults. UMs are usually initiated by a mutation in GNAQ or GNA11, unlike cutaneous melanomas, which usually harbour a BRAF or NRAS mutation. The annual incidence in Europe and the USA is ~6 per million population per year. Risk factors include fair skin, light-coloured eyes, congenital ocular melanocytosis, ocular melanocytoma and the BAP1-tumour predisposition syndrome. Ocular treatment aims at preserving the eye and useful vision and, if possible, preventing metastases. Enucleation has largely been superseded by various forms of radiotherapy, phototherapy and local tumour resection, often administered in combination. Ocular outcomes are best with small tumours not extending close to the optic disc and/or fovea. Almost 50% of patients develop metastatic disease, which usually involves the liver, and is usually fatal within 1 year. Although UM metastases are less responsive than cutaneous melanoma to chemotherapy or immune checkpoint inhibitors, encouraging results have been reported with partial hepatectomy for solitary metastases, with percutaneous hepatic perfusion with melphalan or with tebentafusp. Better insight into tumour immunology and metabolism may lead to new treatments.

Simultaneous squamous cell carcinoma and malignant melanoma of the conjunctiva in a teenager with xeroderma pigmentosum: Case report.

Xeroderma pigmentosum (XP) is an autosomal recessive disease with ophthalmic, dermatologic, and neurologic manifestations. Ophthalmological changes are described in up to 100% of XP patients. We report a young XP patient that presented with bilateral conjunctival masses. She was treated by surgical excision with supplemental cryotherapy. The histopathological analysis revealed squamous cell carcinoma with melanosis on right eye and conjunctival melanoma on the left eye. These patients need to be followed by dermatologists and ophthalmologists to identify malignant lesions as soon as possible and also to prevent unnecessary surgery that increases mutilation.

The Amazon Ocular Oncology Center: The first three years / Centro de Oncologia Ocular do Amazonas: primeiros três anos

ABSTRACT Purpose: To evaluate the first three years of The Amazon Ocular Oncology Center, the first ocular cancer center in the North of Brazil. Methods: Here, we report patient information including patients' age, gender, diagnosis, treatment, and city of origin. Results: Two hundred and twenty-one patients were included on this study: 160 (72%) patients came from the city of Manaus, 52 (24%) from other cities in Amazonas, and 9 (4%) from other states. Of the 221 patients, 150 (68%) were afflicted with benign lesions and the remaining 71 (32%) had malignant lesions. Benign diagnosis included pterygium, chalazium, conjunctival nevus, and papilloma, cataract, and retinal detachment. Of the malignant cases, squamous cell carcinoma (SCC) of the conjunctiva was the most frequent with 43 cases (60%). Other diagnoses included choroidal melanoma (8 cases, 11%), retinoblastoma (7 cases, 9%), lymphomas (5 cases, 7%), basal cell carcinomas of the eyelid (4 cases, 5%), conjunctival melanoma (2 cases, 2%), and Kaposi sarcomas (1 case, 1%). Of the 43 patients with SCC, the mean age was 62 years old, and 30 (69%) were male; 29 patients (67%) were treated with an excisional biopsy, and 14 (33%) were treated with neoadjuvant topic chemotherapy, followed by surgery.

RESUMO Objetivo: Reportar sobre os primeiros três anos do Centro de Oncologia Ocular do Amazonas, primeiro centro de oncologia ocular na região Norte do Brasil. Métodos: Relatamos informações de diagnóstico, idade, sexo, tratamento e cidade de origem dos pacientes atendidos nos 3 primeiros anos. Resultados: Identificamos 221 pacientes, dos quais 160 (72%) eram da cidade de Manaus, 52 (24%) de outras cidades do Amazonas e 9 (4%) de outros estados. Dos 221 casos, 150 (68%) eram lesões benignas e 71 (32%) malignas. Lesões benignas incluíram pterígio, calázio, nevus e papiloma de conjuntiva, catarata e descolamento de retina. Das lesões malignas a mais comum foi o carcinoma escamoso de conjuntiva com 43 casos (60%). Outros diagnósticos incluíram melanoma de coróide (8 casos, 11%), retinoblastoma (7 casos, 9%), linfomas (5 casos, 7%), carcinoma da pálpebra (4 casos, 5%), melanoma da conjunctiva (2 casos, 2%) e sarcoma de Kaposi (1 caso, 1%). Dentre os CEC de conjuntiva, a idade media foi de 62 anos e 30 pacientes (69%) eram do sexo masculino. Vinte e nove casos (67%) foram tratados com biópsia excisional e 14 (33%) com quimioterapia tópica neoadjuvante seguida de cirurgia.

The Amazon Ocular Oncology Center: The first three years.

PURPOSE: To evaluate the first three years of The Amazon Ocular Oncology Center, the first ocular cancer center in the North of Brazil. METHODS: Here, we report patient information including patients' age, gender, diagnosis, treatment, and city of origin. RESULTS: Two hundred and twenty-one patients were included on this study: 160 (72%) patients came from the city of Manaus, 52 (24%) from other cities in Amazonas, and 9 (4%) from other states. Of the 221 patients, 150 (68%) were afflicted with benign lesions and the remaining 71 (32%) had malignant lesions. Benign diagnosis included pterygium, chalazium, conjunctival nevus, and papilloma, cataract, and retinal detachment. Of the malignant cases, squamous cell carcinoma (SCC) of the conjunctiva was the most frequent with 43 cases (60%). Other diagnoses included choroidal melanoma (8 cases, 11%), retinoblastoma (7 cases, 9%), lymphomas (5 cases, 7%), basal cell carcinomas of the eyelid (4 cases, 5%), conjunctival melanoma (2 cases, 2%), and Kaposi sarcomas (1 case, 1%). Of the 43 patients with SCC, the mean age was 62 years old, and 30 (69%) were male; 29 patients (67%) were treated with an excisional biopsy, and 14 (33%) were treated with neoadjuvant topic chemotherapy, followed by surgery.

Proceedings of the Association for Research in Vision and Ophthalmology and Champalimaud Foundation Ocular Oncogenesis and Oncology Conference.

The 2018 Ocular Oncogenesis and Oncology Conference was held through a partnership of the Association for Research in Vision and Ophthalmology (ARVO) and the Champalimaud Foundation. Twenty-one experts from international ocular oncology centers, from the Champalimaud Clinical Centre and the Champalimaud Foundation Cancer Research Program, and from patient advocacy organizations, delivered lectures on subjects that ranged from global ocular oncology, to basic research in mechanisms of ocular malignancy, to clinical research in ocular cancers, and to anticipated future developments in the area. The scientific program of the conference covered a broad range of ocular tumors-including uveal melanoma, retinoblastoma, ocular surface tumors, and adnexal and intraocular lymphomas-and pathogenesis and management were deliberated in the context of the broader systemic cancer discipline. In considering the latest basic and clinical research developments in ocular oncogenesis and oncology, and providing the opportunity for cross-talk between ocular cancer biologists, systemic cancer biologists, ocular oncologists, systemic oncologists, patients, and patient advocates, the forum generated new knowledge and novel insights for the field. This report summarizes the content of the invited talks at the 2018 ARVO-Champalimaud Foundation Ocular Oncogenesis and Oncology Conference.

Metastatic choroidal melanoma to the contralateral eye: a rare case / Melanoma de coróide metátastico para o olho contralateral: caso raro

ABSTRACT Uveal melanoma is the most common adult primary intraocular cancer. Although liver metastasis is common to the natural history of the disease, metastasis to the fellow eye is extremely rare. Here we report the case of a 59-year-old man with choroidal melanoma in his right eye who underwent enucleation at a different center. The patient was referred to our service 21 months postoperatively, complaining of decreased vision. He was found to have a new pigmented choroidal tumor in his left eye associated with liver disease. Ocular ultrasonography and liver biopsy with histopathological and immunohistochemical analysis were performed and confirmed the diagnosis. Few similar cases have been described in the literature. The differential diagnosis included primary bilateral choroidal melanoma and metastatic choroidal tumor from a primary skin melanoma.

RESUMO O melanoma uveal é o câncer intraocular primário mais frequente em adultos. Embora a metástase hepática seja comum à história natural da doença, a metástase para o outro olho é extremamente rara. Aqui relatamos o caso de um homem de 59 anos com melanoma de coroide em seu olho direito que foi submetido à enucleação em um centro diferente. O paciente foi encaminhado ao nosso serviço 21 meses após a cirurgia, com queixa de diminuição da visão. Foi encontrado um novo tumor de coróide pigmentado em seu olho esquerdo associado com doença hepática. Ultrassonografia ocular e biópsia hepática com exame histopatológico e imuno-histoquímico foram realizadas e confirmaram o diagnóstico. Poucos casos semelhantes foram descritos na literatura. O diagnóstico diferencial incluiu melanoma de coróide bilateral orimário e tumor coroidal metastático de um melanoma primário da pele.

Metastatic choroidal melanoma to the contralateral eye: a rare case.

Uveal melanoma is the most common adult primary intraocular cancer. Although liver metastasis is common to the natural history of the disease, metastasis to the fellow eye is extremely rare. Here we report the case of a 59-year-old man with choroidal melanoma in his right eye who underwent enucleation at a different center. The patient was referred to our service 21 months postoperatively, complaining of decreased vision. He was found to have a new pigmented choroidal tumor in his left eye associated with liver disease. Ocular ultrasonography and liver biopsy with histopathological and immunohistochemical analysis were performed and confirmed the diagnosis. Few similar cases have been described in the literature. The differential diagnosis included primary bilateral choroidal melanoma and metastatic choroidal tumor from a primary skin melanoma.

Peptidyl-prolyl cis-trans isomerase A - A novel biomarker of multi-episodic (recurrent) ocular toxoplasmosis.

Ocular toxoplasmosis (OT) is the most common etiology of posterior uveitis. The high incidence of macular scarring associated with OT is a leading cause of visual morbidity. Serum biomarkers of the disease would aid in its diagnosis. This study sought, for the first time, to elucidate serum biomarkers for OT by mass spectrometry. Blood samples were collected from four groups of nine patients each; toxoplasmosis IgG-with no history of uveitis, non-toxoplasmosis uveitis, first episode OT, and symptomatic recurrent OT. Serum was isolated and subjected to proteomics analysis using 2-dimensional gel electrophoresis (2D-GE) and surface-enhanced laser desorption ionization mass spectrometry (SELDI-MS). Selected proteins were further separated by SDS-PAGE and sequenced using tandem MS. Results were cross-validated with a T. gondii outbreak biomarker database that occurred in Brazil. Fifty markers of OT and 46 markers of recurrent disease were discovered by SELDI-MS of which 30 and 15, respectively, were cross-validated. 2D-GE analysis yielded 57 bands, selected based on the intensity of the bands, leading to the identification of 20 proteins. Eleven of those identified candidates were also found by SELDI-MS. Four candidates were chosen for immunoblotting. One serum protein, peptidyl-prolyl cis-trans isomerase A (PPIA), was confirmed as a biomarker of multi-episodic OT by immunoblotting in patients. PPIA can identify the patient with active recurrent OT from acute OT, other forms of uveitis and other parasitic infections. A validated PPIA assay may have a role in the diagnosis of the atypical OT patient before more invasive anterior chamber or vitreous tap is performed for PCR analysis or for Goldmann-Witner coefficient calculations. Base-line PPIA levels need to be studied to understand its possible use when deciding for prophylactic antibiotic use in the immunosuppressed sero-positive patient.

Largest case series of Latin American eyelid tumors over 13-Years from a single center in Sao Paulo, Brazil.

PURPOSE: Malignant lesions of the eyelid are the most common eye cancers. Although rarely lethal, late diagnosis can lead to serious visual morbidity. Definitive diagnosis of neoplastic lesions is pathological. Indications and types of eyelid lesions in a single high-volume ophthalmic reference center in Sao Paulo, Brazil, were analyzed. METHODS: The surgical pathological reports of patients who underwent eye removal procedures between January 2000 and December 2012 were retrieved from the electronic database of the Ophthalmology Department and retrospectively reviewed. Data regarding the final anatomopathological diagnosis, sex, and age were analyzed via the χ2 test with Yates' correction. RESULTS: Of the 1,113 eyelid tumors resected over the 13-year study period, 324 (29%) lesions were malignant. The most prevalent lesions were basal cell, squamous cell, and sebaceous gland carcinomas. The median ages of patients (females, n=165, 51%; males, n=159, 49%) with a diagnosis of basal cell, squamous cell, and sebaceous gland carcinomas were 65, 75, and 70 years, respectively. CONCLUSION: This is the largest retrospective cohort analysis of eyelid tumors in a Latin American population. These findings are in agreement with those from large centers in other countries and regions.

Largest case series of Latin American eyelid tumors over 13-Years from a single center in Sao Paulo, Brazil / A maior série de casos de tumores de pálpebra na América Latina ao longo de 13 anos de um único centro em São Paulo, Brasil

ABSTRACT Purpose: Malignant lesions of the eyelid are the most common eye cancers. Although rarely lethal, late diagnosis can lead to serious visual morbidity. Definitive diagnosis of neoplastic lesions is pathological. Indications and types of eyelid lesions in a single high-volume ophthalmic reference center in Sao Paulo, Brazil, were analyzed. Methods: The surgical pathological reports of patients who underwent eye removal procedures between January 2000 and December 2012 were retrieved from the electronic database of the Ophthalmology Department and retrospectively reviewed. Data regarding the final anatomopathological diagnosis, sex, and age were analyzed via the χ2 test with Yates' correction. Results: Of the 1,113 eyelid tumors resected over the 13-year study period, 324 (29%) lesions were malignant. The most prevalent lesions were basal cell, squamous cell, and sebaceous gland carcinomas. The median ages of patients (females, n=165, 51%; males, n=159, 49%) with a diagnosis of basal cell, squamous cell, and sebaceous gland carcinomas were 65, 75, and 70 years, respectively. Conclusion: This is the largest retrospective cohort analysis of eyelid tumors in a Latin American population. These findings are in agreement with those from large centers in other countries and regions.

RESUMO Objetivo: As lesões malignas de pálpebras são os cânceres oftalmológicos mais frequentes. Embora raramente letal, o diagnóstico tardio pode levar a diversas complicações severas e a uma alta taxa de morbidade visual. O diagnóstico definitivo de lesões neoplásicas é patológico. No presente estudo, revisamos casos de um único centro de referência oftalmológica de maior volume em São Paulo, Brasil. Métodos: Avaliação retrospectiva de todos os tumores palpebrais operados entre os anos de 2000 e 2012 no Departamento de Oftalmologia. Dados incluindo diagnóstico anatomopatológico final, sexo e idade - foram analisados através do método χ2 YATES. Resultados: Dentre os 1.113 tumores palpebrais ressecados no período de estudo de 13 anos, 324 (29%) dos pacientes com lesões únicas eram malignas. A lesão mais prevalente foi Carcinoma Basocelular (CBC), seguido por carcinoma espinocelular (CEC) e carcinoma de células sebáceas (CCS). A média da idade dos pacientes com diagnóstico de CBC, CCS e CEC foi 65, 75 e 70 respectivamente distribuídos entre 165 (51%) mulheres e 159 (49%) homens. Conclusão: Essa é a maior análise de coorte retrospectivo de tumores palpebrais da América Latina. Nossos achados estão de acordo com outros grandes centros de outros países e continentes.

Outcomes of primary endoresection for choroidal melanoma.

PURPOSE: To review long time treatment results in patients with small or medium sized choroidal melanoma who underwent surgical tumor endoresection as a primary treatment when plaque radiotherapy was unable and patients declined enucleation. MATERIALS AND METHODS: Patients were evaluated for best corrected visual acuity (BCVA), and underwent biomicroscopy, indirect ophthalmoscopy, retinography and ultrasound as well as the usual systemic workup. Study inclusion required the absence of scleral invasion or metastasis and an anterior margin not exceeding the pars plana or the ciliary body. Surgery consisted of a clear lens phacoemulsification with a PC-IOL, and a 23-gauge pars plana vitrectomy with anterior vitreous shave, lesional choroidal endodiathermy, followed by 23-gauge probe tumor endoresection and continuous endolaser. Patients were followed at post-operative 1 day, 1 week, 1, 3, and 6 months and then every 6 months with a complete ophthalmological exam including ultrasound biomicroscopy and systemic follow-up at 3, 6 and every 6 months thereafter. RESULTS: Fourteen patients with choroidal melanoma were included the study. Pre-operative BCVA ranged from 20/20 to hand motion (HM): 20/20 (n = 2); 20/60 (n = 1); and HM (n = 10). Pathological analysis confirmed the diagnosis of uveal melanoma in all cases. Mean follow-up was 54.5 months (45-66 months) with a final BCVA ranging from 20/60 to HM: 20/60 (n = 1); 20/60 to 20/200 (n = 10); and HM (n = 2). The eye retention rate in our study was 100%. No intraocular recurrence was observed. One patient died 12 months after surgery from metastatic disease. CONCLUSION: Endoresection appears to be an acceptable alternative to enucleation for the treatment of posteriorly-localized uveal melanoma, with excellent local control and eye salvage rates.

Indications for eye removal over a 13-year period at an ophthalmology referral center in São Paulo, Brazil.

PURPOSE:: To analyze the indications and types of eye removal at Latin America's highest-volume ophthalmic reference center in São Paulo, Brazil. METHODS:: A retrospective analysis was conducted of surgical pathological reports in the electronic database of the Ophthalmology Department of the Universidade Federal de São Paulo Hospital of patients who underwent eye-removal procedures between January 2000 and December 2012. RESULTS:: A total of 412 cases met the inclusion criteria for this study. The most common indications for eye removal were ocular melanoma and retinoblastoma, representing 35.4% and 31.1% of the total cases, respectively. Other frequent indications included endophthalmitis (6.3%), nonspecific inflammation (4.1%), squamous cell carcinoma (3.6%), panophthalmitis (3.4%), and phthisis bulbi (1.2%). The remaining indications accounted for 14.8% of all cases, with each accounting for <1% of the total cases. Enucleation was the most common eye-removal procedure seen in our study. CONCLUSIONS:: The two most common indications for eye removal were ocular melanoma and retinoblastoma. Alternative treatment options are effective in limiting the need for eye removal but are constrained by our public center's so cioeconomic context.

Indications for eye removal over a 13-year period at an ophthalmology referral center in São Paulo, Brazil / Indicações para remoção ocular ao longo de um período de 13 anos no centro de referência oftalmológica em São Paulo, Brazil

ABSTRACT Purpose: To analyze the indications and types of eye removal at Latin America's highest-volume ophthalmic reference center in São Paulo, Brazil. Methods: A retrospective analysis was conducted of surgical pathological reports in the electronic database of the Ophthalmology Department of the Universidade Federal de São Paulo Hospital of patients who underwent eye-removal procedures between January 2000 and December 2012. Results: A total of 412 cases met the inclusion criteria for this study. The most common indications for eye removal were ocular melanoma and retinoblastoma, representing 35.4% and 31.1% of the total cases, respectively. Other frequent indications included endophthalmitis (6.3%), nonspecific inflammation (4.1%), squamous cell carcinoma (3.6%), panophthalmitis (3.4%), and phthisis bulbi (1.2%). The remaining indications accounted for 14.8% of all cases, with each accounting for <1% of the total cases. Enucleation was the most common eye-removal procedure seen in our study. Conclusions: The two most common indications for eye removal were ocular melanoma and retinoblastoma. Alternative treatment options are effective in limiting the need for eye removal but are constrained by our public center's so cioeconomic context.

RESUMO Objetivo: Analisar os tipos e indicações para a remoção dos olhos no maior centro de referência oftalmológica da América Latina em São Paulo, Brasil. Métodos: Revisão retrospectiva de laudos cirúrgico patológico em uma base de dados eletrônica do Departamento de Oftalmologia do Hospital da Universidade Federal de São Paulo. Foram analisados pacientes submetidos ao procedimento de remoção oftálmica no período de janeiro de 2000 a dezembro de 2012. Resultados: Um total de 412 casos estiveram de acordo com os critérios de inclusão desse estudo. A indicação mais comum para remoção oftálmica foi Melanoma ocular e Retinoblastoma, representando, respectivamente, 35,4% e 31,1% do total de casos. Outras indicações frequentes incluíam Endoftalmite 6,3%, Inflamação inespecífica 4,1%, Carcinoma escamocelular 3,6%, Panoftalmite 3,4% e Phthisis Bulbi 1,2%. O restante das indicações totalizaram 14,8% de todos os casos, sendo que cada um correspondem com menos de 1% do total. Enucleação foi o procedimento de remoção oftálmica mais comum observado em nosso estudo. Conclusão: As duas indicações mais frequentes para remoção oftálmica no centro oftalmológico de referência do Brasil foi melanoma e retinoblastoma. Opções terapêuticas alternativas são efetivas para limitar a necessidade da remoção ocular, porém são restritos devido ao contexto socioeconômico de nossa população.