Ocular Oncology and Pathology最新文献

Introduction: Radiation retinopathy is a dose-dependent complication of the retina following exposure to ionizing radiation. The objective of this prospective case series is to determine the clinical efficacy of intravitreal aflibercept for radiation retinopathy secondary to radiotherapy for uveal melanoma in those that failed intravitreal bevacizumab treatment.

Methods: A case series of 30 patients with a mean age of 57 ± 15 years with radiation retinopathy were enrolled. Visual acuity (VA) and central foveal thickness (CFT) responses to therapy were assessed with regression analyses at 1 month, 3 months, and 6 months following the switch to aflibercept.

Results: Regression analyses showed a statistically significant reduction in CFT and improvements in VA following the switch to treatment by aflibercept at 1 month, 3 months, and 6 months. The mean CFT improved from 476 μm ± 170 to 386 μm ± 139 and the mean VA improved minimally from 20/115 ± 20/63 to 20/112 ± 20/54 over 6 months. After 6 months of aflibercept, 46% of patients displayed a CFT improvement of 100 μm or greater and 23% of patients showed improvement in VA of 1 line or better.

Conclusion: This pilot study suggests that patients with radiation retinopathy who have failed monthly intravitreal bevacizumab may respond to aflibercept.

Purpose: The purpose of this study was to determine whether the metastatic rates in patients with gene expression profile (GEP) class 1A versus 1B posterior uveal malignant melanoma supported or contradicted predictions of very low metastatic rate in GEP 1A cases and moderate rate in GEP 1B cases.

Patients/methods: 164 patients with a cytopathologically confirmed primary posterior uveal malignant melanoma classified by GEP testing as class 1 (100 GEP 1A, 64 GEP 1B) were evaluated. Kaplan-Meier rates of metastasis were computed and plotted for the GEP class 1 subgroups. Median follow-up of patients who were still alive without metastasis on the date of data analysis was 100.5 months for the GEP 1A patients and 97.2 months for the GEP 1B patients.

Results: The actuarial 5-year rate of uveal melanoma metastasis was 10.8% (std. error = 3.2%) in the GEP 1A patients versus 0% in the GEP 1B patients, and the actuarial 10-year rate of metastasis was 12.2% (std. error = 3.5%) in the GEP 1A patients versus 2.1% (std. error 2.1%) in the GEP 1B patients.

Conclusion: The results of this retrospective single-center study cast doubt on the validity of the prognostic stratification of GEP class 1 posterior uveal malignant melanomas into very low risk (GEP 1A) versus intermediate risk (GEP 1B) of metastasis subgroups provided by the commercially available GEP test.

Introduction: Uveal melanoma (UM) is a rare condition accounting for only 5% of all primary melanoma cases. Still, it is the most frequently diagnosed primary intraocular malignant tumor in adults. UM is an aggressive malignancy that originates from melanocytes in the eye. UMs are usually initiated by a mutation in GNAQ or GNA11, and rarely harbor a BRAF or NRAS mutations like cutaneous melanomas. Even if the primary tumor has been successfully treated with radiation or surgery, up to half of all UM patients will eventually develop metastatic disease. The liver is the most frequent metastatic site, and solitary metastases are rare, especially without hepatic or other organs (such as lung or skin/soft tissue) involvement. Most of treatment options to the metastatic UM are still inadequate in preventing a fatal outcome.

Methods: A chart review of patients diagnosed with UM between January 1998 and December 2018 at the Instituto Português de Oncologia de Lisboa Francisco Gentil was performed.

Results: Three patients with solitary metastases several years after primary UV treatment without any other organ involvement were identified. Patient 1 and 2 showed a very long overall survival and progression-free survival after complete surgical removal of the isolated metastatic lesion from colon and spleen, respectively. The third patient presented with a single brain metastasis from choroidal melanoma harboring the BRAF V600E mutation, a condition rarely reported in UM.

Discussion: The cases highlight long relapse-free survival of UM; hence, a regular long-term follow-up should be mandatory. In addition, solitary metastases from UM should be treated, whenever possible, with a surgical approach, with complete removal as a goal.

Introduction: Anterior uveal melanocytoma (AUM) pose a diagnostic challenge as they can mimic growing melanomas. Establishing a definitive diagnosis of melanocytoma necessitates cytologic or histopathologic confirmation. We describe the clinical presentation and characteristics of fifteen pathologically proven AUM cases and assess the role of fine needle aspiration biopsy (FNAB) as a safe and effective tool for diagnosis.

Methods: Retrospective review of pathologically confirmed AUM cases was performed. Demographic data, presenting symptoms, clinical features, diagnostic approach, cytological and histological features, and clinical outcomes were collected.

Results: Fifteen patients with pathologically confirmed AUM were identified. The mean and median age of diagnosis were 50 and 53 years, respectively (range 3-77 years). The melanocytoma was localized to the iris (5, 33%) or ciliary body (7, 47%), and 3 patients had iridociliary involvement (20%). Presentation was due to concern for growth in 4 (29%), visual symptoms in 1 (7%), and was an incidental finding in 10 (64%) patients. Pigmentation of the tumor varied with 9 (60%) appearing brown and 3 (20%) black in color. The color of 3 (20%) ciliary body tumors could not be assessed. The diagnosis was confirmed with FNAB in 6 (40%), excisional biopsy in 7 (47%), and incisional biopsy in 2 (13%). Cytologic and histologic preparations demonstrated predominance of round to polygonal cells with heavily pigmented cytoplasm and small round nuclei. One patient who underwent excisional biopsy had prior FNAB that was interpreted as suspicious for melanoma (false-positive). Instances of false-negative cytology were not observed as demonstrated by the subsequent stable clinical course during the mean follow-up of 21.2 months (range = 1.0-63.0 months). FNAB-related complications were not observed in any case.

Conclusion: FNAB offers a minimally invasive and safe diagnostic approach for pathologic confirmation of AUM. However, limitations of FNAB including false-negative and false-positive biopsies must be considered when excluding underlying malignancy. Continued observation to document tumor stability should be considered.

Introduction: The aim of this study was to investigate the frequency of recurrences, time to recurrence, and which patients had a recurrence after treatment of conjunctival intraepithelial neoplasia (CIN), carcinoma in situ, and primary acquired melanosis (PAM) with atypia.

Methods: A retrospective chart review of all patients included in the follow-up program after completion of treatment for CIN or PAM with atypia on October 18, 2021, at the Department of Ophthalmology, Sahlgrenska University Hospital, was conducted.

Results: There were five recurrences (5/31, 17%) in the group with CIN or carcinoma in situ: two for patients with CIN grade II and three for individuals with carcinoma in situ. Time to diagnosis of recurrence ranged from 6 to 288 months. No recurrence was diagnosed for the 26 patients followed after treatment for PAM with atypia.

Conclusion: With the strategy of radical treatment for CIN and PAM with atypia, whenever possible, subsequent follow-up can probably be ceased after 10 years if the patient is not immunocompromised. For completely excised PAM with atypia grade I, there is most likely no need for further clinical controls.

Purpose: The aim of the study was to describe choroidal detachments and concurrent scleritis associated with necrotic choroidal metastasis or melanoma.

Methods: We conducted a retrospective case series.

Results: We report 4 patients with scleritis and choroidal detachment with an underlying malignant choroidal tumor. All patients underwent fine-needle aspiration biopsy for cytopathologic characterization of their choroidal tumor, and they all demonstrated evidence of tumor necrosis. Two patients were diagnosed with choroidal metastasis from lung and esophageal adenocarcinoma. Both patients ultimately expired from systemic metastasis. The remaining 2 patients were diagnosed with choroidal melanoma and were successfully treated with plaque radiotherapy.

Conclusion: Choroidal detachment with concurrent scleritis can occur as a rare sequelae of tumor necrosis of an underlying choroidal malignancy.

Introduction: Solitary uveal lesions confer a diagnostic challenge to ophthalmologists. Uveitic lesions most abundantly appear amelanotic and commonly involve the choroid. Most amelanotic choroidal lesions are either neoplastic or inflammatory in origin. In our study, we aimed to describe six uveitic granuloma cases, which were referred to a tertiary ophthalmology center as intraocular tumors.

Methods: Retrospective chart review of 6 patients (7 eyes) who had uveitic granulomas and were referred to a tertiary ophthalmology center as having intraocular tumors.

Results: Mean age on presentation was 47 ± 12.5 years. One lesion was involving the ciliary body only, five lesions had pure choroidal involvement, and one had ciliochoroidal involvement. Mean visual acuity on presentation was 1.7 ± 0.75 (Snellen = 20/1,000) and ranged from 20/80 to light perception. Mean basal diameter of all lesions was 7.7 ± 1.8 mm. Three lesions had moderate echogenicity, two lesions were low to moderate echoic, and one lesion had moderate to high echogenicity on ultrasonography. Three lesions were associated with retinal detachments. Five eyes showed an early hypofluorescence with late hyperfluorescence. Leakage of fluorescein at borders was noticed in 3 lesions. Final diagnosis was presumed intraocular tuberculosis in 4 patients, probable ocular sarcoidosis in 1 patient, and idiopathic solitary uveitic granulomas in 1 patient. Upon treatment, the vision improved to 0.3 ± 0.27 (Snellen = 20/40) and ranged from 20/20 to 20/100 after 4.7 ± 2.9 years of follow-up.

Conclusions: Uveitic granulomas can demonstrate features of ocular tumors. Proper uveitis management leads to a favorable visual outcome and ocular preservation.

Introduction: The aim of this study was to compare the clinical and gene expression variables of uveal melanoma patients presenting before and after the start of the COVID-19 pandemic as surrogate markers in order to assess the pandemic's potential impact on care. Methods: We conducted a retrospective chart review of uveal melanoma patients at Retina Consultants of Texas and assessed tumor size, staging, and gene expression data during two time periods: May 2019 to February 2020 (Group 1: Before the COVID-19 pandemic declaration by the WHO in March 2020) and May 2020 to March 2021 (Group 2: After the start of the COVID-19 pandemic). Results: A total of 80 patients with uveal melanoma were studied (Group 1: 40 [50%] and Group 2: 40 [50%]). There was no statistically significant difference in the tumor thickness (p = 0.768), largest base dimension (p = 0.758), Collaborative Ocular Melanoma Study size class (p = 0.762), and American Joint Committee on Cancer stages (p = 0.872) between the two groups. Additionally, there was no difference in the tumors' gene expression data including gene expression profile class (p = 0.587) and PRAME expressivity (p = 0.861) between the two groups. Discussion/Conclusion: The COVID-19 pandemic had no effect on the presentation of uveal melanoma patients across all tumor characteristics including size, staging, and gene expression data, suggesting there was not a significant diagnostic delay in care for uveal melanoma patients at our center due to the pandemic.