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Primary basal cell carcinoma (BCC) of the conjunctiva is a rare tumor with only six cases reported in literature. We present the case of an 81-year-old male complaining of a slow-growing lesion in his right eye for the past 3 years. The lesion in the temporal bulbar conjunctiva was gelatinous and firmly adherent to sclera. Ultrasound biomicroscopy revealed apparent scleral thinning without invasion. Our provisional diagnosis was ocular surface squamous neoplasia; however, incisional biopsy for histopathological diagnosis revealed that it was a BCC. Due to scleral adhesion and thinning, the lesion was not amenable for surgical resection. Plaque brachytherapy was used to successfully treat the lesion. To the best of our knowledge, this is the first report of brachytherapy administration for treatment of this rare cancer. Previously reported cases were all nodular or pedunculated and treated with surgical excision. For flat, adherent, or invasive lesions, plaque brachytherapy is an effective primary treatment modality.
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Introduction: Intramuscular hemangiomas of extraocular muscles are extremely rare tumors that usually present as retro-orbital masses causing proptosis. We describe a previously unreported presentation, in the form of an epibulbar mass; this easily accessible location allows direct imaging, complete surgical resection, and histopathological confirmation, providing a unique perspective. Case Presentation: A 69-year-old woman presented with a painless dark red mass in the lateral part of the right eye, which had been slowly enlarging over the last 18 months. Clinical features and imaging were suggestive of a benign vascular tumor of the conjunctiva. During surgical resection, the mass was observed to be enmeshed within the fibers of the lateral rectus muscle. Careful dissection from muscle fibers was needed for complete excision. Histopathology revealed the diagnosis of an intramuscular hemangioma of extraocular muscle. Conclusion: In this report, we describe the atypical anterior epibulbar presentation of intramuscular hemangioma of the lateral rectus muscle. We discuss the differential diagnoses and management of this rare tumor along with a review of existing literature. Careful surgical resection achieved complete resolution in this case without recurrence.
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Desprendimiento de Retina , Humanos , Desprendimiento de Retina/diagnóstico , Desprendimiento de Retina/etiología , Desprendimiento de Retina/cirugía , Tomografía de Coherencia Óptica/métodos , Agudeza Visual , Masculino , Femenino , Neoplasias del Ojo/diagnóstico , Neoplasias del Ojo/complicaciones , Neoplasias del Ojo/cirugía , Cuerpo Ciliar/patología , Cuerpo Ciliar/diagnóstico por imagen , Vitrectomía , Curvatura de la EscleróticaRESUMEN
A man in his 70s presented with right ocular pain, vision loss and temporal headache 4 days after undergoing laser peripheral iridotomy. The patient had lost 10 lbs over the preceding 6 weeks and had a medical history significant for a previously excised melanoma of the left arm. During the course of investigations, the patient was referred to oncology for workup, ultimately leading to a diagnosis of metastatic melanoma. Visceral metastases were identified in the lungs, right anterior fourth rib, left femoral distal diaphysis and medial side of the right globe. The patient decompensated and died shortly after his first radiotherapy treatment.This is the first published report of suprachoroidal haemorrhage secondary to metastasis from suspected cutaneous melanoma. The case highlights the importance of considering malignancy on the differential diagnosis for a suprachoroidal haemorrhage of unknown aetiology and involving oncology early for workup and treatment.
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Neoplasias del Ojo , Melanoma , Neoplasias Primarias Secundarias , Neoplasias Cutáneas , Masculino , Humanos , Melanoma/patología , Neoplasias Cutáneas/patología , Hemorragia Vítrea/etiología , Hemorragia Vítrea/patología , Neoplasias del Ojo/patología , Cuerpo Vítreo/patología , Neoplasias Primarias Secundarias/patologíaRESUMEN
At our institution, patients diagnosed with choroidal melanoma requiring external beam radiation therapy are treated with two 6 MV volumetric-modulated arcs delivering 50 Gy over 5 daily fractions. The patient is immobilized using an Orfit head and neck mask and is directed to look at a light emitting diode (LED) during CT simulation and treatment to minimize eye movement. Patient positioning is checked with cone beam computed tomography (CBCT) daily. Translational and rotational displacements greater than 1 mm or 1° off the planned isocenter position are corrected using a Hexapod couch. The aim of this study is to verify that the mask system provides adequate immobilization and to verify our 2-mm planning target volume (PTV) margins are sufficient. Residual displacements provided by pretreatment verification and post-treatment CBCT data sets were used to assess the impact of patient mobility during treatment on the reconstructed delivered dose to the target and organs at risk. The PTV margin calculated using van Herk's method1 was used to assess patient motion plus other factors that affect treatment position, such as kV-MV isocenter coincidence. Patient position variations were small and were shown to not cause significant dose variations between the planned and reconstructed dose to the target and organs at risk. The PTV margin analysis showed patient translational motion alone required a PTV margin of 1 mm. Given other factors that affect treatment delivery accuracy, a 2-mm PTV margin was shown to be sufficient for treatment of 95% of our patients with 100% of dose delivered to the GTV. The mask immobilization with LED focus is robust and we showed a 2-mm PTV margin is adequate with this technique.
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ABSTRACT Sarcoidosis is a generalized systemic chronic inflammation that rarely involves the orbit. As a chronic inflammation, sarcoidosis typically manifests with an insidious onset and slowly progressive course. We report a case of acute-onset proptosis resulting from a rapidly growing diffuse orbital mass that simulated malignant growth, which was biopsy proven to be the first manifestation of systemic sarcoidosis. The patient demonstrated complete resolution of proptosis and systemic involvement with long-term corticosteroid treatment.
RESUMO A sarcoidose é uma inflamação sistêmica generalizada que raramente envolve a órbita. Sendo uma inflamação crônica, a sarcoidose geralmente se manifesta com um início insidioso e uma evolução lentamente progressiva. Neste artigo, é relatado um caso de proptose de início agudo, resultante de uma massa orbitária difusa de rápido crescimento, simulando um crescimento maligno, mas cuja biópsia comprovou ser a primeira manifestação de uma sarcoidose sistêmica. O paciente apresentou resolução completa da proptose e do envolvimento sistêmico com tratamento de longo prazo com corticosteroides.
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Uveal melanomas are rare tumors arising from melanocytes that reside in the eye. Despite surgical or radiation treatment, approximately 50% of patients with uveal melanoma will progress to metastatic disease, most often to the liver. Cell-free DNA (cfDNA) sequencing is a promising technology due to the minimally invasive sample collection and ability to infer multiple aspects of tumor response. We analyzed 46 serial cfDNA samples from 11 patients with uveal melanoma over a 1-year period following enucleation or brachytherapy (n = â¼4/patient) using targeted panel, shallow whole genome, and cell-free methylated DNA immunoprecipitation sequencing. We found detection of relapse was highly variable using independent analyses (P = 0.06-0.46), whereas a logistic regression model integrating all cfDNA profiles significantly improved relapse detection (P = 0.02), with greatest power derived from fragmentomic profiles. This work provides support for the use of integrated analyses to improve the sensitivity of circulating tumor DNA detection using multi-modal cfDNA sequencing. Significance: Here, we demonstrate integrated, longitudinal cfDNA sequencing using multi-omic approaches is more effective than unimodal analysis. This approach supports the use of frequent blood testing using comprehensive genomic, fragmentomic, and epigenomic techniques.
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Ácidos Nucleicos Libres de Células , Melanoma , Neoplasias de la Úvea , Humanos , Ácidos Nucleicos Libres de Células/genética , Recurrencia Local de Neoplasia , Melanoma/diagnóstico , Neoplasias de la Úvea/diagnósticoRESUMEN
PURPOSE: To report the genotype and phenotype of a cohort of unselected uveal melanoma (UM) patients who had germline multi-gene panel genetic testing, including the BAP1 gene, from a large multi-ethnic cancer centre. We describe the central role of the medical genetics clinic in collaboration with oncologists in a mainstreaming model to facilitate genetic testing, counselling and streamlining of patients with hereditary cancer predisposition. METHODS: A retrospective chart review of clinical and genetic findings of unselected UM patients who had germline genetic testing between December 2019 and October 2021 was conducted. Extracted DNA from peripheral blood samples were analyzed with a multi-gene panel that included at least six genes associated with hereditary melanoma. The correlation between the genotype and the phenotype of the cohort was evaluated. Statistical analysis comprised descriptive and comparative statistics with significance assigned at p < .05. The genetics clinic streamlined patients among the relevant oncology clinics for cancer screening in germline BAP1 positive individuals. RESULTS: In unselected UM patients, 3.5% (4/114) tested positive for a BAP1 pathogenic variant. Germline BAP1 status was associated with a family history of mesothelioma (p = .0015) and metastatic disease (p = .017). There were no other significant associations between the patient- or tumour-related characteristics and germline BAP1 results. CONCLUSION: A germline BAP1 mutation was detected in 3.5% of unselected UM patients. The oncologist-initiated and genetics-led mainstreaming model is a straightforward process and can be utilized for offering genetic testing to all UM patients.
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Melanoma , Neoplasias de la Úvea , Humanos , Estudios Retrospectivos , Proteínas Supresoras de Tumor/genética , Melanoma/diagnóstico , Melanoma/genética , Melanoma/patología , Pruebas Genéticas , Neoplasias de la Úvea/diagnóstico , Neoplasias de la Úvea/genética , Neoplasias de la Úvea/patología , Mutación de Línea Germinal , Predisposición Genética a la Enfermedad , Ubiquitina Tiolesterasa/genéticaRESUMEN
Purpose: Choroidal melanoma (CM) and ciliary body melanoma (CBM) are the two most common subtypes of uveal melanoma. Starting from the observation that CBM tends to have a higher metastatic potential than CM, we hypothesized that specific cytogenetic abnormalities could be associated with tumor location - reflecting distinct genetic signatures that would drive the risk of distant spread. Methods: Chromosomal alterations were investigated by molecular cytogenetic techniques in 217 and 97 patients with CM and CBM, respectively. Cox proportional hazards regression analysis was used to identify the independent predictors of distant metastasis. Results: Patients with CBM had larger tumor sizes (P < 0.001), higher disease stages (P < 0.001), and more frequently showed distant metastasis (P = 0.002) than those with CM. On analyzing the entire study cohort, we found that specific chromosomal alterations - including chromosome 8p loss (P < 0.001), 1p loss (P < 0.001), and monosomy 3 (P < 0.005) - were independent predictors of distant metastasis. Based on a decision-tree learning algorithm, we identified three specific subgroups of patients with uveal melanoma at high risk of distant spread. Monosomy 3 occurred significantly more frequently in patients with T3 CBM tumors. Conclusions: Specific cytogenetic abnormalities - including chromosome 8p loss, 1p loss, and monosomy 3 - are independent risk factors for distant metastasis in uveal melanoma. Larger tumor size at presentation and monosomy 3 contribute to a higher metastatic risk in patients with CBM.
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Neoplasias de la Coroides , Melanoma , Neoplasias de la Úvea , Humanos , Cuerpo Ciliar/patología , Neoplasias de la Úvea/genética , Neoplasias de la Úvea/patología , Melanoma/genética , Melanoma/patología , Neoplasias de la Coroides/genética , Neoplasias de la Coroides/patología , Deleción Cromosómica , Monosomía , Factores de Riesgo , Cromosomas Humanos Par 3/genéticaRESUMEN
Sarcoidosis is a generalized systemic chronic inflammation that rarely involves the orbit. As a chronic inflammation, sarcoidosis typically manifests with an insidious onset and slowly progressive course. We report a case of acute-onset proptosis resulting from a rapidly growing diffuse orbital mass that simulated malignant growth, which was biopsy proven to be the first manifestation of systemic sarcoidosis. The patient demonstrated complete resolution of proptosis and systemic involvement with long-term corticosteroid treatment.
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Exoftalmia , Enfermedades Orbitales , Sarcoidosis , Humanos , Exoftalmia/etiología , Exoftalmia/patología , Sarcoidosis/complicaciones , Sarcoidosis/tratamiento farmacológico , Sarcoidosis/patología , Enfermedades Orbitales/tratamiento farmacológico , Enfermedades Orbitales/etiología , Enfermedades Orbitales/patología , Órbita , Inflamación/patologíaRESUMEN
Objective: To report the efficacy and toxicity of External beam Radiotherapy (EBRT) as a sole treatment for MALT and Follicular Primary Orbital and Ocular adnexal Lymphoma (POOAL). Methods: Retrospective review of all POOAL patients treated with EBRT utilizing megavoltage photon or electron beam radiotherapy between 2003 and 2015. Patient demographics, tumour extent and pathology, radiotherapy techniques, and treatment outcomes were reviewed. The actuarial rates of tumour control and radiation toxicities were calculated using Kaplan-Meier estimates. Results: This study included 167 tumours, of which MALT lymphoma involved 149 (89â¯%). The conjunctiva and orbit were equally involved as the predominant site (48â¯%). Megavoltage photon radiotherapy was used in 60â¯% of predominantly orbital lymphoma and Electron beam with lens shielding in 77â¯% of the conjunctival lymphoma. The majority (95â¯%) were treated with a total dose of 25â¯Gy in 10 fractions. Local control rate was 98â¯% (CI: 93-100â¯%) at 5â¯years. The long-term RT toxicities included dry eye in 27 eyes (16â¯%) and cataract in 22 (13â¯%). None of the patients developed significant structural or functional radiation toxicity. Conclusion: External Beam Radiotherapy, with lens shielding whenever indicated, at a dose of 20-30â¯Gy delivered over 10-20 fractions is an efficacious and safe primary treatment option for POOAL lymphoma, with excellent local control and low incidence of late manageable ocular toxicities.
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BACKGROUND: Uveal melanoma (UM) and conjunctival melanoma (CM) are distinct entities with different etiologies and genetic background. We present a case of an atypical subconjunctival melanoma arising from a blue nevus. PATIENTS AND METHODS: A 61-year-old female presented with a partially melanocytic epibulbar mass with surrounding episcleral pigmented spots. The lesion was detached from the overlying conjunctiva without an intraocular component. Excisional biopsy revealed a predominantly epithelioid melanoma, that was suggested to be metastasic, although there was no evidence of a primary melanoma elsewhere. RESULTS: Molecular analysis identified GNAQ and BAP1 pathogenic variants, which strongly suggested the diagnosis as a primary epibulbar melanoma arising from episcleral blue nevus. CONCLUSION: This case demonstrates the value of tumor molecular analysis using Next Generation Sequencing (NGS) for differentiating the origin of an unusually located ocular melanoma.
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Melanoma , Nevo Azul , Neoplasias Cutáneas , Neoplasias de la Úvea , Femenino , Genómica , Humanos , Melanoma/diagnóstico , Melanoma/genética , Melanoma/patología , Persona de Mediana Edad , Nevo Azul/genética , Nevo Azul/patología , Neoplasias Cutáneas/genética , Neoplasias de la Úvea/diagnóstico , Neoplasias de la Úvea/genética , Neoplasias de la Úvea/patologíaRESUMEN
We report the first case of pigment-induced glaucoma in a patient presenting with bilateral diffuse uveal melanocytic proliferation (BDUMP) syndrome. Despite treatment with plasma exchange, the patient developed progression of her lesions and bilateral glaucoma. Surgical treatment with Ahmed valve implant was performed to control her increased intra-ocular pressure. This case demonstrates that BDUMP can be a cause of a refractory pigment-induced glaucoma.
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Glaucoma de Ángulo Abierto , Síndromes Paraneoplásicos Oculares , Neoplasias de la Retina , Proliferación Celular , Femenino , Glaucoma de Ángulo Abierto/etiología , Glaucoma de Ángulo Abierto/cirugía , Humanos , MelanocitosRESUMEN
PURPOSE: Uveal melanoma extension to the central nervous system (CNS) is exceedingly rare, and can occur through optic nerve invasion. We report a rare clinical case that presented with cauda equina syndrome as the initial manifestation of metastasis of choroidal melanoma, and showed neurotropic extension by histopathology. Our patient did not demonstrate any evidence of systemic metastasis otherwise. OBSERVATIONS: A 60-year-old male patient with treated choroidal melanoma in his right eye, with presumed clinical control, developed radiation-induced neovascular glaucoma refractory to medical therapy. The eye required enucleation for pain control. One month post-enucleation, he presented to the emergency department with severe abdominal pain, urine retention, constipation, and leg weakness. Magnetic resonance imaging (MRI) of the spine showed extensive leptomeningeal involvement along the entire spinal cord and the cauda equina. On further inquisition, the patient noted prior visual field defect in the contralateral eye. Brain MRI revealed intracranial metastasis with chiasmal involvement. The patient underwent radiotherapy for the brain and spine to improve his symptoms, and was ultimately transferred to palliative care. CONCLUSION AND IMPORTANCE: Optic nerve invasion in uveal melanoma may lead to neurotropic spread of melanoma cells with risk of intracranial and spinal cord metastasis. Neurological symptoms should raise the suspicion of clinicians regarding this complication, which is associated with increased melanoma-related mortality.
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Síndrome de Cauda Equina , Neoplasias de la Coroides , Melanoma , Neoplasias de la Úvea , Humanos , Masculino , Persona de Mediana Edad , Neoplasias de la Úvea/diagnóstico , Neoplasias de la Úvea/radioterapiaRESUMEN
Metastatic uveal melanoma (mUM) is a rare disease. There are limited data on prognostic clinical factors for overall survival (OS) in patients with mUM treated with immune checkpoint inhibitors (ICI). Retrospective and non-randomized prospective studies have reported response rates of 0-17% for anti-PD1/L1 ± anti-CTLA4 ICI in mUM, indicating a potential benefit only in a subset of patients. This study evaluates the characteristics associated with ICI benefit in patients with mUM. We performed a single-center retrospective cohort study of patients with mUM who received anti-PD1/L1 ± anti-CTLA4 ICI between 2014-2019. Clinical and genomic characteristics were collected from a chart review. Treatment response and clinical progression were determined by physician assessment. Multivariable Cox regression models and Kaplan-Meier log-rank tests were used to assess differences in clinical progression-free survival (cPFS) and OS between groups and identify clinical variables associated with ICI outcomes. We identified 71 mUM patients who received 75 lines of ICI therapy. Of these, 54 received anti-PD1/L1 alone, and 21 received anti-PD1/L1 + anti-CTLA4. Patient characteristics were: 53% female, 48% were 65 or older, 72% received one or fewer lines of prior therapy. Within our cohort, 53% of patients had developed metastatic disease <2 years after their initial diagnosis. Bone metastases were present in 12% of patients. The median cPFS was 2.7 months, and the median OS was 10.0 months. In multivariable analyses for both cPFS and OS, the following variables were associated with a good prognosis: ≥2 years from the initial diagnosis to metastatic disease (n = 25), LDH < 1.5 × ULN (n = 45), and absence of bone metastases (n = 66). We developed a Metastatic Uveal Melanoma Prognostic Score (MUMPS). Patients were divided into 3 MUMPS groups based on the number of the above-mentioned prognostic variables: Poor prognosis (0-1), Intermediate prognosis (2) and Good prognosis (3). Good prognosis patients experienced longer cPFS (6.0 months) and OS (34.5 months) than patients with intermediate (2.3 months cPFS, 9.4 months OS) and poor prognosis disease (1.8 months cPFS, 3.9 months OS); p < 0.0001. We developed MUMPS-a prognostic score based on retrospective data that is comprised of 3 readily available clinical variables (time to metastatic diagnosis, presence of bone metastases, and LDH). This MUMPS score has a potential prognostic value. Further validation in independent datasets is warranted to determine the role of this MUMPS score in selecting ICI treatment management for mUM.