Ocular Oncology and Pathology最新文献

{"title":"Acknowledgment to Reviewers","authors":"","doi":"10.1159/000521175","DOIUrl":"https://doi.org/10.1159/000521175","url":null,"abstract":"<br />Ocul Oncol Pathol 2021;7:449","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2021-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138513969","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Post-Brachytherapy Pigment Dispersion in Uveal Melanoma.","authors":"Arpita Maniar,&nbsp;Brian P Marr","doi":"10.1159/000519673","DOIUrl":"https://doi.org/10.1159/000519673","url":null,"abstract":"<p><p>We report delayed intravitreal pigment dispersion following Iodine-125 plaque brachytherapy, without evidence of tumor recurrence, in 4 patients treated for choroidal melanoma. These patients were treated with Iodine-125 plaque brachytherapy, with or without transpupillary thermotherapy, and were followed clinically and using ancillary investigations for signs of tumor recurrence. All 4 patients were noted to develop pigment dispersion - it was detected on the surface of the retina (2 patients), diffusely in the vitreous (1 patient), or both (1 patient). Follow-up ranged from 70 to 343 months (mean 165 months; median 124 months) post-treatment with plaque brachytherapy, throughout which the location and amount of pigment remained grossly unchanged. None of the patients developed tumor recurrence or metastasis. We conclude that post-brachytherapy pigment dispersion is an unusual but known complication in the treatment of uveal melanoma. Close surveillance to rule out tumor recurrence and metastasis may be a reasonable line of management.</p>","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8739932/pdf/oop-0007-0396.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39865609","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ophthalmic Manifestations of Hodgkin Lymphoma: A Review.","authors":"Juan Valenzuela,&nbsp;Jose J Echegaray,&nbsp;Emilio Dodds,&nbsp;Shree K Kurup,&nbsp;Careen Lowder,&nbsp;Sarah L Ondrejka,&nbsp;Arun D Singh","doi":"10.1159/000519032","DOIUrl":"https://doi.org/10.1159/000519032","url":null,"abstract":"<p><strong>Background: </strong>Hodgkin lymphoma (HL) is a hematopoietic neoplasm characterized by cancerous Reed-Sternberg cells. In contrast to ophthalmic manifestations by non-HL that are well recognized, there is paucity of the literature as it relates to ophthalmic manifestation by HL. We performed a comprehensive review of published studies (case reports and small case series) to characterize the ophthalmic manifestations of HL.</p><p><strong>Summary: </strong>Thirty patients were identified with ophthalmic manifestation of HL. Thirteen (43%) were male, and 14 (46%) were female (in 3 cases, sex was not specified). The median age at ophthalmic presentation was 27 years. Diagnosis of HL was made after ophthalmic manifestation in 10 (33%) cases, whereas 11 (36%) cases had a prior diagnosis of HL. Ophthalmic manifestations can be classified into 3 main groups; direct infiltration, inflammatory reaction, and paraneoplastic process. Seven cases had infiltration of the optic nerve. Uveal inflammatory reaction was reported in 21 cases. The presence of intraocular Reed-Sternberg cells had been confirmed in 1 case with granulomatous uveitis. Conjunctival and corneal reaction was seen in 3 cases. HL was in stage 2 or higher, with only 1 case with stage 1A (12 cases HL stage not specified). Seven cases (22%) died of HD, all were diagnosed with advanced lymphoma, and none was treated with chemotherapy.</p><p><strong>Key message: </strong>Ocular involvement in HL is extremely rare. A few cases of histopathologically confirmed optic nerve/tract infiltration are within the spectrum of CNS involvement by HL. Inflammatory uveitis is the most common ophthalmic association of HL. In the presence of prior known diagnosis of HL, restaging should be considered to exclude recurrence. Toxicity or adverse reaction to drugs used to treat HL may also contribute to ophthalmic involvement.</p>","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8739861/pdf/oop-0007-0381.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39865607","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Outcomes following Notched Ruthenium-106 Plaque Brachytherapy for Juxtapapillary Choroidal Melanomas.","authors":"Manvi Manu Sobti,&nbsp;Magdalena Edington,&nbsp;Julie Connolly,&nbsp;David J McLernon,&nbsp;Stefano Schipani,&nbsp;Diana Ritchie,&nbsp;Paul Cauchi,&nbsp;Vikas Chadha","doi":"10.1159/000518975","DOIUrl":"https://doi.org/10.1159/000518975","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to evaluate the outcomes of juxtapapillary choroidal melanomas treated with notched ruthenium-106 plaques.</p><p><strong>Methods: </strong>Juxtapapillary choroidal melanomas (tumours within 2 disc diameters from the optic disc) treated with notched ruthenium-106 plaques (Eckert & Ziegler, BEBIG, Berlin, Germany) at the Scottish Ocular Oncology Service between 2009 and 2015 were retrospectively reviewed. The data were analysed with respect to various outcome measures including recurrence, complications, vision, and eye preservation.</p><p><strong>Results: </strong>We reviewed 40 patients with a median tumour diameter of 8.4 mm (range 5-17 mm) and a median thickness of 2.5 mm (range 1.1-6 mm). AJCC tumour category distribution was 62.5% T1, 32.5% T2, and 5% T3 tumours. The mean presenting vision was 0.3 logMAR, and the mean final vision was 0.7 logMAR, with 62.5% retaining >1.0 logMAR and 50% retaining >0.3 logMAR at the final follow-up. The median follow-up was 51 months (14-100 months). Over the maximum follow-up time, 13 tumours (32.5%) recurred. Six of these were treated with salvage proton beam therapy (PBT), 2 with transpupillary thermotherapy followed by PBT, and 5 with enucleation. The final eye retention rate was 87.5%. Complications included maculopathy (10%), retinal detachment (5%), neovascular glaucoma (2.5%), and diplopia (2.5%). The observed risk of recurrence over 5 years was 31% (95% CI: 14.1%, 47.8%), and the risk of enucleation over 5 years was 11.5% (95% CI: 0.9%, 21.8%).</p><p><strong>Conclusion: </strong>Juxtapapillary choroidal melanomas treated with notched ruthenium plaques have a high recurrence rate and frequently need salvage treatment with PBT for tumour control. This has led to a change in our practice toward offering PBT as the first-line treatment for these patients.</p>","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8739645/pdf/oop-0007-0411.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39865611","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Choroidal Effusion Mimicking Uveal Melanoma: A Novel Presentation of Idiopathic Systemic Capillary Leak Syndrome.","authors":"Beatrice Y Brewington,&nbsp;Srinivas Kondapalli,&nbsp;Shaili S Kothari,&nbsp;Samir V Parikh,&nbsp;Colleen M Cebulla","doi":"10.1159/000512765","DOIUrl":"https://doi.org/10.1159/000512765","url":null,"abstract":"<p><strong>Background: </strong>Idiopathic systemic capillary leak syndrome (ISCLS, also known as Clarkson's disease) is a rare medical condition characterized by episodes of capillary endothelial cell dysfunction with leakage of fluid into the interstitial space resulting in severe hypotension, hemoconcentration, hypoalbuminemia, and generalized edema. Each episode can result in multiorgan failure due to systemic hypoperfusion.</p><p><strong>Case presentation: </strong>We report a case of uveal effusion, mimicking uveal melanoma, associated with ISCLS following viral infection. A 74-year-old white male was evaluated in our ocular tumor clinic for a large intraocular mass in the right eye concerning for choroidal melanoma. We completed a review of the literature and list clinical recommendations for these cases. ISCLS, although rare, was a significant diagnostic consideration in this patient. Due to the high mortality rate of this condition, accurate diagnosis and prompt treatment was critical. We hypothesize that the mechanism of choroidal effusion development was due to reduced oncotic pressure from rapid decrease in serum albumin. Increased permeability of choroidal capillaries may be an additional mechanism leading to uveal effusion.</p><p><strong>Conclusion: </strong>With treatment, the patient had complete resolution of his choroidal effusion with no recurrence of his ISCLS. Further research should be considered on the role of viral infections in the pathogenesis of ISCLS.</p>","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8738905/pdf/oop-0007-0390.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39865608","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Uveal Melanoma and Paraneoplastic Perivascular Dermal Melanocytic Proliferation in the Setting of Bilateral Diffuse Uveal Melanocytic Proliferation: The Potential Role of the Hepatocyte Growth Factor/c-Met Axis in Their Pathogenesis.","authors":"Hardeep Singh Mudhar,&nbsp;Bashar M Bata,&nbsp;Hibba Quhill,&nbsp;Tatyana Milman,&nbsp;Sachin M Salvi","doi":"10.1159/000519177","DOIUrl":"https://doi.org/10.1159/000519177","url":null,"abstract":"<p><p>Two patients, with non-small cell lung carcinoma treated with pembrolizumab, developed bilateral diffuse uveal melanocytic proliferation (BDUMP) with interesting histopathological features. The first patient developed a right ciliary body mass concurrently with BDUMP. The globe was enucleated. The ciliary body mass was a mitotically active epithelioid uveal melanoma, invading the trabecular meshwork and peripheral corneal stroma, with over 90% of the cells expressing Cyclin D1 protein. The melanoma showed no chromosome 3 or 8 changes. The background uvea showed diffuse, bland spindle cell melanocytic proliferation with much lower Cyclin D1 expression (around 10%). In the choroid, this population was punctuated by islands of pigmented epithelioid cells, some of which were necrotic. All these islands expressed a high level of Cyclin D1, and some islands expressed nuclear preferentially expressed antigen in melanoma (PRAME). The ciliary body mass, epithelioid cell islands, and the BDUMP all expressed c-Met (the receptor for hepatocyte growth factor [HGF]). The features were those of ciliary body melanoma and choroidal melanoma \"tumorlets,\" developing on a background of BDUMP. The second patient developed bilateral periocular skin pigmentation following a diagnosis of BDUMP, which when biopsied, showed dermal islands of paraneoplastic perivascular melanocytic cell proliferation. These cells also expressed c-Met protein. These observations implicate the HGF/c-Met axis in the pathogenesis of BDUMP, the uveal melanomas in the ciliary body and choroid in the first patient and the paraneoplastic dermal melanocytic proliferation in the second patient.</p>","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8740289/pdf/oop-0007-0418.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39865612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Front & Back Matter","authors":"Arun D. Singh, H. Grossniklaus","doi":"10.1159/000521556","DOIUrl":"https://doi.org/10.1159/000521556","url":null,"abstract":"","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88340092","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Contents Vol. 7, 2021","authors":"","doi":"10.1159/000521176","DOIUrl":"https://doi.org/10.1159/000521176","url":null,"abstract":"","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85069543","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analytical Validation and Performance of a 7-Gene Next-Generation Sequencing Panel in Uveal Melanoma.","authors":"Katherina M Alsina, Lauren M Sholl, Kyle R Covington, Suzzette M Arnal, Michael A Durante, Christina L Decatur, John F Stone, Kristen M Oelschlager, J William Harbour, Federico A Monzon, Robert W Cook, Sherri Borman","doi":"10.1159/000518829","DOIUrl":"10.1159/000518829","url":null,"abstract":"<p><strong>Introduction: </strong>Gene expression profiling (GEP) is widely used for prognostication in patients with uveal melanoma (UM). Because biopsy tissue is limited, it is critical to obtain as much genomic information as possible from each sample. Combined application of both GEP and next-generation sequencing (NGS) allows for analysis of RNA and DNA from a single biopsy sample, offers additional prognostic information, and can potentially inform therapy selection. This study evaluated the analytical performance of a targeted custom NGS panel for mutational profiling of 7 genes commonly mutated in UM.</p><p><strong>Methods: </strong>One hundred five primary UM tumors were analyzed, including 37 formalin-fixed paraffin-embedded (FFPE) and 68 fine-needle aspiration biopsy specimens. Sequencing was performed on the Ion GeneStudio S5 platform to an average read depth of >500X per region of interest.</p><p><strong>Results: </strong>The 7-gene panel achieved a positive percent agreement of 100% for detection of both single-nucleotide variants and insertions/deletions, with a technical positive predictive value of 98.8% and 100%, respectively. Intra-assay and inter-assay concordance studies confirmed the assay's reproducibility and repeatability.</p><p><strong>Discussion/conclusion: </strong>The 7-gene panel is a robust, highly accurate NGS test that can be successfully performed, along with GEP, from a single small-gauge needle biopsy sample or FFPE specimen.</p>","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8739387/pdf/oop-0007-0428.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39952180","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Orbital Cellular Epithelioid Hemangioma.","authors":"Hillary C Stiefel,&nbsp;John D Ng,&nbsp;David J Wilson,&nbsp;Daniel M Albert","doi":"10.1159/000518614","DOIUrl":"https://doi.org/10.1159/000518614","url":null,"abstract":"Dear Editor, This letter is a follow-up to an article published in the Journal of Ocular Oncology and Pathology in 2019 entitled “Orbital Cellular Epithelioid Hemangioma” [1]. The publication detailed a case of a vascular orbital lesion in a 58-year-old woman in whom the distinction between a benign cellular epithelioid hemangioma (EH) and a malignant epithelioid hemangioendothelioma (EHE) was difficult to make on histologic features alone. The case was reviewed by Christopher Fletcher, MD, at Brigham and Women’s Hospital, who utilized FOSB and CAMTA1 immunostains to detect cytogenetic rearrangements that supplemented the histopathologic examination in diagnosis. The consensus diagnosis of the lesion was benign cellular EH based on the presence of multifocal nuclear positivity for FOSB and negativity for CAMTA1 as both of these findings have been considered reassuring features that support a diagnosis of benign cellular EH and argue against a diagnosis of malignant EHE [2]. A recent re-evaluation of this case by Dr. Fletcher included an immunostain for TFE3 which showed weak positivity, followed by FISH that revealed a TFE3 gene rearrangement. As such, this lesion is better interpreted as an example of the rare subset of EHE characterized by YAP1-TFE3 gene fusion [3]. Since the time the original articles demonstrating FOSC gene rearrangements in EHs with associated overexpression of FOSB protein by IHC were published, it has been shown that FOSB and FOS may be expressed in a variety of other vascular lesions in the absence of gene rearrangement. Therefore, the positive IHC result in this case was false positive. The treating clinician and patient have been informed of the reclassification of this tumor as a malignant EHE, rather than a benign orbital cellular EH. These lesions are thought to account for approximately 5% of all EHE, and it is now recognized that they fortunately have a much better prognosis than conventional EHE [4]. The patient in this case is alive, with no known recurrence or metastasis.","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8740085/pdf/oop-0007-0447.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39865614","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}