Ocular Oncology and Pathology最新文献

Purpose: To report retinal function findings on the choroidal nevus.

Methods: Prospective descriptive case series of 7 patients (n = 7 eyes) presenting a melanocytic choroidal lesion consistent with choroidal nevus and no other ocular disease. Baseline evaluation included measurement of best-corrected visual acuity (BCVA), color and near-infrared fundus pictures, and spectral-domain OCT (Heidelberg Engineering). Retinal function was tested with microperimetry (MAIA; CenterVUE, Padova) using a standard grid (µP1) and a linear grid (µP2) that distribute test points on retinal areas that overlaid the choroidal lesion as well as lesion-free areas equidistantly to the fovea in 3 parallel lines. mfERG was performed following the International Society for Clinical Electrophysiology of Vision (ISCEV) recommendation using a 61-hexyagon protocol.

Results: BCVA was 20/25 (0.1 logMAR) or better in all 7 eyes. Microperimetry showed central stable fixation on all eyes, with mean ± SE sensitivity threshold significantly decreased on retinal areas overlaying the lesions (µP1): 21.8 ± 0.6 dB versus 25.2 ± 0.9 dB on nonaffected retinal areas (p < 0.001). Sensitivity was also decreased on µP2: 23.7 ± 0.2 dB for areas overlying the nevi and 25.7 ± 0.3 dB for the nonaffected retina (p < 0.001). mfERG responses showed no focal amplitude or implicit-time changes on the retina in the topographical region corresponding to the nevus for all patients.

Conclusion: Our results indicate that choroidal nevi may cause significant retinal sensitivity impairment, as shown by microperimetry, but preserved mfERG response indicates that the retinal function may be only partially impaired.

Background: Metastatic uveal melanoma (UM) has no effective treatment. To date, no publications have reported immunohistochemical evidence of estrogen receptors (ERs) in UM; however, changes in pathologic reporting for ER in breast carcinoma prompted a re-examination of ER in UM, as it could represent a potential therapeutic target.

Objective: To determine if UM tumors express ER by immunohistochemistry (IHC) using current methodology for breast cancer and to evaluate ER gene expression using a publicly available UM database.

Methods: A retrospective IHC analysis with clinical correlation was performed on 2 cohorts: 57 cases from the Cleveland Clinic (CC) and 50 from the Ohio State University Wexner Medical Center (OSUWMC). Analysis of The Cancer Genome Atlas Project (TCGA) UM Dataset of 80 patients was also performed.

Results: Presence of ER was detected by IHC in 20 of 34 (59%) analyzable cases in the CC cohort. Of the 50 patients in the OSU cohort, 52 specimens from 47 patients were sufficient for analysis. Of these 47 cases, 29 (62%) had tumor that was ER positive in ≥1% nuclei. In the second cohort, positivity was classified as positive (≥10% nuclei, 34% cases) or low positive (1-9% nuclei, 28% cases). In 5 patients, there were paired samples, that is, primary tumor and subsequent recurrence or metastasis, with concordance for ER in 4 of 5 cases. In the TCGA database, elevated ESR1 and ESR2 gene expression was identified in a subset of UM tumors with poor genetic prognostic features.

Conclusions and relevance: Potentially actionable ER expression is present in greater than half of UM cases by IHC. Gene expression of ESR1 and ESR2 was elevated in a subset of UM tumors with poor prognostic features. These data provide a rationale to evaluate ER as a potential target for therapy in UM.

We report a case of an uncommon presentation of Epstein-Barr virus (EBV)-associated plasma cell neoplasm in a patient with a history of prostate cancer and hairy cell leukemia (HCL) in remission after chemotherapy. The diagnosis of an EBV-associated plasma cell neoplasm was challenging as initially the findings were also compatible with a recurrence of HCL. We highlight the value of diagnostic vitrectomy to achieve the diagnosis. Our particular case demonstrates the importance of diagnostic pars plana vitrectomy and aqueous analyses in patients with uveitis of an unknown cause to confirm the diagnosis.

Introduction: The aim of this study was to elucidate the long-term outcomes in patients with choroidal melanoma who received episcleral brachytherapy with 125-I seeds; analyse cause-specific survival (CSS), metastasis-free survival (MFS), and local control; and establish the relationship between tumour size and metastases.

Methods: From May 2007 to February 2013, 88 patients classified according to the American Joint Committee on Cancer guidelines underwent ultrasound-guided episcleral brachytherapy with a total prescribed dose of 72.40 Gy to the apex.

Results: Among the included cases, 47.7 and 44.3% had a clinical tumour stage of T2 and T3, respectively. With a median follow-up of 84 (range 7-153) months, local control at 5 and 10 years was 100 and 95%, respectively. Among the 88 patients, 9 (10.2%) were enucleated after brachytherapy. Those with T1-T2 and T3-T4 disease had a 10-year CSS of 100 and 87.3%, respectively (p = 0.017). MFS at 5 and 10 years was 100% in those with T1-T2 disease and 92.1 and 83.1% in those with T3-T4, respectively (p = 0.016). Five patients had liver metastases, all of whom had T3-T4 disease.

Conclusion: Ultrasound-guided episcleral brachytherapy with 125-I seeds yielded excellent local control for choroidal melanoma, with low complication rates and 90% eye preservation. Given the association between tumour stage and liver metastases, which remain the main cause of death, stricter control should be employed for T3-T4 tumours for the early detection and treatment of relapses.

Though survival in bilateral retinoblastoma (RB) has improved due to advancement in diagnostics and treatment modalities, children require long-term follow-ups for recurrence and second malignancies. We report a case of bilateral RB in a 7-month-old baby who was treated with chemotherapy, transpupillary thermotherapy, and periocular carboplatin for both eyes following which there was complete regression of tumour. Six and a half years after treatment, the child presented with metastatic recurrence of tumour in the left ulna. He was treated successfully with chemotherapy, extracorporeal radiation and reimplantation therapy. A less aggressive treatment approach for isolated bone relapse may be considered in selected cases.

Objective: The aim of this study was to determine the sensitivity and specificity of the MOLES scoring system in differentiating choroidal melanomas from nevi according to Mushroom shape, Orange pigment, Large tumor size, Enlarging tumor, and Subretinal fluid (SRF).

Methods: Color photographs, fundus-autofluorescence images, and optical coherence tomography of 222 melanocytic choroidal tumors were reviewed. Each MOLES feature was retrospectively scored between 0 and 2 and tumors categorized as "common nevus," "low-risk nevus," "high-risk nevus," and "probable melanoma" according to the total score. MOLES scores were compared with the experts' diagnosis of melanoma.

Results: The MOLES scoring system indicated melanoma in all 81 tumors diagnosed as such by ocular oncologists (100% sensitivity) and nevus in 135 of 141 tumors given this diagnosis by these experts (95.7% specificity). Of the 6 tumors with discordant diagnoses, 4 had basal diameters exceeding 6 mm, all with SRF and/or orange pigment, and 2 small tumors showed either significant SRF with traces of orange pigment, or vice versa.

Conclusions: The MOLES system for diagnosing melanocytic choroidal tumors compares well with expert diagnosis but needs to be evaluated when deployed by ophthalmologists and community optometrists in a wide variety of working environments.

Background: Despite a higher incidence and worse prognosis of uveal melanoma (UM) in men, there have been many case reports of pregnant patients with aggressive UM. This has led researchers to explore the influence of sex hormones and pregnancy on the development and progression of UM and hormones as potential therapeutic targets.

Summary: A systematic literature review was conducted. More work is needed to elucidate the basis of sex differences in UM incidence and survival. The evaluation of germline BAP1 mutation would be beneficial in patients with UM presenting at a young age. Importantly, multiple studies reported no significant difference between the 5-year survival and 5-year metastasis-free survival rates between nonpregnant women with UM and pregnant women with UM. Multiple case-control studies disagree on how parity affects risk of UM. However, most studies agree that oral contraceptives and hormone replacement therapy have no effect on the incidence of UM. Current treatment strategies for pregnant patients with UM are discussed. Looking forward, this review reports recent research on targeted receptor-based chemotherapy, which is based on evidence of estrogen receptor (ER), estrogen-related receptor alpha (ERRα), and luteinizing hormone-releasing hormone (LHRH) receptor expression in UM.

Key messages: Based on review of the literature, UM is not a contraindication to oral contraceptives, hormone replacement therapy, or pregnancy. Globe-sparing radiation can be used as a treatment option for pregnant patients. Due to the presence of ER on a subset of unselected UM, its potential for adjunctive targeted therapy with agents like tamoxifen should be explored. Lessons from cutaneous melanoma regarding tissue ratios of estrogen receptors (ERα:ERβ) should be applied to assess their therapeutic predictive value. In addition, ERRα-targeted therapeutics and LHRH analogs are worthy of further exploration in UM.

This report describes the histopathological findings of an iris melanoma that developed in a patient with retinitis pigmentosa (RP). A 66-year-old man was referred to our hospital with a diagnosis of iris tumor. He had a medical history of RP for over 25 years. His best corrected visual acuity at presentation was 20/20 (OD) and 20/200 (OS). Slit lamp examination revealed an iris melanocytoma in his right eye and a brown iris mass involving the pupil in his left eye. Ocular fundus examination of his right eye showed diffuse chorioretinal atrophy with attenuated retinal vessels and scattered pigment. A diagnosis of iris melanoma was made and enucleation of his left eyeball was performed. Histopathological examination of the eyeball showed an iris tumor with proliferation of spindle cells positive for Melan-A, HMB-45, and S-100 protein by immunohistochemistry. Diffuse destruction of retinal architecture was observed, with loss of outer segment and replacement by glial cells. Accumulation of melanin pigment around retinal vessels was found in peripheral retina. These histopathological findings were compatible with advanced stage of RP. This case demonstrates that iris melanoma can occur in eye with RP.

There are sparse data on neoadjuvant systemic chemotherapy (NACT) in eyelid sebaceous gland carcinoma (SGC). The aim of this study was to evaluate efficacy and outcomes with NACT in eyelid SGC. We retrospectively analyzed 8 patients who received platinum-based NACT. The median number of cycles per patient was 4 (range, 3-5). The mean percentage reduction of tumor diameter after NACT was 71% (range, 30-100%). Two patients had a radiological complete response (CR). After NACT, surgical treatment for residual tumor was performed in 5 cases. One patient had a pathological CR and is recurrence free for 11 years. After a mean follow-up period of 44.5 months (range, 9-109), tumor recurrence occurred in 4 cases. Among these 4 cases, 3 were rechallenged with the same regimen and all responded. Systemic NACT has a role in eyelid SGC, downstages the tumor, and allows less aggressive and organ-sparing surgeries, warranting a prospective study.