Ciliary Body Medulloepithelioma: Clinical and Pathologic Challenges with a Focus on Molecular Genetics.

Objective: Ciliary body medulloepithelioma (CBME), a pediatric intraocular tumor with potential for locally aggressive behavior and metastasis, may present with a diverse spectrum of clinical and histopathologic features leading to diagnostic and management challenges. Examination of unusual CBME cases highlights challenges and modern diagnostic techniques which facilitate accurate diagnosis and guide management.

Methods: A retrospective clinicopathologic analysis of 6 patients with unusual clinical or pathologic features of CBME was performed.

Favorable Outcomes of Patients With High-Risk Uveal Melanoma Treated With a Novel Linear Accelerator-Based Frameless Fractionated Stereotactic Radiosurgery.

Purpose: Uveal melanoma (UM) represents the most prevalent and aggressive intraocular malignancy in adults. This study examined the outcomes of patients diagnosed with high-risk UM who underwent fractionated stereotactic radiosurgery (fSRS) treatment utilizing a novel Linear Accelerator (LINAC)-based frameless technique.

Design: Retrospective, interventional case series.

Tissue Glue-Assisted Plaque Radiotherapy for Choroidal Tumors with Scleral Thinning.

Purpose: To evaluate tissue glue-assisted plaque placement regarding accuracy, stability, and longer-term outcomes for choroidal tumors with scleral thinning.

Methods: All patients with tissue glue-assisted plaque radiotherapy at a single ocular oncology center were evaluated for patient demographics, tumor features, surgical details, tumor response, and glue-related complications.

Results: There were 13 patients (mean age 72 years) treated with tissue glue-assisted plaque radiotherapy for choroidal melanoma (n=12) or choroidal metastasis (n=1).

Novel Uveal Melanoma Patient-Derived Organoid Models Recapitulate Human Disease to Support Translational Research.

Purpose: A lack of representative human disease models has limited the translation of new and more effective treatments in uveal melanoma (UM), the most common primary adult intraocular malignancy. To fill this critical need, we developed and characterized a multicenter biobank of UM patient-derived organoids (PDOs).

Methods: UM patients requiring enucleation from 2019 to 2024 donated tumor tissue for PDO generation.

A novel 3D printing method for a notched eye plaque "dummy" for uveal melanoma brachytherapy.

Purpose: Suture preplacement by the ocular oncology surgeon is a critical step before inserting a radioactive plaque for ocular melanoma brachytherapy. We report on a novel 3D-printing method to create a custom "dummy" plaque applicator for the 22 mm notched gold plaque using in-house 3D-printing.

Methods: A computer-aided design (CAD) file was created replicating a heavily used gold plaque that no longer has a satisfactory "dummy" plaque.

Topical 5-fluorouracil 1% for moderate to extensive ocular surface squamous neoplasia in 73 consecutive patients: Primary versus secondary treatment.

Importance: Ocular surface squamous neoplasia (OSSN) is a spectrum of malignancies that generally includes conjunctival intraepithelial neoplasia (CIN) and squamous cell carcinoma (SCC). OSSN can be treated with topical therapies including interferon α-2b (IFN), mitomycin C (MMC), or 5-fluorouracil 1% (5FU). Recently, due to unavailability of IFN and toxicity associated with MMC, therapy has shifted towards 5FU.

Tissue Glue Adhesion for Plaque Radiotherapy of Uveal Melanoma in Humans: An Initial Experience.

Purpose: The aims of this study were to study use of tissue glue instead of conventional suturing and to secure I-125 plaque in human eyes with uveal melanoma.

Methods: We studied 6 patients with choroidal melanoma undergoing plaque radiotherapy who were found to have thin sclera intraoperatively. Following tumor localization and plaque placement, tissue glue was applied over and around the plaque surface.

Unusual conjunctival melanocytic proliferations. Report of five cases and review of the literature.

Indeterminate melanocytic proliferations of the conjunctiva have both benign and malignant features that previously made these lesions nearly impossible to categorize in existing classification schemes. With the evolution of immunohistochemistry and molecular genetics, however, subclassifications have emerged that allow for a more tailored diagnosis and management. These conjunctival melanocytic proliferations include deep penetrating nevus, granular cell nevus, and nevoid melanoma.

Conjunctival melanoma: Insights into classification, outcomes, and biomarkers.

Conjunctival melanoma is quite rare, estimated at approximately 0.5 incidence per 1 million persons per year. This malignancy arises from a pre-existing nevus (7%), primary acquired melanosis (74%), or de novo without pre-existing condition (19%) and develops most often in patients with Fitzpatrick skin types I (23%) and II (62%).

Conditional Metastasis of Uveal Melanoma in 8091 Patients over Half-Century (51 Years) by Age Group: Assessing the Entire Population and the Extremes of Age.

Purpose: To evaluate cumulative incidence of metastasis at specific timepoints after treatment of uveal melanoma in a large cohort of patients and to provide comparison of conditional outcomes in the youngest and oldest cohorts (extremes of age).

Methods: Retrospective analysis of 8091 consecutive patients with uveal melanoma at a single center over a 51-year period. The patients were categorized by age at presentation (0-29 years [n = 348, 4%], 30-59 years [n = 3859, 48%], 60-79 years [n = 3425, 42%], 80 to 99 years [n = 459, 6%]) and evaluated for nonconditional (from presentation date) and conditional (from specific timepoints after presentation) cumulative incidence of metastasis at five, 10, 20, and 30 years.

Bilateral Conjunctival Actinic Granuloma With Necrobiotic Vasculitic Pattern: A Diagnosis of Exclusion.

A 53-year-old Caucasian male presented with an inflamed-appearing limbal nodule in his OD, clinically compatible with nodular episcleritis, that was unresponsive to topical corticosteroid therapy. Excisional biopsy of the lesion was performed and histopathological examination revealed foci of necrotizing vasculitis and granulomatous inflammation in a background of intense actinic elastosis. Infectious stains for organisms were negative.

Truxima (rituximab-abbs) for Periocular Xanthogranuloma with Adult-Onset Asthma and Systemic IgG4-Related Disease.

A 58-year-old female with a 3-year history of adult-onset asthma, bilateral blepharoptosis, dry eye, and yellow-orange xanthelasma-like plaques extensively involving both upper eyelids presented with a diagnosis of adult-onset asthma with periocular xanthogranuloma (AAPOX) and systemic IgG4-related disease. Over the next 8 years, she received 10 intralesional triamcinolone injections (40-80 mg) in the right upper eyelid, 7 intralesional triamcinolone injections (30-60 mg) in the left upper eyelid, underwent right anterior orbitotomy twice followed by 4 doses of rituximab (1000 mg intravenous infusion) without regression of the AAPOX. The patient was then treated with 2 monthly doses of Truxima (1000 mg intravenous infusion), a biosimilar to rituximab.

A Multicenter Analysis of Nucleic Acid Quantification Using Aqueous Humor Liquid Biopsy in Retinoblastoma: Implications for Clinical Testing.

Purpose: Retinoblastoma (RB) is most often diagnosed with clinical features and not diagnosed with tumor biopsy. This study describes tumor-derived analyte concentrations from aqueous humor (AH) liquid biopsy and its use in clinical assays.

Design: Case series study.

Advances in conjunctival melanoma: clinical features, diagnostic modalities, staging, genetic markers, and management.

Conjunctival melanoma, a rare malignancy of the ocular surface, is increasing in incidence. When small, straightforward excision with "no touch" surgery and cryotherapy at an experienced centre can provide excellent outcomes. When advanced, management is more complex and highly individualized.

High local control and low ocular toxicity using ultra-low-dose "boom-boom" radiotherapy for indolent orbital lymphoma.

Background: The first line definitive treatment for early-stage indolent B-cell lymphoma is radiation therapy (RT). Due to the sensitivity of orbital structures to radiation, ultra-low-dose RT (4 Gy in 2 fractions, "boom-boom") has and been utilized as an attractive option for orbital lymphoma. In this retrospective study, we evaluated the outcome and toxicity of "boom-boom" RT for indolent orbital lymphoma with an emphasis on ophthalmologic toxicity.

Conjunctival Melanoma in 430 Cases: Comparative Analysis of the Impact of Orbital Invasion on Tumor Recurrence, Metastasis, and Death.

Purpose: To compare the clinical features at presentation and treatment outcomes of conjunctival melanoma by absence/presence of orbital invasion.

Methods: A retrospective review of patients with conjunctival melanoma managed at a single tertiary referral center from April 18, 1974, to September 9, 2019.

Results: Of 430 patients with conjunctival melanoma, 21 (5%) had orbital invasion at presentation.

Likelihood of germline mutation with solitary retinoblastoma based on tumour location at presentation.

Background/aims: To evaluate the likelihood of germline mutation in patients presenting with solitary retinoblastoma based on tumour location at first examination.

Methods: Retrospective analysis of solitary unilateral retinoblastoma for likelihood of germline mutation (family history of retinoblastoma and/or genetic testing indicating germline mutation and/or development of additional new or bilateral tumours) based on tumur location at presentation (macular vs extramacular).

Results: Of 480 consecutive patients with solitary retinoblastoma, 85 were in the macula (18%) and 395 were extramacular (82%).

Conditional survival of uveal melanoma using The Cancer Genome Atlas (TCGA) classification (Simplified Version) in 1001 cases.

Purpose: To understand conditional prognostic value of the Cancer Genome Atlas (TCGA) for uveal melanoma metastasis based on event-free survival at 1, 2, 3, 4, and 5 years.

Methods: A retrospective study of eyes with uveal melanoma categorized according to TCGA and studied for nonconditional and conditional risks for metastasis at 5 and 10 years.

Results: Of 1001 eyes with uveal melanoma, the nonconditional (standard, at presentation) 5-year/10-year metastatic rate was 18%/25%.

Intramuscular Eyelid Myxoma.

Myxomas are a heterogeneous group of mesenchymal tumors. Soft tissue myxomas are divided into myocardial, intramuscular, juxta-articular, superficial, aggressive, and nerve sheath myxomas. Although benign, myxomas have site-specific biologic behavior and syndromic associations, which can influence prognosis and management.

Ocular adnexal lymphoma: A single-institution retrospective study.

Purpose: To characterize demographic, clinical, and histopathologic features of ocular adnexal lymphoma (OAL) at a single institution.

Methods: Retrospective review of all patients with pathologic diagnosis of OAL between 2015 and 2020.

Results: There were 133 patients with OAL, with a median age of 65 years (range 23-97) and a slight female predominance (male: female = 1:1.

Cyclin D1 Expression and Molecular Genetic Findings in Periocular Histiocytoses and Neoplasms of Macrophage-Dendritic Cell Lineage.

Purpose: Frequent activating mutations in the mitogen-activated protein kinase (MAPK) pathway genes have been identified in histiocytoses. MAPK signaling consistently upregulates cyclin D1. The goal of this study was to determine whether cyclin D1 expression by immunohistochemistry is a useful diagnostic marker for periocular histiocytoses and to further characterize their genetic basis.