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Eye Cancer

There are a diverse range of cancers that can arise in the eyes. The two most common types are intraocular melanoma and retinoblastoma.

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Ocular Melanoma
Retinoblastoma

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  • PubMed search for publications about Eye Cancer - Limit search to: [Reviews]

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    MeSH term: Eye Neoplasms
    International US National Library of Medicine
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Latest Research Publications

This list of publications is regularly updated (Source: PubMed).

Zhang H, Zhong J, Bian Z, et al.
Long non-coding RNA CCAT1 promotes human retinoblastoma SO-RB50 and Y79 cells through negative regulation of miR-218-5p.
Biomed Pharmacother. 2017; 87:683-691 [PubMed] Related Publications
OBJECTIVE: To investigate the regulatory role and potential mechanism of long non-coding RNAs (lncRNA) in human retinoblastoma (RB).
METHODS: The lncRNA profile in RB tissues were analyzed by microarray and quantitative reverse transcription PCR (qRT-PCR). One of the identified lncRNAs (LncRNA CCAT1) was selected for further experiments. SO-RB50 and Y79 cells were transfected with negative control, siRNA targeting lncRNA CCAT1 (si-CCAT1) and si-CCAT1+miR218-5p inhibitor, respectively. lncRNA CCAT1 expression was measured by qRT-PCR. Cell proliferation, migration and invasion were detected by CCK8, wound scratching, and transwell assay, respectively. Apoptosis and cell cycle distribution were assessed by flow cytometry. Apoptosis- (cle-caspase-3, cle-caspase-9, Bax and Bcl-2) and cell cycle-related protein expression (cyclin B1, CDC2 and p-CDC2 (Thr161)) were analyzed by Western blot.
RESULTS: lncRNA CCAT1 expression in SO-RB50 and Y79 cells was significantly inhibited after si-CCAT1 transfection (P<0.01). Both RB cells exhibited significantly reduced proliferation, migration and invasion abilities, but markedly increased apoptosis at 48h after si-CCAT1 transfection (P<0.05 or 0.01). RB cells in si-CCAT1+miR218-5p inhibitor group had significantly higher proliferation, migration and invasion, but notably lower apoptosis compared with si-CCAT1 group at 24 and 48h after transfection (all P<0.05 or 0.01). si-CCAT1 significantly increased the expression of cle-caspase-3, cle-caspase-9, Bax, but decreased Bcl-2 expression (P<0.01). The proportion of G2/M SO-RB50 and Y79 cells in siCCAT1 group was significantly increased compared with negative control group (P<0.01). LncRNA CCAT1 interference significantly reduced the expression of cyclin B1, CDC2 and p-CDC2 (Thr161) (P<0.01).
CONCLUSION: LncRNA CCAT1 promotes the proliferation migration and invasion, and reduces cell apoptosis of SO-RB50 and Y79 cells, probably through negative modulation of miR-218-5p. Our study suggested lncRNA CCAT1 as a potential biomarker and therapeutic target for RB.

Papadakis GZ, Millo C, Jassel IS, et al.
18F-FDG and 68Ga-DOTATATE PET/CT in von Hippel-Lindau Disease-Associated Retinal Hemangioblastoma.
Clin Nucl Med. 2017; 42(3):189-190 [PubMed] Related Publications
Retinal hemangioblastomas are highly vascular benign tumors that can be encountered either sporadically or within the von Hippel-Lindau (VHL) syndrome. We report a case of a VHL patient with retinal hemangioblastoma who underwent PET/CT scans using F-FDG and Ga-DOTATATE. The tumor showed low-level F-FDG and increased Ga-DOTATATE activity, suggesting cell-surface overexpression of somatostatin receptors. The presented case indicates the clinical applications of somatostatin receptor imaging with Ga-DOTA-conjugated peptides in detection and follow-up of VHL manifestations, screening of asymptomatic gene carriers, and in diagnosis of sporadic retinal hemangioblastomas, which may have similar features on MRI with other retinal tumors.

Zhang L, Yang X, Zheng Q, Wu M
Binocular indirect ophthalmo microscope-assistant gas-perfused pars plana vitrectomy: A novel technique for vitreous sample acquisition.
Medicine (Baltimore). 2016; 95(49):e5503 [PubMed] Free Access to Full Article Related Publications
The vitreous sample has been used for the diagnosis of uveitis and intraocular malignancy for decades. The sample volume is usually limited to 1 mL with current techniques. In the present study, a novel technique for higher amount of vitreous sample acquisition, that is, Binocular Indirect Ophthalmo Microscope-assistant gas-perfused pars plana vitrectomy (BAG-PPV) was invented.For diagnostic purpose, BAG-PPV with 23-ga vitrectomy system was performed on a 54-year-old Chinese male with the symptom of bilateral atypical uveitis. More than 3 mL of vitreous sample per eye was collected without any significant complications. Cytopathology was confirmed on the basis of cell surface markers and released cytokines by flow cytometry analysis and cytokine assays respectively.A monoclonal B-cell population with the pattern of CD5, CD10, cyKi67, CD71, FMC7, CD23, and kappa light chain single expression for the right eye and a monoclonal B-cell pattern with CD5, CD10, cyKi67, and kappa light chain restriction for the left eye were identified. The cytokine assay revealed high levels of interleukin (IL)-10 (90,838.30 and 41,098.0 pg/mL for the right and left eyes, respectively) and IL10/IL6 ratios for both eyes (with 90.78 and 63.26 for the IL10/IL6 ratios of the right and left eyes, respectively), while those for the cerebrospinal fluid were low (4.77 pg/mL for the IL10 level and 0.65 for the IL10/IL6 ratio). Based on the results, the patient was diagnosed with primary intraocular lymphoma for bilateral eyes.Our results demonstrated that diagnostic vitrectomy with BAG-PPV using the 23-ga vitrectomy system was safe, efficient, and able to provide useful diagnostic information for suspicious intraocular malignancy and other atypical uveitis.

Zhao Y, Wang W, Min I, et al.
BRAF V600E-dependent role of autophagy in uveal melanoma.
J Cancer Res Clin Oncol. 2017; 143(3):447-455 [PubMed] Related Publications
BACKGROUND: Autophagy can function in a dual role in cancer development and progression: It can be cytoprotective or contribute to cell death. Therefore, determining the contextual role of autophagy between these two opposing effects is important. So far, little is known about the role of autophagy in uveal melanoma. In the present study, we looked to investigate the autophagic process, as well as its effect on cell survival in uveal melanoma cell lines under stressed conditions (starvation). The possible role of autophagy during BRAF inhibition in uveal melanoma was also sought.
METHODS: Two human uveal melanoma cell lines, OCM1A, which harbors the BRAF mutation V600E and Mel 290, which is BRAF wild type, were studied. Autophagy levels were determined by Western blot assay with/without the addition of autophagic flux inhibitor (bafilomycin A1). Cell proliferation was assessed by an MTT assay.
RESULTS: Starvation triggered autophagy in BRAF V600E-mutant OCM1A cells but not in BRAF wild-type Mel 290 cells. Enhanced autophagy helped the OCM1A cells survive under stressed conditions. The BRAF inhibitor vemurafenib upregulated autophagy through suppression of the PI3K/Akt/mTOR/p70S6 K pathway in BRAF V600E-mutant uveal melanoma cells. Autophagy inhibition impaired the treatment efficacy of vemurafenib in BRAF V600E-mutant uveal melanoma cells.
CONCLUSIONS: Our data demonstrate that starvation-trigged autophagy, which is BRAF V600E dependent, promotes cancer cell survival in uveal melanoma. Vemurafenib induces autophagic cell death rather than adaptive cell survival in BRAF V600E-mutant melanoma.

Atkinson TM, Hay JL, Shoushtari A, et al.
Relationship between physician-adjudicated adverse events and patient-reported health-related quality of life in a phase II clinical trial (NCT01143402) of patients with metastatic uveal melanoma.
J Cancer Res Clin Oncol. 2017; 143(3):439-445 [PubMed] Article available free on PMC after 01/03/2018 Related Publications
PURPOSE: Clinical trials commonly use physician-adjudicated adverse event (AE) assessment via the common terminology criteria for adverse events (CTCAE) for decision-making. Patient-reported health-related quality of life (HRQoL) data are becoming more frequent in oncology; however, the relationship between physician-adjudicated AE assessment and HRQoL is understudied.
METHODS: Data from a phase II trial (clinicaltrials.gov identifier: NCT01143402) where patients with metastatic uveal melanoma were randomized to receive selumetinib, an oral MEK inhibitor, or chemotherapy were analyzed. Patients reported HRQoL at baseline, after 1 month, and end of treatment (n = 118), whereas physicians adjudicated AEs via CTCAE. Mean HRQoL scores were compared between patient randomization arms, as well as between those patients who did/did not receive dose modifications.
RESULTS: Ninety-four percent had a CTCAE grade ≥1 for at least one treatment-associated AE, with 18% undergoing dose modification due to toxicity. Mean HRQoL scores did not significantly differ at each of the three time points. Patient and physician-adjudicated reports of nausea were significantly correlated at the start (r = 0.31, p < 0.01) and end of treatment (r = 0.42, p < 0.05). There were no significant correlations between need for dose modification and HRQoL scores.
CONCLUSIONS: Despite the high rate of physician-adjudicated AEs and need for dose modifications with selumetinib, patient-reported HRQoL was not impacted by treatment. Since HRQoL did not differ in the subgroup of patients who received dosage reductions due to AEs, patients may be willing to tolerate select AEs without dose modification (if medically appropriate). More research is needed to determine how to best integrate HRQoL data into clinical trial conduct.

Shao Y, Yu Y, Zong R, et al.
Erlotinib has tumor inhibitory effect in human retinoblastoma cells.
Biomed Pharmacother. 2017; 85:479-485 [PubMed] Related Publications
AIM: In this study, we explored the effect of erlotinib on the development of retinoblastoma (RB) cells both in vitro and in vivo.
METHOD: RB cell lines, Y79 and WERI cells were treated with various concentrations of erlotinib in vitro to assess their cytotoxic profiles. In vitro proliferation, cell-cycle transition and migration were compared between RB cells treated with erlotinib and cells without erlotinib treatment. In in vivo tumorigenicity assay, mice were injected with Y79 cells and orally fed with erlotinib for 28days. The effect of erlotinib on in vivo tumor grafts was then assessed. Western blot analysis on EGFR, ERK, AKT proteins and their phosphorylated proteins was also performed to assess molecular signaling pathways of associated with erlotinib in RB cells.
RESULTS: In vitro erlotinib treatment induced cytotoxicity in Y79 and WERI cells in dose-dependent manner. While Y79 and WERI cells were treated with erlotinib close to EC50 concentrations for 3days, RB proliferation, cell-cycle transition and migration were all significantly inhibited. In in vivo tumorigenicity assay, oral induction of erlotinib also dramatically reduced the growth of Y79 tumor grafts. Western blot demonstrated that, in in vitro RB cells, erlotinib did not alter the protein expression levels of EGFR, ERK or AKT, but significantly reduced the expressions of phosphorylated EGFR, ERK and AKT proteins.
CONCLUSION: Erlotinib was shown to have tumor suppressive effect on RB growth in vitro and in vivo, possibly through the inhibition on EGFR, ERG/AKT signaling pathways.

Yan F, Liao R, Farhan M, et al.
Elucidating the role of the FoxO3a transcription factor in the IGF-1-induced migration and invasion of uveal melanoma cancer cells.
Biomed Pharmacother. 2016; 84:1538-1550 [PubMed] Related Publications
Uveal melanoma (UM) is the most common primary intraocular malignant tumor of adults. It has high mortality rate due to liver metastasis. However, the epidemiology and pathogenesis of liver metastasis in UM are not elucidated and there is no effective therapy available for preventing the development of this disease. IGF-1 is a growth factor involved in cell proliferation, malignant transformation and inhibition of apoptosis. In previous report, IGF-1 receptor was found to be highly expressed in UM and this was related to tumor prognosis. FoxO3a is a Forkhead box O (FOXO) transcription factor and a downstream target of the IGF-1R/PI3K/Akt pathway involved in a number of physiological and pathological processes including cancer. However, the role of FoxO3a in UM is unknown. In the present study, we investigated fundamental mechanisms in the growth, migration and invasion of UM and the involvement of FoxO3a. IGF-1 increased the cell viability, invasion, migration and S-G2/M cell cycle phase accumulation of UM cells. Western blot analysis showed that IGF-1 led to activation of Akt and concomitant phosphorylation of FoxO3a. FoxO3a phosphorylation was associated with its translocation into the cytoplasm from the nucleus and its functional inhibition led to the inhibition of expression of Bim and p27, but an increase in the expression of Cyclin D1. The effects of IGF-1 on UM cells were reversed by LY294002 (a PI3K inhibitor) or Akt siRNA, and the overexpression of FoxO3a also attenuated basal invasion and migration of UM. Taken all together, these results suggest that inhibition of FoxO3a by IGF-1 via the PI3K/Akt pathway has an important role in IGF-1 induced proliferation and invasion of UM cells. These findings also support FoxO3a and IGF signaling may represent a valid target for investigating the development of new strategies for the treatment and prevention of the pathology of UM.

Jakobiec FA, Rashid A, Yoon MK
Isolated Nonsyndromic Intraneural Neuroma of the Eyelid Skin.
Ophthal Plast Reconstr Surg. 2016 Nov/Dec; 32(6):e147-e149 [PubMed] Related Publications
A 56-year-old man developed a 2 × 2 mm, yellow-orange painless, smooth-surfaced nodule in the middle third of his left upper eyelid. Microscopic evaluation disclosed a spindle cell tumor that was well circumscribed by a perineurium. The tumor cells manifested wavy, bland nuclei displaying comma-shaped and pointed ends. These cells were uniformly S100 positive. Immunohistochemical analysis further revealed an even dispersion of numerous dot-like neurofilaments diagnostic of an isolated intraneural neuroma. A neuroma differs from a schwannoma which fails to exhibit neurofilaments except in a peripherally located compressed nerve of origin. Simple excision is recommended.

Hughes E, Moran S, Flitcroft I, Logan P
Thyroid malignancy presenting with visual loss: an unusual case of paraneoplastic retinopathy.
BMJ Case Rep. 2016; 2016 [PubMed] Related Publications
Paraneoplastic retinopathy is a rare cause of painless vision loss, associated with an underlying (and often occult) systemic malignancy. Ocular examination findings are subtle, and the diagnosis is often made on the basis of electrophysiology findings. This report describes the case of a 48-year-old Caucasian man with paraneoplastic retinopathy presenting as visual disturbance, central scotomata and abnormal electrophysiology. He was subsequently diagnosed with papillary thyroid malignancy.

Akiyama H, Takase H, Kubo F, et al.
High-dose methotrexate following intravitreal methotrexate administration in preventing central nervous system involvement of primary intraocular lymphoma.
Cancer Sci. 2016; 107(10):1458-1464 [PubMed] Article available free on PMC after 01/03/2018 Related Publications
In order to prevent central nervous system (CNS) involvement and improve the prognosis of primary intraocular lymphoma (PIOL), we prospectively evaluated the efficacy of combined therapy using intravitreal methotrexate (MTX) and systemic high-dose MTX on treatment-naïve PIOL. Patients with newly diagnosed PIOL whose lymphoma was limited to the eyes were enrolled. The patients were treated with weekly intravitreal MTX until the ocular lesions were resolved, followed by five cycles of systemic high-dose MTX (3.5 g/m(2) ) every other week. Ten patients were enrolled in this study and completed the treatment. All patients achieved complete response for their ocular lesions with rapid decrease of intravitreal interleukin-10 concentration. Adverse events of intravitreal and systemic high-dose MTX were mild and tolerable. With a median follow-up of 29.5 months, four patients (40%) experienced the CNS disease development and the mean CNS lymphoma-free survival (CLFS) time was 51.1 months. Two-year CLFS, which was the primary end-point of the study, was 58.3% (95% confidence interval, 23.0-82.1%). In contrast, eight patients were treated with intravitreal MTX alone in our institute, and their 2-year CLFS was 37.5% (95% confidence interval, 8.7-67.4%). In conclusion, systemic high-dose MTX following intravitreal MTX is feasible and might be effective in preventing CNS involvement of PIOL. Further arrangements are worth considering in order to improve the effects. This study was registered with UMIN Clinical Trials Registry (UMIN000003921).

Cheng G, He J, Zhang L, et al.
HIC1 modulates uveal melanoma progression by activating lncRNA-numb.
Tumour Biol. 2016; 37(9):12779-12789 [PubMed] Related Publications
Uveal melanoma (UM) is the most common primary intraocular cancer in adults. Although the diagnosis modality of primary UM was improved significantly, there are currently no effective therapies for metastatic UM. Hypermethylated in cancer 1 (HIC1) is frequently deleted or epigenetically silenced in various human cancers. However, the role and mechanism of HIC1 in UM is still unclear. In this study, we found that HIC1 acted as a tumor suppressor and that its expression was downregulated in UM. Functional studies demonstrated that ectopic expression of HIC1 in UM cells inhibited cell proliferation and invasion. Moreover, through long non-coding RNA (lncRNA) microarray and real-time PCR, we found that expression of lncRNA-numb was activated by HIC1 in UM. The results provide evidence that lncRNA-numb is a newly proposed tumor suppressor that is involved in HIC1-induced phenotypes. Taken together, our studies of UM reveal a critical role of HIC1 in the regulation of tumorigenesis, at least partly through its downstream target, lncRNA-numb, and provide a potential therapeutic target for UM.

Ishida Y, Takahashi Y, Takahashi E, et al.
Steatocystoma simplex of the lacrimal caruncle: a case report.
BMC Ophthalmol. 2016; 16(1):183 [PubMed] Article available free on PMC after 01/03/2018 Related Publications
BACKGROUND: This is the third reported case of a steatocystoma simplex in the lacrimal caruncle.
CASE PRESENTATION: A 60-year-old male presented with a history of a slowly progressing mass in the right lacrimal caruncle since several years before his initial visit. At the first examination, a yellowish, relatively smooth surface mass was observed in the right lacrimal caruncle. The caruncular mass was completely removed under local anesthesia. The pathological findings of this mass were consistent with a steatocystoma. At the 6-month follow-up, there was no sign of recurrence or development of the steatocystoma or any other masses.
CONCLUSION: Although steatocystoma simplex rarely occurs in the lacrimal caruncle, it needs to be considered as a possible diagnosis for patients with a mass lesion in the caruncle.

Gao J, Zeng J, Guo B, et al.
Clinical presentation and treatment outcome of retinoblastoma in children of South Western China.
Medicine (Baltimore). 2016; 95(42):e5204 [PubMed] Article available free on PMC after 01/03/2018 Related Publications
To study the clinical presentation and treatment outcome among children in South Western China with retinoblastoma (RB) and to determine factors predictive of poor outcome.A retrospective review of children diagnosed with RB from 2006 to 2015 at West China Hospital was undertaken. Demographic and clinical characteristics and treatment outcomes were studied.A total of 253 patients (unilateral 80.2%, bilateral 19.8%) were studied. Twenty six patients (10.3%) were from minority ethnic groups of China. The median onset age was 21 months. Leukocoria was the most common presenting sign (71%). Tumors were intraocular in 91.3% cases, extraocular in 8.7% cases. Extraocular RB patients had a longer median lag period than intraocular patients (9 months vs 2 months, P < 0.0001). In the intraocular group, 89.5% were advanced group D or E diseases. Enucleation was the major treatment for intraocular RB. However, over 10 years, the enucleation rate decreased constantly while more patients received chemotherapy. The Kaplan-Meier survival probability was 87.8%, 81.4%, and 74.8% at 3 years, 5 years, and 10 years, respectively. On Cox regression analysis, extraocular RB (P = 0.0008) and treatment abandonment (P < 0.0001) were associated with poor outcome; bilateral RB (P = 0.0116) and advanced pathological grade pT4 (P = 0.0011) were associated with poor outcome of intraocular RB.Most RB patients from South Western China were diagnosed at advanced clinical stage. Delayed presentation is related to extraocular RB which is a risk factor for poor outcome. Chemotherapy increased the eye salvage but had no effects to overall survival. Education for parents and general physicians for the early signs of RB (such as leukocoria), therapeutic strategy and treatment outcomes of RB may promote early diagnosis, improve the compliance, and outcome.

Tata A, Cohen-Inbar O, Sheehan JP
Treatment of orbital solitary fibrous tumour with gamma knife radiosurgery and systematic review of literature.
BMJ Case Rep. 2016; 2016 [PubMed] Related Publications
Solitary fibrous tumours (SFTs) are relatively rare tumours that were originally thought to arise from the pleura but have thereafter been demonstrated as occurring anywhere in the body. These tumours are generally considered benign but have frequently been noted for recurrence and local invasion. Furthermore, their indolence is controversial due to increasing evidence implicating the existence of a spectrum that includes hemangiopericytoma (HPC). Stereotactic radiosurgery (SRS) has been well characterised in the treatment of benign, malignant and vascular conditions, and it appears to be a reasonable option as adjuvant or recurrent treatment for intracranial SFTs. We present in this case the first complete description of an SFT of the orbit treated by SRS as well as a systematic review of available English literature for intracranial SFTs treated by SRS. We report effective local tumour control in our case and conclude that SRS is a reasonable treatment option for recurrent SFT.

Tuncer S, Sencer S, Kebudi R, et al.
Superselective intra-arterial chemotherapy in the primary management of advanced intra-ocular retinoblastoma: first 4-year experience from a single institution in Turkey.
Acta Ophthalmol. 2016; 94(7):e644-e651 [PubMed] Related Publications
PURPOSE: To report our 4-year experience in Turkey, with advanced intra-ocular retinoblastoma managed primarily with intra-arterial chemotherapy (IAC).
METHODS: From October 2011 to September 2015, 26 group D eyes of 24 treatment-naïve retinoblastoma patients managed primarily with IAC were evaluated in this prospective study.
RESULTS: Of 76 procedures, ophthalmic artery cannulation failed in two patients with unilateral involvement. In the remaining 22 patients (24 eyes), the mean age at diagnosis was 18 months (range, 6-55 months). Each eye received a mean of 3 IAC sessions/eye (range, 2-5 sessions). After a median follow-up of 29 months (range, 6-55 months), complete regression of the main tumour was achieved in 23 of 24 eyes. One eye with partial regression required enucleation due to ciliary body involvement by the tumour. Overall, 16 eyes (66.6%) were salvaged with primary IAC with or without additional local treatments, and eight (33.3%) required enucleation. The main IAC-related periocular complications included transient eyelid oedema (n = 13), ptosis (n = 6) and forehead hyperpigmentation (n = 3), each resolving in 2 weeks to 4 months. Intra-ocular complications included chorioretinal atrophy (n = 9), newly noted retinal detachment (n = 5) and vitreous haemorrhage (n = 1). Kaplan-Meier eye estimates of enucleation-free survival rates were 83.3% (95% CI, 68.4-98.1%), 69.1% (95% CI, 49.8-88.3%) and 62.9 (95% CI, 41.9-83.8%) at 6 months, 1 and 2 years, respectively, and stable thereafter.
CONCLUSION: Our first 4-year experience in Turkey showed that enucleation or external-beam radiotherapy could be avoided in two-thirds of eyes with advanced intra-ocular retinoblastoma managed primarily with IAC.

Chang Y, Wei WB, Shi JT, et al.
Clinical and histopathological features of adenomas of the ciliary pigment epithelium.
Acta Ophthalmol. 2016; 94(7):e637-e643 [PubMed] Related Publications
PURPOSE: Adenomas of the ciliary pigment epithelium (CPE) are rare benign tumours which have mainly to be differentiated from malignant ciliary body melanomas. Here we report on a consecutive series of patients with CPE adenomas and describe their characteristics.
METHODS: The retrospective hospital-based case series study included all patients who were consecutively operated for CPE adenomas.
RESULTS: Of the 110 patients treated for ciliary body tumours, five patients (4.5%) had a CPE adenoma. Mean age was 59.0 ± 9.9 years (range: 46-72 years). Mean tumour apical thickness was 6.6 ± 1.7 mm. Tumour colour was mostly homogenously brown to black, and the tumour surface was smooth. The tumour masses pushed the iris tissue forward without infiltrating iris or anterior chamber angle. Sonography revealed an irregular echogram with sharp lesion borders and signs of blood flow in Color Doppler flow imaging. Ultrasonographic biomicroscopy demonstrated medium-low internal reflectivity and acoustic attenuation. In magnetic resonance imaging (MRI), the tumours as compared to brain were hyperintense on T1-weighted images and hypointense on T2-weighted images. Tumour tissue consisted of cords and nests of pigment epithelium cells separated by septa of vascularized fibrous connective tissue, leading to a pseudo-glandular appearance. The melanin granules in the cytoplasm were large and mostly spherical in shape. In four patients, the tumours were hyperpigmented. Tumour cells were large with round or oval nuclei and clearly detectable nucleoli.
CONCLUSIONS: These clinical characteristics of CPE adenomas, such as homogenous dark brown colour, smooth surface, iris dislocation and anterior chamber angle narrowing but no iris infiltration, segmental cataract, pigment dispersion, and, as compared to brain tissue, hypointensity and, as compared to extraocular muscles or lacrimal gland, hyperintensity on T2-weighted MRI images, may be helpful for the differentiation from ciliary body malignant melanomas.

Lemaître S, Lévy-Gabriel C, Desjardins L, et al.
Choroidal melanoma and pregnancy.
Acta Ophthalmol. 2016; 94(7):e652-e660 [PubMed] Related Publications
PURPOSE: Choroidal melanoma is a rare tumour in adults. The mean age at diagnosis is 60, but the tumour can affect women of childbearing age. A negative effect of pregnancy on patients' survival has not been formally excluded to date. The aim of the present study is to evaluate the effect of pregnancy on the prognosis of choroidal melanoma.
METHODS: We conducted a single-centre retrospective study at the Institut Curie on the population of women of childbearing age who were diagnosed with choroidal melanoma between June 1980 and October 2013. We took a particular interest in the prognosis of those who were pregnant at the time of diagnosis and in the prognosis of those who chose to get pregnant after the treatment.
RESULTS: We found 27 pregnant patients at the time of diagnosis and 13 patients who became pregnant after the treatment. There was no difference in the survival between these two groups of patients and the group of other women of childbearing age diagnosed with choroidal melanoma (p = 0.52). There was also no difference in metastasis-free survival (p = 0.91). Most women were able to carry their pregnancies to term (67% had a term pregnancy, and only 7% had an abortion). For women who were pregnant when they were diagnosed with choroidal melanoma, a conservative treatment was chosen in 85% of cases, and proton beam therapy was the most widely used treatment.
CONCLUSIONS: Survival in women of childbearing age does not appear to be influenced by pregnancy. We show that proton beam therapy can be used to treat women who are pregnant at the time of choroidal melanoma diagnosis.

Mayerhoefer ME, Karanikas G, Kletter K, et al.
Can Interim 18F-FDG PET or Diffusion-Weighted MRI Predict End-of-Treatment Outcome in FDG-Avid MALT Lymphoma After Rituximab-Based Therapy?: A Preliminary Study in 15 Patients.
Clin Nucl Med. 2016; 41(11):837-843 [PubMed] Related Publications
PURPOSE: To determine whether interim F-FDG PET or interim diffusion-weighted magnetic resonance imaging (DWI) can predict the end-of-treatment (EOT) outcome after immunotherapy in patients with FDG-avid extranodal marginal zone B-cell lymphoma of the mucosa-associated lymphoid tissue (MALT).
MATERIALS AND METHODS: Patients with untreated MALT lymphoma prospectively underwent whole-body F-FDG PET/CT and DWI before treatment (baseline), and after three cycles (interim) of rituximab-based immunotherapy. Maximum and mean standardized uptake values (SUVmax, SUVmean), and minimum and mean apparent diffusion coefficients (ADCmin, ADCmean), were measured for up to three target lesions per patient. Rates of change between baseline and interim examinations (ΔSUVmax, ΔSUVmean, ΔADCmin, and ΔADCmean) were compared, using ANOVAs, between the four end-of-treatment (EOT, after six cycles of immunotherapy) outcomes: complete remission (CR), partial remission (PR), stable disease (SD), or progressive disease (PD).
RESULTS: Fifteen patients with 25 lesions were included. Lesion-based post hoc tests showed significant differences between CR and PR for ΔSUVmax (P < 0.001), ΔSUVmean (P < 0.001), and ΔADCmin (P = 0.044), and between CR and SD for ΔSUVmax (P < 0.001), ΔSUVmean (P < 0.001), ΔADCmin (P = 0.021), and ΔADCmean (P = 0.022). No lesion showed PD at EOT.
CONCLUSIONS: Both quantitative interim F-FDG PET and interim DWI may possibly be useful to predict complete remission at end-of-treatment in MALT lymphoma patients after immunotherapy.

Jiménez-Pérez JC, Yoon MK
Natural Killer T-Cell Lymphoma of the Orbit: An Evidence-Based Approach.
Semin Ophthalmol. 2017; 32(1):116-124 [PubMed] Related Publications
Natural killer T-cell lymphoma (NKTCL) is a rare and aggressive condition with a high mortality rate. It is most commonly seen in the nasal sinuses, generally affecting the orbit by direct extension. Primary orbital NKTCL is even more rare, with only a few published cases with occasional secondary nasal involvement. This malignancy can present as a "masquerade syndrome," delaying proper diagnosis and treatment. Biopsy is required for diagnosis, which shows specific histopathological characteristics. Radiation and chemotherapy are the mainstay of treatment. Newer chemotherapies show improved prognosis.

Costa J, Klijanienko J, Desjardins L, et al.
Fine needle aspiration in intraocular metastasis from pleuropulmonary blastoma. A case report and a review of the literature.
Diagn Cytopathol. 2017; 45(2):156-160 [PubMed] Related Publications
Pleuropulmonary blastoma (PPB) is a rare primitive intrathoracic malignant neoplasm that occurs almost exclusively in children and adolescents. PPB is classified into three types according to the presence of cystic and solid areas. We report a case of PPB with an intraocular metastasis diagnosed by fine needle aspiration (FNA): 3-year-old female was treated for type II PPB by neoadjuvant chemotherapy and surgery. Four years later, she presented with an intraocular lesion. To differentiate between metastasis or other malignancy, a transcleral FNA was performed and showed two cellular populations represented by roundish malignant cells and spindle-shaped cells. The patient was treated with chemotherapy and diode laser ablation. A year later, the patient had enucleation and rare residual cells were found on the histological specimen. Patient remains disease-free 66 months after the last surgical treatment. Diagn. Cytopathol. 2017;45:156-160. © 2016 Wiley Periodicals, Inc.

Komatsu K, Sakai T, Kaburaki T, et al.
Atypical presentation of primary intraocular lymphoma.
BMC Ophthalmol. 2016; 16(1):171 [PubMed] Article available free on PMC after 01/03/2018 Related Publications
BACKGROUND: In 2014, Pang et al. reported three cases with vitelliform submaculopathy as a preceding lesion of primary intraocular lymphoma (PIOL). Here, we report a case with an atypical presentation of PIOL who initially presented with vitelliform submaculopathy, vitreous haze and preripheral retinal focus.
CASE PRESENTATION: A 73-year-old female initially visited another hospital with a chief complaint of acute reduced vision in the right eye. Funduscopic examination of the right eye showed a yellowish retinal lesion at the fovea with vitreous haze and retinal foci scattered in the peripheral region. Spectral-domain optic coherence tomography (SD-OCT) revealed a hyperreflective subretinal debris above the retinal pigment epithelium (RPE) at the fovea, suggesting vitelliform submaculopathy. Vitrectomy was performed to improve visualization of the retinal lesions and for examination of PIOL. Vitreous cytology was class III and cytokine analysis of vitreous fluid showed increased IL-10 and an IL-10/IL-6 ratio >1, suggesting PIOL. Thereafter, there was a sub-RPE infiltration of presumed lymphoma in the nasal retina, and PCR analysis of anterior chamber fluid indicated IgH gene rearrangement, leading to diagnosis of PIOL. Three months later, there was complete disappearance of the vitelliform submacular lesion, with resultant disruption and thinning of the outer retinal layers on SD-OCT images.
CONCLUSIONS: Clinicians should be aware of atypical manifestations of PIOL such as vitelliform submaculopathy and peripheral retinal foci with vitreous haze. The patient's unusual funduscopic changes are findings that have not reported in patients with PIOL.

Charles NC, Petris CK, Kim ET
Aggressive esthesioneuroblastoma with divergent differentiation: A taxonomic dilemma.
Orbit. 2016; 35(6):357-359 [PubMed] Related Publications
The authors describe an esthesioneuroblastoma (olfactory neuroblastoma) that occurred within the nasal cavity and brain in a 31-year-old man. Following excision, the tumor recurred in the left orbit and in mediastinal lymph nodes. Treatment included orbital excision and systemic chemotherapy. Histopathology showed a high-grade neuroepithelial tumor with positive immunohistochemical markers for neuroendocrine and epithelial components, an unusual combination raising issues concerning taxonomy.

Thottian AG, Benson R, Kashyap S, et al.
Orbital medulloepithelioma in an adult patient: Radiation-induced second neoplasia?
Orbit. 2016; 35(6):313-316 [PubMed] Related Publications
Second cancers in survivors of hereditary retinoblastoma occur much more commonly than in the general population. This can be attributed both to the germline mutation of the RB gene and chemoradiation used for treatment of this paediatric cancer. Medulloepithelioma is an uncommon tumor of neuroectodermal origin, seen largely in the paediatric population and rarely reported in adults. Though the incidence of second malignancies is common in retinoblastoma, medulloepithelioma as a second malignancy in retinoblastoma survivors is rare, with only one case reported so far. Herein, we present a case of a 29-year-old patient presenting with medulloepithelioma of the right orbit, arising in the radiation field of previously treated retinoblastoma. This case was also peculiar in that though the origin of tumor was in the eyeball it had a very aggressive clinical course.

van Overdam KA, Missotten T, Kilic E, Spielberg LH
Early surgical treatment of retinal hemangioblastomas.
Acta Ophthalmol. 2017; 95(1):97-102 [PubMed] Related Publications
PURPOSE: To evaluate the clinical course after early surgical treatment with excision of retinal hemangioblastomas (RHs) before development of major complications.
METHODS: Interventional case series of four eyes (four patients) with a peripheral RH that had not yet been treated by laser or cryotherapy prior to surgery. All eyes underwent 23-gauge vitrectomy with lesion excision. One patient underwent ligation of the feeder vessel prior to lesion excision. Best-corrected visual acuity and clinical course were assessed during a follow-up period of at least 4 years.
RESULTS: Four patients (mean age 27.3 years; range 19-32) were included, of whom two had von Hippel-Lindau syndrome. Visual acuity improved in three patients (mean 4.8 lines; range 3-10) and remained stable at 0.0 logMAR in one patient. There were no intraoperative complications. Postoperative complications included transient mild vitreous haemorrhage (n = 2), and local epiretinal membrane formation at the excision location (n = 1). At 4 years postoperatively, there were no long-term complications. There was one case of a new lesion, which was effectively treated with laser.
CONCLUSION: Vitrectomy with RH excision seems to be an effective approach for larger RHs and could be considered an early treatment option in selected cases. Postoperative complications were limited in scope of this case series. Important points to consider during vitrectomy are effective closure of feeder and draining vessels as well as complete removal of posterior hyaloid and epiretinal membranes in order to avoid postoperative vitreous haemorrhage and proliferative vitreoretinopathy.

Akaike S, Kamoi K, Tezuka M, et al.
Ocular manifestation in myeloid/NK cell precursor acute leukemia: a case report. Diagnosed by flow cytometry and PCR from aqueous humor.
Medicine (Baltimore). 2016; 95(38):e4967 [PubMed] Article available free on PMC after 01/03/2018 Related Publications
BACKGROUND: Myeloid/NK cell precursor acute leukemia (MNKL) is a rare type of leukemia, and ocular complications have not previously been reported. We now report a patient with MNKL who developed intraocular infiltrates during follow-up.
METHODS AND RESULTS: A 13-year-old boy diagnosed with MNKL developed left eye pain 3 months after starting treatment. Examination of the left eye revealed a visual acuity of counting fingers at 20 cm, ciliary hyperemia, small corneal keratic precipitates, hypopyon, grade 4 vitreous opacities, and an obscured fundus. The differential diagnosis was between an opportunistic infection associated with immunodeficiency and an intraocular leukemic cell infiltrate. Therefore, a sample of aqueous humor was aspirated. Multiplex PCR/broad-range PCR of the aqueous humor was below detection limits for viruses, bacteria, and fungi. Flow cytometry (FCM) detected NK-related CD56-positive cells, thus leading to a diagnosis of ocular infiltrates due to MNKL. With treatment of the ocular infiltrates by consolidation systemic chemotherapy including intrathecal methotrexate (MTX), there was clearing of the vitreous opacities; and optic disc swelling, retinal hemorrhages, exudates, and protuberant lesions were now seen. With the addition of local radiation therapy to the eye, there was a dramatic treatment response, with regression of the optic disc findings and retinal lesions, and an improved visual acuity of 1.5.
CONCLUSION: We encountered the first case of MNKL in which ocular infiltrates developed during follow-up. Multiplex PCR and FCM of the aqueous humor were useful in rapidly distinguishing leukemic cell infiltrates from an opportunistic infection. This case highlights the usefulness of intrathecal MTX and local radiotherapy in treating ocular infiltrates in patients with MNKL.

Andrade JP, Figueiredo S, Matias J, Almeida AC
Surgical resection of invasive adenoid cystic carcinoma of the lacrimal gland and wound closure using a vertical rectus abdominis myocutaneous free flap.
BMJ Case Rep. 2016; 2016 [PubMed] Related Publications
A 64-year-old man presented with a 3-month history of recurrent conjunctivitis. He was evaluated by an ophthalmologist and submitted to a CT scan that revealed an intraconic mass with invasion of the lateral orbital wall. He was operated, the mass was completely removed (with preservation of the intraorbital structures) and the lateral orbital wall rebuilt. The histopathological analysis revealed an adenoid cystic carcinoma of the lacrimal gland. 4 months later a painful recurrence of the lesion was diagnosed with invasion of the orbital roof and eyelids. After a multidisciplinary discussion and request from the patient, an exenteration of the orbit and removal of the lateral and superior orbital wall and dura mater was performed with the objective of a total resection. The wound and orbit were closed with a vertical rectus abdominis myocutaneous free flap to ensure closure.

Asadi-Amoli F, Nozarian Z, Bonaki HN, et al.
Clinicopathologic Assessment of Ocular Adnexal Lymphoproliferative Lesions at a Tertiary Eye Hospital in Iran.
Asian Pac J Cancer Prev. 2016; 17(8):3727-31 [PubMed] Related Publications
BACKGROUND: The most common type of ocular lymphoma is non-Hodgkin lymphoma (NHL), categorized into two groups: indolent (slow growing) and aggressive (rapid growing). Differentiating benign reactive lymphoid hyperplasia (RLH) from malignant ocular adnexal lymphoma (OAL) is challenging. Histopathology, immunohistochemistry (IHC) and ow cytometry have been used as diagnostic tools in such cases.
MATERIALS AND METHODS: In this retrospective case series, from 2002 to 2013 at Farabi Eye Center, 110 patients with ocular lymphoproliferative disease were enrolled. Prevalence, anatomical locations, mean age at diagnosis and the nal diagnosis of the disease with IHC were assessed. Comparison between previous pathologic diagnoses and results of IHC was made. Immunoglobulin light chains and B-cell and T-cell markers and other immuno-phenotyping markers including CD20, CD3, CD5, CD23, CD10, CYCLIND1 and BCL2 were evaluated to determine the most accurate diagnosis. The lymphomas were categorized based on revised European-American lymphoma (REAL) classi cation.
RESULTS: Mean age±SD (years) of the patients was 55.6 ±19.3 and 61% were male. Patients with follicular lymphoma, large B-cell lymphoma or chronic lymphocytic leukemia/small cell lymphoma (CLL/SLL) tended to be older. Nine patients with previous diagnoses of low grade B-cell lymphoma were re-evaluated by IHC and the new diagnoses were as follows: extranodal marginal zone lymphoma(EMZL) (n=1), SLL(n=1), mantle cell lymphoma (MCL) (n=3), reactive lymphoid hyperplasia RLH (n=2). Two cases were excluded due to poor blocks. Flow cytometry reports in these seven patients revealed SLL with positive CD5 and CD23, MCL with positive CD5 and CyclinD1 and negative CD23, EMZL with negative CD5,CD23 and CD10. One RLH patient was negative for Kappa/Lambda and positive for CD3 and CD20 and the other was positive for all of the light chains, CD3 and CD20. Orbit (49.1%), conjunctiva (16.1%) and lacrimal glands (16.1%) were the most common sites of involvement.
CONCLUSIONS: Accurate pathological classi cation of lesions is crucial to determine proper therapeutic approaches. This can be achieved through precise histologic and IHC analyses by expert pathologists.

Singh U, Malik MA, Goswami S, et al.
Epigenetic regulation of human retinoblastoma.
Tumour Biol. 2016; 37(11):14427-14441 [PubMed] Related Publications
Retinoblastoma is a rare type of eye cancer of the retina that commonly occurs in early childhood and mostly affects the children before the age of 5. It occurs due to the mutations in the retinoblastoma gene (RB1) which inactivates both alleles of the RB1. RB1 was first identified as a tumor suppressor gene, which regulates cell cycle components and associated with retinoblastoma. Previously, genetic alteration was known as the major cause of its occurrence, but later, it is revealed that besides genetic changes, epigenetic changes also play a significant role in the disease. Initiation and progression of retinoblastoma could be due to independent or combined genetic and epigenetic events. Remarkable work has been done in understanding retinoblastoma pathogenesis in terms of genetic alterations, but not much in the context of epigenetic modification. Epigenetic modifications that silence tumor suppressor genes and activate oncogenes include DNA methylation, chromatin remodeling, histone modification and noncoding RNA-mediated gene silencing. Epigenetic changes can lead to altered gene function and transform normal cell into tumor cells. This review focuses on important epigenetic alteration which occurs in retinoblastoma and its current state of knowledge. The critical role of epigenetic regulation in retinoblastoma is now an emerging area, and better understanding of epigenetic changes in retinoblastoma will open the door for future therapy and diagnosis.

Hiwatashi A, Togao O, Yamashita K, et al.
3D turbo field echo with diffusion-sensitized driven-equilibrium preparation technique (DSDE-TFE) versus echo planar imaging in evaluation of diffusivity of retinoblastoma.
Br J Radiol. 2016; 89(1067):20160074 [PubMed] Article available free on PMC after 01/11/2017 Related Publications
OBJECTIVE: Compared with echoplanar (EP) diffusion-weighted imaging (DWI), three-dimensional (3D) turbo field echo with diffusion-sensitized driven-equilibrium (DSDE-TFE) preparation DWI obtains images with higher spatial resolution and less susceptibility artefacts. The purpose of this study was to evaluate the feasibility of DSDE-TFE to visualize retinoblastomas compared with EP imaging.
METHODS: This retrospective study was approved by our institutional review boards. Eight patients with retinoblastomas (five males and three females; age range 0-87 months; median 21 months) were studied. For the DSDE-TFE, motion-probing gradients (MPGs) were conducted at one direction with b-values of 0 and 500 s mm(-2) and a voxel size of 1.5 × 1.5 × 1.5 mm(3). For the EP imaging, MPGs were conducted at three directions with b-values of 0 and 1000 s mm(-2) and a voxel size of 1.4 × 1.8 × 3 mm(3). The apparent diffusion coefficients (ADCs) of each lesion were measured. Statistical analyses were performed with Pearson R and linear correlation coefficients.
RESULTS: Intraocular lesions were clearly visualized on the DSDE-TFE without obvious geometrical distortion, whereas all showed deformity on EP images. On the DSDE-TFE, the ADCs of the lesions ranged from 0.83 × 10(-3) to 2.93 × 10(-3) mm(2) s(-1) (mean ± standard deviation 1.73 ± 0.73 × 10(-3) mm(2) s(-1)). On the EP images, the ADCs ranged from 0.53 × 10(-3) to 2.03 × 10(-3) mm(2) s(-1) (0.93 ± 0.53 × 10(-3) mm(2) s(-1)). There was a significant correlation in ADC measurement between the DSDE-TFE and EP imaging (r = 0.81, p < 0.05).
CONCLUSION: With its insensitivity to field inhomogeneity and high spatial resolution, the 3D DSDE-TFE technique enabled us to assess diffusivity in retinoblastomas. Advances in knowledge: DSDE-TFE could enable us to assess the ADC of retinoblastomas without obvious geometrical distortion.

Francis JH, Levin AM, Abramson DH
Update on Ophthalmic Oncology 2014: Retinoblastoma and Uveal Melanoma.
Asia Pac J Ophthalmol (Phila). 2016 Sep-Oct; 5(5):368-82 [PubMed] Related Publications
PURPOSE: The aim of this study was to review peer-reviewed articles on ophthalmic oncology (specifically retinoblastoma and uveal melanoma) published from January to December 2014.
DESIGN: This study is a literature review.
METHODS: The terms retinoblastoma and uveal melanoma were used in a MEDLINE literature search. Abstracts were studied, and the most relevant articles were selected for inclusion and further in-depth review.
RESULTS: In retinoblastoma, more eyes are being salvaged due to intravitreal melphalan. The year 2014 marks a deepening in our understanding of the biological basis of the disease and the cell of origin. Knowledge on the genetic underpinnings of uveal melanoma has broadened to include other pathways, interactions, and potential therapeutic targets.
CONCLUSIONS: In 2014, there were valuable advancements in our knowledge of retinoblastoma and uveal melanoma. Some of these resulted in improved patient management.

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