Ocular Oncology and Pathology最新文献

Introduction: The study aimed to investigate the effect of treated retinoblastoma on refractive parameters.

Methods: A case-control study was conducted in the ophthalmology department at Ain Shams University from September 2023 to April 2024. Refractive parameters of treated retinoblastoma eyes were compared to those of age matched: (a) fellow eyes of unilateral retinoblastoma children, (b) normal eyes of healthy controls. Cycloplegic refraction, ocular biometry, and anterior segment optical coherence tomography were performed. Image J software was used to calibrate the radii of curvature of lens surfaces.

Results: The study included 35 diseased eyes and 25 fellow eyes of 49 retinoblastoma subjects as well as 26 normal eyes of 26 healthy controls. A statistically significant difference existed between retinoblastoma eyes and eyes of healthy controls regarding refractive astigmatism (p = 0.02), corneal astigmatism (p = 0.047), anterior chamber depth (p < 0.001), and posterior lens curvature (p = 0.041). A statistically significant difference existed between RB eyes and fellow eyes regarding refractive astigmatism (p < 0.001) and corneal astigmatism (p = 0.001). There was no statistically significant difference between fellow eyes and eyes of healthy controls regarding any of refractive parameters.

Conclusion: Treated retinoblastoma eyes had shallower anterior chamber, more rounded lens, more astigmatic corneas, and more refractive astigmatism than healthy eyes.

Background: Ocular malignancies are rare compared to tumors affecting other organs. The treatment options for these cancers remain limited, mostly restricted to nonspecific chemotherapeutic drugs, radiation therapy, and surgery. Because of their infrequency, these tumors have received minimal attention in the broader field of cancer biology. In recent years, efforts have focused on elucidating the role of molecular pathways driving these ocular tumors with the goal of developing targeted therapies.

Summary: Aurora kinases (AURKs), specifically aurora kinase A (AURKA) and aurora kinase B (AURKB) that play pivotal roles in cell division, have garnered prominence due to their role in tumor progression. Although AURKs have not been extensively explored as therapeutic targets in ocular cancers, a few reports on retinoblastoma (RB) and uveal melanoma (UM) suggest their therapeutic potential. We discuss the functions of aurora kinases in normal and cancer cells, their dysregulation in ocular malignancies, including RB and UM, in this review. We conclude the review with a perspective on how recent therapeutic approaches could improve the efficacy of aurora kinase inhibition.

Key messages: AURKA and AURKB are crucial regulators of tumor progression in RB and UM. Aurora kinase inhibition can be explored as a novel therapeutic strategy.

Introduction: Retinal pigment epithelial detachment (PED) is an uncommon finding associated with choroidal nevi. In this case series, we describe PED overlying a choroidal nevus in 4 patients and discuss the clinical significance of this diagnosis.

Case presentations: Four adult patients diagnosed with unilateral choroidal nevi with associated overlying PEDs were followed over time. Two patients were referred for evaluation due to concerns about potential growth. Fundus photography, B-scan ultrasonography, and optical coherence tomography were performed in all cases. None of the patients developed visual symptoms attributable to the choroidal nevus or PED. No progression or malignant transformation was observed during follow-up.

Conclusion: While PED does not appear to increase the risk of progression to melanoma, it may complicate the evaluation of the underlying choroidal nevus and could lead to decreased visual acuity. Therefore, choroidal nevi with overlying PED should be monitored over time, with particular attention to the potential development of secondary choroidal neovascularization.

Introduction: Chimeric antigen receptor (CAR)-T cell therapies have demonstrated remarkable therapeutic efficacy in leukemias and lymphomas that were previously considered incurable. However, concerns persist over potential risks related to toxicities, including those secondary to activation of the patient's immune system.

Methods: To investigate ocular adverse effects (o-AEs) associated with CAR-T cell therapy, a retrospective cohort study was designed in which data were obtained from the TriNetX aggregated electronic health records database through August 2024, with data analysis performed in August 2024. Billing codes were used to identify patients receiving autologous CAR-T therapy approved by the US Food and Drug Administration (FDA) for the treatment of a hematological malignancy: tisagenlecleucel, brexucabtagene autoleucel, lisocabtagene maraleucel, ciltacabtagene autoleucel, idecabtagene vicleucel, or axicabtagene ciloleucel.

Results: In a cohort of 684 patients on CAR-T therapy with at least 6 months of follow-up, the most prevalent o-AEs were related to vision changes (1.9%), which included vitreous opacities, visual disturbances, diplopia, and visual discomfort; inflammation (1.8%), which included optic neuritis, conjunctivitis, optic papillitis, chorioretinal inflammation, iridocyclitis, zoster ocular disease; and dry eyes (1.6%), which included dry eye syndrome, keratitis, and ocular manifestations of Vitamin A deficiency.

Conclusion: In the period of 6 months following CAR-T therapy infusion, o-AEs were rare in patients receiving CAR-T cell therapy, indicating that patients without existing eye conditions do not need routine prescreening or directed follow-up after treatment, unless symptomatic. Ongoing monitoring and reporting of ocular adverse events will be important given the durable effects of CAR-T therapy in the treatment of hematologic cancers as well as increasing indications for CAR-T therapy in malignant and nonmalignant disease.

Introduction: Ocular surface squamous neoplasia (OSSN) is a broad entity encompassing a spectrum of squamous neoplasms of conjunctiva and cornea. This study aimed to explore the utility of artificial intelligence (AI) models in detecting OSSN from slit-lamp (SL) images.

Methods: This is a retrospective observational study. SL images of OSSN disease, non-OSSN ocular surface lesions (OOSD), and normal ocular surfaces (N) were collected (2013-2023). Images with minimum resolution of 1,024 × 1,024 pixels under diffuse illumination were included. Data were divided into training and testing sets (85:15). Deep learning (DL) algorithms were applied for ternary classification of the SL images (OSSN, OOSD, and normal). Three AI models - MobileNetV2, Xception, and DenseNet121 - were used in the study. A fivefold cross-validation strategy was utilized for robust model evaluation.

Results: A total of 163 images in OSSN group, 202 in OOSD group, and 269 normal ocular surface images were included (n = 634). Data augmentation was performed to increase and balance the data. The average accuracies for OSSN detection for DenseNet121, MobileNetV2, and Xception were 83%, 88.8%, and 84.5%, respectively. MobileNetV2 and Xception had a similar average sensitivity for OSSN detection (74%) while MobileNetV2 was the most specific DL algorithm (96.25%) for OSSN detection.

Conclusions: AI models showed good performance in image-based OSSN detection. AI models may provide a promising tool for OSSN screening in primary health care centers and for teleconsultation from remote areas in the future.

Introduction: Ocular surface squamous neoplasia (OSSN) includes precancerous and cancerous epithelial lesions of the conjunctiva and cornea, typically affecting older adults with risk factors like immunosuppression, sun exposure, and viral infections. Pediatric OSSN is rare, with few reported cases. We present a series of 16 pediatric and adolescent OSSN cases without known genetic or infectious risk factors.

Methods: Descriptive case series at a single tertiary eye care center in Nepal where children with histopathologically proven OSSN were identified, and their disease was characterized.

Results: OSSN was observed in 16 eyes of 16 pediatric patients (6-18 years old) with no identifiable risk factors. All patients were seen at Tilganga Institute of Ophthalmology, Kathmandu, Nepal, between May 2018 and June 2022. All lesions were histopathologically proven as OSSN and characterized by type. Nine (56%) were conjunctival intraepithelial neoplasia (CIN) I, 5 (31%) were CIN II, and 2 (13%) were CIN III. There were no cases of squamous cell carcinoma. None of the patients had xeroderma pigmentosum, HIV, or hepatitis B or C.

Conclusions: This work reports a case series of pediatric OSSN in the absence of risk factors and systemic conditions. More than half of the patients had mild CIN. Though rare, this case series highlights the importance of considering OSSN in the differential diagnosis of pediatric ocular surface lesions, perhaps especially in this geographic location.

Introduction: Primary vitreoretinal lymphomas (PVRL) are a type of central nervous system lymphoma that arise in the retina, vitreous, or optic nerve without initial brain involvement. The clinical diagnosis can be a challenge since the disease mimics uveoretinitis in its presentation and initial treatment response to steroids. Diagnostic confirmation with vitreous cytology has been the gold standard for diagnosis. However, there are limitations of vitreous cytology, such as low volume of sample, low number of lymphoma cells within the sample, and poor preservation of cells due to shearing forces of vitrectomy. There has been a long-standing need for alternative options to improve the diagnostic yield of PVRLs. Recently, MYD88 gene mutations (myeloid differentiation response gene 88) have been found in 69-82.4% of PVRLs.

Case presentations: Case 1: a 89-year-old male presented with a retinal detachment post cataract surgery. He had subsequent surgical repair but continued to have poor and worsening vision and developed constitutional symptoms, including weight loss and decreased appetite. A vitreous sample submitted for molecular studies demonstrated the MYD88 L265P mutation, and a retinal biopsy showed large B lymphocytes infiltrating the retina. Case 2: a 62-year-old female was referred to the Uveitis Clinic for assessment of chronic right eye panuveitis and left eye anterior uveitis. The patient developed symptoms (blurry vision and photophobia) 9 months prior to the referral. A vitreous biopsy was conducted and was negative for MYD88 mutations, and large B cells were not seen on vitreous cytology. The fundus view post-vitrectomy revealed an area of necrotizing retinitis. The patient was started on empiric treatment for herpetic and parasitic etiologies and on high-dose oral prednisone shortly after. She had a further decline in her right eye vision with significant extension of the necrotizing retinitis into the macula and optic disc. A retinal biopsy then revealed atypical large B cells infiltrating the retina.

Conclusion: PVRLs are rare, and establishing the diagnosis is difficult. The traditional use of vitreous cytology has its limitations. Recent molecular advances, in particular the detection of MYD88 mutation, are extremely helpful in confirming the diagnosis, but in certain cases, retinal biopsies may still be required.

Introduction: The objective of this study was to identify and report the clinicopathologic features of two cases of intraocular malignant teratoid medulloepitheliomas with rhabdomyosarcomatous differentiation.

Case presentations: The clinical and pathologic findings in 2 patients who underwent enucleation for intraocular tumors were reviewed. The eyes were sectioned routinely, and immunohistochemical stains were performed to evaluate the intraocular tumors. The left eyes that were enucleated from 3- to 14-year-old females contained intraocular tumors that filled the posterior compartments. The tumors contained both neuroepithelial and mesenchymal components. Immunohistochemical stains were positive for neuron-specific enolase and S-100 in the neuroepithelial components. The mesenchymal components contained rhabdoid cells, which stained for desmin and myogenin. Mutational analysis revealed DICER1 mutations in both tumors. Both tumors were classified as malignant teratoid medulloepithelioma with rhabdomyosarcomatous differentiation.

Conclusions: Intraocular medulloepithelioma may contain areas with rhabdomyosarcomatous differentiation and have DICER1 mutations.

Introduction: Color characterization plays an important role in the diagnosis of choroidal hemangiomas. Hence, fundus photography is a critical ancillary test in the recognition of this disease. We report a color artifact with "true-color" fundus imaging that can lead to a more pigmented appearance of these lesions resulting in incorrect diagnosis.

Methods: This was a single-center retrospective study with chart and imaging review of patients with a diagnosis of choroidal hemangioma from October 2007 to October 2024. Fifteen cases with multimodal confirmation of the diagnosis with fundus photography, indocyanine green angiography, standardized echography, and optical coherence tomography were identified. All cases had fundus imaging with at least 2 different cameras. Pigmentation was graded by a retina specialist and the different fundus photography modalities as well as fundus examinations were compared.

Results: Nine cases had artifactual "true-color" fundus photography with pigmentation. Six cases had a referring diagnosis of choroidal nevus or melanoma. All cases had multimodal imaging with a diagnosis confirming the diagnosis of choroidal hemangioma. Ten of 15 patients received photodynamic therapy, while 5 were observed. The average follow-up for patients was 36 months.

Conclusion: Pigmentation artifact can be present in fundus photography of choroidal hemangiomas even with "true-color" fundus cameras. The Xenon lamp-based cameras tend to produce the most clinically accurate photos. This paper highlights the critical value of the clinical exam for the evaluation of choroidal hemangiomas.

Introduction: Juxtapapillary uveal melanomas limit plaque brachytherapy treatment using the standard 2 mm margin and are often excluded from prospective studies thus limiting data on outcomes and complications. We retrospectively evaluated outcomes in this tumor population following primary iodine-125 plaque brachytherapy.

Methods: We performed a retrospective review over 30 years of patients treated with iodine-125 plaque brachytherapy for juxtapapillary uveal melanoma at a single center.

Results: Patients were white (97%), male (53.2%), 62 years old (median age, median follow-up of 4.1 years), with right eye involvement (54.4%). At 1, 5, and 10 years, local recurrence was observed in 2.2%, 10%, and 24.6%, enucleation in 0.05%, 11.3%, and 22.1%, metastasis in 1.3%, 6.7%, and 14.2%, and mortality in 1.8%, 14.9%, and 32.8%, respectively. Median visual acuity declined from LogMAR 0.1 to 2.0 at last visit. Radiation retinopathy and optic neuropathy were seen in 54.9% and 46%, respectively, of patients by a median of 742 days (2.03 years) and 1,011.5 days (2.77 years).

Conclusions: Juxtapapillary melanomas demonstrated higher rates of vision loss and local recurrence following plaque brachytherapy compared with other tumor configurations. Enucleation, distant metastasis, and overall mortality were comparable to those reported for non-juxtapapillary melanomas.