Ocular Oncology and Pathology最新文献

Purpose: This study aimed to explore factors for refusing treatment in patients diagnosed with uveal melanoma and their subsequent clinical course.

Methods: This study included patients with uveal melanoma who refused standard of care treatment. Patient-reported reasons and pre-existing mental health diagnoses were assessed. The sociodemographic profile was compared with the controls. Ocular survival, metastasis-free survival (MFS), and overall survival (OS) were calculated.

Results: Nine patients with uveal melanoma declined ocular treatment (plaque brachytherapy, n = 7 [78%]; enucleation, n = 2 [22%]). The choroidal melanomas were small (n = 1 [11%]), medium (n = 5 [56%]), and large (n = 3 [33%]) in size (COMS criteria). The sociodemographic profile of the study patients was not different from those that accepted treatment. One patient (11%) had pre-existing mental health diagnosis. Five patients (56%) eventually accepted treatment following an average delay of 19 months (range: 4-55 months) due to neovascular glaucoma or severe vision loss. MFS could not be ascertained, and OS was 67% (6/9) at 4.2 years of follow-up (mean).

Conclusions: Refusal of initial recommended treatment is associated with poor ocular survival. The small sample size did not allow for an evaluation of the impact on survival.

Uveal melanoma (UM) and renal cell carcinoma (RCC) can occur sporadically and as a manifestation of BAP1 tumor predisposition syndrome. We aimed to understand the prevalence of germ line BAP1 pathogenic variants in patients with UM and RCC. We reviewed patients managed at Cleveland Clinic between November 2003 and November 2019 who were diagnosed with UM and RCC. Charts were reviewed for demographic and cancer-related characteristics. RCC samples were tested for BAP1 protein expression using immunohistochemical (IHC) staining, and testing for germ line BAP1 pathogenic variants was performed as part of routine clinical care. Thirteen patients were included in the study. The average age at diagnosis of UM was 61.3 years. Seven patients underwent fine-needle aspiration biopsy for prognostic testing of UM (low risk =5, high risk =2). Twelve patients were treated with plaque radiation therapy, and 3 patients developed metastatic disease requiring systemic therapy. The median time to diagnosis of RCC from time of diagnosis of UM was 0 months. RCC samples were available for 7 patients for BAP1 IHC staining (intact =6, loss =1). All patients underwent nephrectomy (total = 3, partial = 8, unknown =2), and 1 received systemic therapy for metastatic RCC. Six patients underwent germ line BAP1 genetic testing. Of these, 1 patient was heterozygous for a pathogenic variant of BAP1 gene: c.1781-1782delGG, p.Gly594Valfs*48. The overall prevalence of germ line BAP1 pathogenic variants in our study was high (1/6; 17%; 95% CI 0-46%). Patients with UM and RCC should be referred for genetic counseling to discuss genetic testing.

Purpose: The aim of this study was to optimize the technique of performing vitrectomy-assisted biopsy of intraocular tumors by comparing the cytohistological findings in specimens obtained with different vitrectomy probes and cut rates.

Methods: Vitrectomy-assisted biopsies were taken from a fresh porcine liver. For each sampling, the vacuum level was 300 mm Hg. The following parameters were compared; cut rate (60, 600 and 6,000 cuts per minute [cpm]), probe type (standard and two-dimensional cutting [TDC]), and probe diameter (23-gauge and 25-gauge). The specimens were assessed by automated whole-slide imaging analysis and conventional light microscopy.

Results: Seventy-two biopsies were analyzed for the number of hepatocytes, total area of tissue fragments, and total stained area of each microscope slide. For all probe types, these parameters were significantly and positively correlated with the cut rate. TDC probes led to significantly higher scores than those of standard probes, independent of the cut rate. There were no significant differences in results when using 23-gauge or 25-gauge standard probes. Light microscopic examination demonstrated well-preserved cells sufficient for cytohistological analyses in all investigated cases.

Conclusions: The higher the cut rate, the larger is the amount of aspirated cellular material. There were no significant differences between 23-gauge and 25-gauge biopsies. Cut rates up to 6,000 cpm did not adversely affect the cytohistological features of the samples.

Purpose: This report describes a case of relapsed primary breast lymphoma (PBL) presenting as vitreoretinal lymphoma (VRL).

Methods: We describe the clinical and hematopathologic findings in a patient with relapsed PBL involving the vitreous of both eyes.

Results: A 59-year-old woman was treated for PBL with systemic and intrathecal chemotherapy 5 years prior to presentation. Three years later, she presented to an outside clinic with blurred vision in both eyes and bilateral vitritis. She was referred to our clinic with concern for ocular lymphoma. On presentation, the patient's best-corrected visual acuity was 20/40 in the right eye and 20/25 in the left eye with 3+ vitreous cells in the right eye and 2+ vitreous cells in the left eye. Vitreous biopsy of the right eye revealed CD5-negative/CD10-negative B-cell lymphoma cells on flow cytometry. She had no evidence of disease on brain MRI, lumbar puncture, bone marrow biopsy, or full-body CT scans. She was treated with a regimen of rituximab, methotrexate, procarbazine, and vincristine for central nervous system penetration as well as multiple intraocular injections of methotrexate and rituximab with improvement in vision and ocular inflammation bilaterally.

Conclusion: Relapsed PBL can present as bilateral VRL.

Peripapillary and circumpapillary retinal intraocular metastases are rare and present a treatment challenge for ophthalmologists because of the high risk of iatrogenic injury to the optic nerve. There are no clear guidelines on the management of these lesions, and many clinicians will initially observe for improvement of the metastases with systemic chemotherapy before considering local therapy with external beam radiation. Radiation to the optic disc carries a significant risk of injuring the optic nerve, leading to worsening of vision. Alternative treatment approaches are needed. We present a patient with large-cell neuroendocrine carcinoma with metastasis to the peripapillary retina who was treated with intravitreal topotecan and with intravitreal aflibercept. Serial fundus photos, ultrasound, and optical coherence tomography demonstrated a reduction in size of the lesion and a decrease in subretinal fluid with intravitreal topotecan and aflibercept. In addition, visual acuity was stabilized during treatment. Intravitreal chemotherapy for intraocular metastases in vision-sensitive areas such as the peripapillary retina may be a viable alternative for patients who seek to preserve their vision and maintain their quality of life.

Introduction: The purpose of this study is to describe variations in microvasculature before and after treatment of treatment-naive lesions and during consolidation therapy of retinoblastoma lesions using an investigational portable optical coherence tomography angiography (OCTA) system.

Methods: This study is a single-center, prospective, observational case series. Recruited subjects were either undergoing surveillance for retinoblastoma or had newly detected retinoblastoma. Nine tumors from 7 eyes in 6 patients were included. During exams under anesthesia, the tumors were imaged with an investigational portable OCTA system. OCTA images were analyzed to assess vascular changes before and after treatment.

Results: In all 6 presented cases, OCTA imaging revealed distinctive vascular patterns, such as dilated feeder arteries and draining veins, disorganized and complex branching patterns, irregular vessel calibers, and dilation and tortuosity of vessels. After treatment, OCTA imaging revealed decreased intrinsic tumor vascularity and reduced dilation of draining and feeder vessels. Tumor relapse demonstrated prominent vascularity (n = 1) that resolved on repeat OCTA after transpupillary thermotherapy treatment. Type 2 (n = 1), 3 (n = 6), and 4 (n = 1) tumor regression patterns were seen in our patients after treatment, and OCTA findings were consistent with a previously published report. Interestingly, in one of the presented cases, OCTA demonstrated clear feeder, draining, and intrinsic tumor vessels that were not as evident on fluorescein angiography.

Conclusions: OCTA may offer a noninvasive and sensitive technique to evaluate the vasculature of both the tumor and the surrounding retina in retinoblastoma. With additional research and development into its use in patients with retinoblastoma, OCTA may one day be useful in assessing treatment response and residual tumor activity.

Purpose: To evaluate the histopathological characteristics of clinically advanced retinoblastoma (RB) and its relationship with tumor differentiation.

Methods: This was a cross-sectional study of primary enucleated group D/E intraocular RB using medical records from 2017 to 2020 in a tertiary referral hospital. Cases with incomplete histopathological results were excluded. Tumors were classified into well, moderately, and poorly differentiated and undifferentiated. High-risk histopathological features were classified as per Thaung and Karaa [Community Eye Health. 2018;31(101):17-3].

Results: This study included 121 patients (129 eyes), of which 32.2% were diagnosed at 25-36 months. High-risk features (HRFs) were found in 100/129 eyes, and of 73 complete histopathological results, the 2 most common HRFs were postlaminar optic nerve invasion and massive choroidal invasion. RB was poorly differentiated in 69.9% and well differentiated in 12.3% of eyes. There was no statistically significant association between any HRFs and tumor differentiation, with age >2 years associated with tumor differentiation (p < 0.05).

Conclusion: The frequency of HRFs is 77.5% of primary enucleated eyes, mainly poorly and undifferentiated cells, particularly in children aged >2 years old.

Introduction: Trans-scleral biopsy of uveal melanoma (UM) poses an inherent risk of tumor and possibly retinal perforation. We describe a novel technique for trans-scleral biopsy of UM and evaluate its safety and efficacy in an initial cohort of patients.

Methods: A retrospective, consecutive observational case series was conducted from October 14, 2019, to April 15, 2020, at Kaiser Permanente, San Francisco, CA among patients with UM of the ciliary body or anterior choroid undergoing trans-scleral fine-needle aspiration biopsy using a novel guarded needle technique.

Results: A total of 6 patients were included in the study, with a mean age of 64.3 (range 35-77) years (5 women 83%). Mean (±SD) tumor thickness and maximal basal diameter were 6.4 (±2.66) and 11.9 (±2.13) mm, respectively. Five out of 6 patients achieved a successful biopsy with reliable gene expression profiling (GEP) results. The only failure to obtain specimen occurred in the first attempted patient and, after a minor technique modification, all subsequent biopsies were successful. No intraoperative or short-term postoperative complications were observed in any patient.

Conclusion: This novel trans-scleral biopsy technique appears to be safe and effective when obtaining UM tissue for GEP. This method may provide a more controlled biopsy depth thereby minimizing the risk of tumor perforation and its associated complications while still obtaining adequate biopsy yield.

Background: The aim of this study was to report 2 cases of pulmonary air embolism developing several hours after choroidal melanoma endoresection without the use of air infusion during the surgery, with fatality in 1 patient.

Methods: The method of this study was case report.

Participants: Two patients with large choroidal melanomas who collapsed several hours after endoresection without air infusion as a result of pulmonary air embolism.

Results: A 72-year-old man collapsed 4 h and 30 min after endoresection without air infusion. Computerized tomography angiography confirmed air embolism. The patient died after 86 min of cardiopulmonary resuscitation. A 41-year-old woman collapsed 5 h and 30 min after endoresection, performed without air infusion and with close monitoring, which included right internal jugular vein catheterization intraoperatively. Transthoracic and transesophageal echography, performed preoperatively, intraoperatively, and postoperatively, revealed air embolism only after collapse occurred. Imaging showed the embolism to be biventricular because of patent foramen ovale. The patient was treated promptly with extracorporeal membrane oxygenation and mechanical ventilation, which resulted in a full recovery.

Conclusions: Air embolism can develop after endoresection for choroidal melanoma, despite avoiding air infusion. Further studies are needed to understand how this occurs. Special measures are indicated to detect this complication and to treat it promptly and effectively.