Ocular Oncology and Pathology最新文献

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Two Cases of Angiosarcoma with Persistent Unilateral Eyelid Swelling. 血管肉瘤伴持续性单侧眼睑肿胀2例。
IF 1
Ocular Oncology and Pathology Pub Date : 2022-02-01 DOI: 10.1159/000520293
Shinzo Sakisaka, Mika Tanabe, Shuhei Imayama, Nahoko Zeze, Kanako Yamana, Hiroshi Yoshikawa, Koh-Hei Sonoda
{"title":"Two Cases of Angiosarcoma with Persistent Unilateral Eyelid Swelling.","authors":"Shinzo Sakisaka,&nbsp;Mika Tanabe,&nbsp;Shuhei Imayama,&nbsp;Nahoko Zeze,&nbsp;Kanako Yamana,&nbsp;Hiroshi Yoshikawa,&nbsp;Koh-Hei Sonoda","doi":"10.1159/000520293","DOIUrl":"https://doi.org/10.1159/000520293","url":null,"abstract":"<p><p>Angiosarcoma is a widely known neoplasm with one of the poorest prognoses; however, such cases are rarely observed by the ophthalmologists in clinical practice. The tumor commonly develops on the face and scalp and may cause eyelid swelling. We present 2 such cases. Case 1 was an 82-year-old woman who presented with indulated swelling of the right eyelid that extended to the upper forehead. Biopsy revealed a poorly circumscribed tumor infiltrated throughout the dermis and fat tissue, exhibiting both angiomatous and solid patterns. Immunohistochemistry showed CD31(-) and D2-40/podoplanin(+), suggesting angiosarcoma. The patient had multiple lung metastases and died 14 months later. Case 2 was a 77-year-old man who presented with swelling of the left eyelid, and erythema on the left temporal skin developed ulcerated nodules. Biopsy showed proliferated tumor cells in a sheet form, extensively throughout the dermis. Angiosarcoma was preferred based on immunohistochemistry: CD31(+), CD34(+), and D2-40(-). The patient was treated with electron beam therapy and chemotherapy and died after 13 months. It would be difficult for an ophthalmologist to suspect such a rare neoplasm only from swelling of the eyelids. However, angiosarcoma should be considered if the swelling spreads steadily from a head rash with a nodule or ulcer nearby.</p>","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":"8 1","pages":"16-21"},"PeriodicalIF":1.0,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8914193/pdf/oop-0008-0016.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10596004","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}
引用次数: 0
BAP1 Immunostain Status in Intraocular Biopsy Specimens for Uveal Melanoma Highly Correlates with Other Prognostic Markers. 葡萄膜黑色素瘤眼内活检标本BAP1免疫染色状态与其他预后标志物高度相关
IF 1
Ocular Oncology and Pathology Pub Date : 2022-02-01 DOI: 10.1159/000515858
Cristiane M Ida, Jose Pulido, Patricia T Greipp, Joaquin J Garcia, Timothy W Olsen, Lauren Dalvin, Diva Regina Salomão
{"title":"BAP1 Immunostain Status in Intraocular Biopsy Specimens for Uveal Melanoma Highly Correlates with Other Prognostic Markers.","authors":"Cristiane M Ida,&nbsp;Jose Pulido,&nbsp;Patricia T Greipp,&nbsp;Joaquin J Garcia,&nbsp;Timothy W Olsen,&nbsp;Lauren Dalvin,&nbsp;Diva Regina Salomão","doi":"10.1159/000515858","DOIUrl":"https://doi.org/10.1159/000515858","url":null,"abstract":"<p><strong>Introduction: </strong>Loss of BAP1 protein expression emerged as a negative prognostic marker in uveal melanoma (UM) and has primarily been studied in enucleations. Intraocular biopsy is frequently performed prior to UM globe-conserving therapy.</p><p><strong>Methods: </strong>We retrospectively evaluated BAP1 immunostaining of UM in 16 biopsies and 8 subsequent enucleations, and results were correlated with the UM-specific gene expression profile (GEP; <i>n</i> = 11), chromosome 3 status by FISH and/or chromosomal microarray (<i>n</i> = 12; 9 also had GEP), and clinical outcomes.</p><p><strong>Results: </strong>UM involved the choroid in 15 (of 16) cases. Biopsy was performed for prognostication (<i>n</i> = 12) or diagnosis (<i>n</i> = 4). Treatment included brachytherapy (<i>n</i> = 13; 5 followed by enucleation) or enucleation only (<i>n</i> = 3). BAP1 nuclear immunostaining was positive in 9, negative in 4, and equivocal in 3 biopsies. For the 3 equivocal biopsies, BAP1 immunostaining was positive in 2 (of 3) subsequent enucleations. BAP1 immunostaining was concordant between all 5 remaining biopsies and enucleations. BAP1-positive biopsies had disomy 3 (<i>n</i> = 6) or 3p loss (<i>n</i> = 1) and class 1 GEP (<i>n</i> = 6). BAP1-negative biopsies had monosomy 3 (<i>n</i> = 3) and class 2 GEP (<i>n</i> = 2). Median follow-up was 62.5 months (range, 17-150). For BAP1-positive UM patients, 8 were alive (7 without metastatic disease) and 3 had died (1 melanoma-related death). Among BAP1-negative UM patients, 2 were alive (1 with metastatic disease) and 3 had melanoma-related deaths.</p><p><strong>Conclusion: </strong>BAP1 immunostaining in biopsies highly correlates with results in subsequent enucleations and with well-established UM prognostic markers, representing a potential additional prognostic tool for UM biopsies.</p>","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":"8 1","pages":"22-29"},"PeriodicalIF":1.0,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8914242/pdf/oop-0008-0022.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10596006","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}
引用次数: 0
Acknowledgment to Reviewers 对审稿人的感谢
IF 1
Ocular Oncology and Pathology Pub Date : 2021-12-17 DOI: 10.1159/000521175
{"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":"19 19-20","pages":""},"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}
引用次数: 0
Post-Brachytherapy Pigment Dispersion in Uveal Melanoma. 近距离治疗后葡萄膜黑色素瘤的色素分散。
IF 1
Ocular Oncology and Pathology Pub Date : 2021-12-01 Epub Date: 2021-09-17 DOI: 10.1159/000519673
Arpita Maniar, Brian P Marr
{"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":"7 6","pages":"396-400"},"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}
引用次数: 0
Ophthalmic Manifestations of Hodgkin Lymphoma: A Review. 霍奇金淋巴瘤的眼部表现:综述。
IF 1
Ocular Oncology and Pathology Pub Date : 2021-12-01 Epub Date: 2021-08-17 DOI: 10.1159/000519032
Juan Valenzuela, Jose J Echegaray, Emilio Dodds, Shree K Kurup, Careen Lowder, Sarah L Ondrejka, Arun D Singh
{"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":"7 6","pages":"381-389"},"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}
引用次数: 3
Outcomes following Notched Ruthenium-106 Plaque Brachytherapy for Juxtapapillary Choroidal Melanomas. 缺口钌-106斑块近距离治疗乳头旁脉络膜黑色素瘤的疗效。
IF 1
Ocular Oncology and Pathology Pub Date : 2021-12-01 Epub Date: 2021-08-23 DOI: 10.1159/000518975
Manvi Manu Sobti, Magdalena Edington, Julie Connolly, David J McLernon, Stefano Schipani, Diana Ritchie, Paul Cauchi, Vikas Chadha
{"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":"7 6","pages":"411-417"},"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}
引用次数: 0
Choroidal Effusion Mimicking Uveal Melanoma: A Novel Presentation of Idiopathic Systemic Capillary Leak Syndrome. 脉络膜积液模拟葡萄膜黑色素瘤:特发性系统性毛细血管渗漏综合征的新表现。
IF 1
Ocular Oncology and Pathology Pub Date : 2021-12-01 Epub Date: 2021-09-21 DOI: 10.1159/000512765
Beatrice Y Brewington, Srinivas Kondapalli, Shaili S Kothari, Samir V Parikh, Colleen M Cebulla
{"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":"7 6","pages":"390-395"},"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}
引用次数: 3
Front & Back Matter 正面和背面
IF 1
Ocular Oncology and Pathology Pub Date : 2021-12-01 DOI: 10.1159/000521556
Arun D. Singh, H. Grossniklaus
{"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":"33 1","pages":""},"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}
引用次数: 0
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. 在双侧弥漫性葡萄膜黑色素细胞增殖的背景下,葡萄膜黑色素瘤和副肿瘤血管周围皮肤黑色素细胞增殖:肝细胞生长因子/c-Met轴在其发病机制中的潜在作用。
IF 1
Ocular Oncology and Pathology Pub Date : 2021-12-01 Epub Date: 2021-08-26 DOI: 10.1159/000519177
Hardeep Singh Mudhar, Bashar M Bata, Hibba Quhill, Tatyana Milman, Sachin M Salvi
{"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":"7 6","pages":"418-427"},"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}
引用次数: 2
Analytical Validation and Performance of a 7-Gene Next-Generation Sequencing Panel in Uveal Melanoma. 葡萄膜黑色素瘤中 7 基因下一代测序面板的分析验证和性能。
IF 1
Ocular Oncology and Pathology Pub Date : 2021-12-01 Epub Date: 2021-08-04 DOI: 10.1159/000518829
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
{"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":"7 6","pages":"428-436"},"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}
引用次数: 0
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