Ocular Oncology and Pathology最新文献

{"title":"Impact of Adjuvant Ocular Interventions on the Quality of Life of Patients with Uveal Melanoma after Proton Beam Therapy.","authors":"Johannes Gollrad,&nbsp;Christopher Rabsahl,&nbsp;Antonia M Joussen,&nbsp;Andrea Stroux,&nbsp;Volker Budach,&nbsp;Dirk Böhmer,&nbsp;Alexander Böker","doi":"10.1159/000520524","DOIUrl":"https://doi.org/10.1159/000520524","url":null,"abstract":"<p><strong>Introduction: </strong>Proton beam therapy is an established primary treatment for patients with nonmetastasized uveal melanoma. Adjuvant local interventions, like intravitreal injections or surgery, were shown to improve long-term eye preservation; however, their impact on the patient's quality of life (QOL) remains unknown.</p><p><strong>Methods: </strong>In a post-radiotherapeutic follow-up, we prospectively collected data on QOL, visual acuity, and interventional adjuvant procedures. QOL was measured with QOL-C30 questionnaire and quality of life questionnaire OPT30 at baseline, and at 3 and 12 months after proton therapy. Patients were grouped by the type of adjuvant treatment. The impact on QOL was analyzed by comparing changes in the mean score values and visual acuity for different interventional subgroups, with generalized linear mixed models and Wilcoxon signed-rank tests.</p><p><strong>Results: </strong>We received 108 (100%) and 95 (88.0%) questionnaires at 3 and 12 months post-therapy, respectively. Adjuvant interventions included observation (<i>n</i> = 61, 56.5%), intravitreal injections (<i>n</i> = 17, 15.7%), and an intraocular surgical procedure (<i>n</i> = 30, 27.8%). In the latter group, several QOL items significantly declined after the 3-month adjuvant interval, but they partially recovered at the 12-month follow-up. In all adjuvant-intervention groups, global QOL scores returned to baseline levels at 12 months.</p><p><strong>Conclusion: </strong>Posttreatment adjuvant interventions had no long-lasting effects on QOL in patients with uveal melanoma.</p>","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9218619/pdf/oop-0008-0110.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9560887","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":"P. N. Scholl, Arun D. Singh, H. Grossniklaus","doi":"10.1159/000525427","DOIUrl":"https://doi.org/10.1159/000525427","url":null,"abstract":"","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81492291","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":"Preferentially Expressed Antigen in Melanoma Immunohistochemistry Labeling in Uveal Melanomas.","authors":"Saman S Ahmadian,&nbsp;Ian J Dryden,&nbsp;Andrea Naranjo,&nbsp;Angus Toland,&nbsp;Romain A Cayrol,&nbsp;Donald E Born,&nbsp;Peter S Egbert,&nbsp;Ryanne A Brown,&nbsp;Prithvi Mruthyunjaya,&nbsp;Jonathan H Lin","doi":"10.1159/000524051","DOIUrl":"https://doi.org/10.1159/000524051","url":null,"abstract":"<p><strong>Introduction: </strong>Uveal melanoma (UM) is the most common primary intraocular malignancy in adults, and despite treatment of the primary tumor, approximately 15%-50% of patients will develop metastatic disease. Based on gene expression profiling (GEPs), UM can be categorized as Class 1A (low metastatic risk), Class 1B (intermediate metastatic risk), or Class 2 (high metastatic risk). PReferentially expressed Antigen in MElanoma (PRAME) status is an independent prognostic UM biomarker and a potential target for immunotherapy in metastatic UM. PRAME expression status can be detected in tumors using reverse-transcription polymerase chain reaction (RT-PCR). More recently, immunohistochemistry (IHC) has been developed to detect PRAME protein expression. Here, we employed both techniques to evaluate PRAME expression in 18 UM enucleations.</p><p><strong>Methods: </strong>Tumor material from the 18 UM patients who underwent enucleation was collected by fine-needle aspiration before or during enucleation and sent for GEP and PRAME analysis by RT-PCR. Histologic sections from these patients were stained with an anti-PRAME monoclonal antibody. We collected patient demographics and tumor characteristics and included this with our analysis of GEP class, PRAME status by RT-PCR, and PRAME status by IHC. PRAME IHC and RT-PCR results were compared.</p><p><strong>Results: </strong>Twelve males (12/18) and 6 females (6/18) with an average age of 60.6 years underwent enucleation for UM. TNM staging of the UM diagnosed Stage I in 2 patients (2/18), Stage II in 7 patients (7/18), Stage III in 8 patients (8/18), and Stage IV in 1 (1/18). GEP was Class 1A in 6 tumors (6/18), Class 1B in 6 tumors (6/18), and Class 2 in 6 tumors (6/18). PRAME IHC showed diffusely positive labeling of all UM cells in 2/18 enucleations; negative IHC labeling of UM cells in 9/18 enucleations; and IHC labeling of subsets of UM cells in 7/18 enucleations. Eleven of the 17 UMs tested for PRAME by both RT-PCR and IHC had consistent PRAME results. In the remaining 6/17 cases tested by both modalities, PRAME results were discordant between RT-PCR and IHC.</p><p><strong>Conclusions: </strong>We find that PRAME IHC distinguishes PRAME-positive and PRAME-negative UM tumor cells. Interestingly, IHC reveals focal PRAME expression in subsets of tumor cells consistent with tumor heterogeneity. PRAME RT-PCR and IHC provide concordant results in most of our cases. We suggest that discordance in PRAME results could arise from spatial or temporal variation in PRAME expression between tumor cells. Further studies are required to determine the prognostic implications of PRAME IHC in UM.</p>","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9218614/pdf/oop-0008-0133.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9560886","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":"Adjunctive Treatment with Interferon Alpha 2b in Conjunctival Melanoma.","authors":"Valentín Huerva, Pau Cid-Bertomeu, Ramón Espinet, Luisa M Canto","doi":"10.1159/000522195","DOIUrl":"10.1159/000522195","url":null,"abstract":"<p><strong>Purpose: </strong>The aim of the study was to demonstrate the clinical outcomes after resection of conjunctival melanoma (CM) followed by topical interferon (IFN) alpha 2b after a long follow-up.</p><p><strong>Methods: </strong>Two consecutive CM patients were treated using tumor excision followed by topical IFN alpha 2b (1,000,000 UI/mL) four times a day for 12 weeks. The second case presented positivity due to the presence of tumor cells in the lower margin of the resection. TNM staging was T1c, N0b, M0, and T1b in the first case and T1b, N0b, M0 in the second case. Follow-up was 72 and 71 months, respectively.</p><p><strong>Results: </strong>No side effects were observable after the administration of topical IFN alpha 2b. After extensive evaluation and imaging with computed tomography, no regrowth or distant metastasis was noticed during the follow-up period in both cases.</p><p><strong>Conclusions: </strong>IFN alpha 2b could be used as a co-adjuvant treatment after CM resection, in an attempt to reduce the possibility of recurrences.</p>","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9218643/pdf/oop-0008-0088.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9560890","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":"Correlation between Frozen Section and Permanent Histopathologic Diagnoses in Adult Orbital Lesions.","authors":"Sarah E Eichinger,&nbsp;Hans B Heymann,&nbsp;Michael Mbagwu,&nbsp;Alexander Knezevic,&nbsp;Paul J Bryar","doi":"10.1159/000521075","DOIUrl":"https://doi.org/10.1159/000521075","url":null,"abstract":"<p><strong>Introduction: </strong>When indicated, intraoperative use of frozen sections may assist in determining the surgical course or appropriate processing of surgical specimens. Knowing the accuracy of a preliminary frozen section diagnosis is important. The purpose of this study is to determine the rate of correlation between frozen and permanent histopathologic diagnoses of adult orbital lesions, analyze characteristics of discordant cases, and examine the effects of discordance on surgical decision-making.</p><p><strong>Methods: </strong>A 15-year retrospective chart review was conducted at a tertiary care center of all adult patients with orbital lesions for which frozen section and corresponding permanent section tissue diagnoses were obtained.</p><p><strong>Results: </strong>Sixty-five orbital surgeries were performed with a total of 89 frozen sections sampled. In 63 surgeries (96.9%), at least 1 frozen section diagnosis matched the final permanent section diagnosis. Overall, frozen section diagnosis corresponded with permanent section diagnosis in 81 of 89 (91.0%) specimens. Of the 8 (9.0%) specimens from 5 unique patients that did not correlate, the final diagnoses on permanent sections were amyloidosis (5), margin-positive infiltrating breast carcinoma (2), and lymphoid hyperplasia (1). The discrepancy between frozen and permanent sections did not alter care in any patient.</p><p><strong>Conclusion: </strong>Frozen section diagnoses correlate with permanent histopathologic tissue diagnosis in adult orbital biopsies in greater than 90% of cases. Among non-correlated specimens, amyloidosis was the most common diagnosis. Although rare, orbital amyloid disorders may be considered in the differential diagnosis of cases of orbital biopsies with nonspecific findings on a frozen section.</p>","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9218613/pdf/oop-0008-0141.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9560884","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":"Clinical Applications of Optical Coherence Tomography Angiography in Ocular Oncology: Pearls and Pitfalls.","authors":"Marco Pellegrini,&nbsp;Giovanni Staurenghi,&nbsp;Chiara Preziosa","doi":"10.1159/000520951","DOIUrl":"https://doi.org/10.1159/000520951","url":null,"abstract":"<p><strong>Background: </strong>Optical coherence tomography angiography (OCTA) is a valuable imaging tool for the diagnosis of several retinal and choroidal diseases. Its role in ocular oncology is clinically promising but still controversial. In this review, we report the main applications and limits of the use of OCTA for the study of intraocular tumors.</p><p><strong>Summary: </strong>OCTA allows a rapid, safe, low-cost, and high-resolution visualization of the retinal and choroidal vasculature. Attempts have been made to use this technology in ocular oncology to differentiate benign and malignant lesions and to assist physicians in the evaluation and monitoring of post-treatment complications. Main limitations include failure in correct segmentation due to the tumor inner profile or thickness, poor penetration of the laser into the lesion, masking effect from overlying fluid, media opacities and poor fixation.</p><p><strong>Key messages: </strong>The main applications of OCTA in ocular oncology consist of the documentation of tumor-associated choroidal neovascularizations and the study of vascular changes following tumor treatments. In particular, the diffusion of wide-field protocols makes OCTA suitable for the diagnosis and follow-up of radiation chorio-retinopathy, allowing a detailed visualization of both macular and peripheral ischemic changes. Optimistically, future innovations in OCTA technology may offer new perspectives in the diagnosis and follow-up of intraocular tumors.</p>","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9218615/pdf/oop-0008-0079.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9560885","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":"Intraocular Lens and Lens Capsule Spread of Iridociliary Melanoma: Clinical and Histopathologic Features of 2 Cases.","authors":"Corrina P Azarcon,&nbsp;Jill R Wells,&nbsp;Thomas Aaberg,&nbsp;Hans E Grossniklaus","doi":"10.1159/000524052","DOIUrl":"https://doi.org/10.1159/000524052","url":null,"abstract":"<p><strong>Purpose: </strong>The aim of this study was to describe 2 patients with intraocular lens (IOL) and lens capsule spread of iridociliary melanoma.</p><p><strong>Methods: </strong>Two pseudophakic patients with iridociliary body melanoma that spread onto the surface of their IOL and remaining lens capsule were included. Their eyes were enucleated and the histopathologic features were evaluated.</p><p><strong>Results: </strong>Case 1 was an 82-year-old woman with diffuse primary iridociliary melanoma affecting the iris, lens capsule, IOL surface, and ciliary body. Case 2 was a 68-year-old female who developed melanoma recurrence in the anterior segment after plaque brachytherapy for iridociliary melanoma. The melanoma in both cases grew as a pigmented membrane onto the surface of the IOL.</p><p><strong>Conclusions: </strong>IOL and lens capsule spread of iridociliary melanoma can occur primarily or develop secondarily after plaque brachytherapy of a pseudophakic eye. Since the extent of the melanoma may be uncertain and there is a high likelihood of glaucoma, enucleation is a reasonable option.</p>","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9218645/pdf/oop-0008-0105.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9557386","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":"Unilateral Multifocal Choroidal Melanoma with Underlying Isolated Choroidal Melanocytosis.","authors":"Maura Di Nicola,&nbsp;Jared J Ebert,&nbsp;Matthew C Hagen,&nbsp;James J Augsburger,&nbsp;Basil K Williams","doi":"10.1159/000522262","DOIUrl":"https://doi.org/10.1159/000522262","url":null,"abstract":"<p><p>Isolated choroidal melanocytosis is a rare condition that appears to be a limited form of ocular melanocytosis. Ocular melanocytosis has been known to be associated with an increased risk of uveal melanoma, and more recently, a similar association has been suggested for isolated choroidal melanocytosis. We describe 3 cases of patients who developed unilateral, multifocal uveal melanoma in the setting of underlying isolated choroidal melanocytosis. All patients developed either two distinct tumors at presentation or a new discrete choroidal melanoma arising from the choroidal melanocytosis over 1 year following treatment of the original tumor by plaque brachytherapy. These cases provide additional evidence of the association between isolated choroidal melanocytosis and uveal melanoma and suggest increased risk of multifocal melanoma in patients with this condition.</p>","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9218616/pdf/oop-0008-0100.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9557389","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":"The Histopathology of Two Eyes Enucleated after Continuous Transscleral and Micropulse Transscleral Cyclophotocoagulation for Refractory Secondary Glaucoma.","authors":"Imani M Williams,&nbsp;Vamsee K Neerukonda,&nbsp;Anna M Stagner","doi":"10.1159/000521739","DOIUrl":"https://doi.org/10.1159/000521739","url":null,"abstract":"<p><strong>Introduction: </strong>Cyclodestructive procedures, which target the nonpigmented epithelium of the ciliary body, have been utilized to treat recalcitrant glaucoma since the early 1930s. There are now various types of cyclophotocoagulation (CPC) available. The authors provide a retrospective description that details the histopathologic findings in 2 patients who underwent CPC for uncontrolled uveitic and neovascular glaucoma (NVG) with subsequent enucleation.</p><p><strong>Case presentations: </strong>Two enucleated globes from 2 patients with secondary refractory glaucoma underwent cilioablative therapy: one with uveitic glaucoma and a remote history of micropulse transscleral CPC (MP-TSCPC) and the other with NVG and a recent history of traditional continuous transscleral CPC (CW-TSCPC). The clinical histories are summarized, and light microscopy reviewed for degree of coagulative necrosis and inflammation of the ciliary body and surrounding structures, as well as the underlying pathology of the glaucoma.</p><p><strong>Conclusion: </strong>Both patients ultimately experienced pain and vision loss with either a recrudescence of elevated intraocular pressure or inflammatory hypotony and subsequently underwent enucleation of the affected eye. One globe was enucleated shortly after CW-TSCPC and found to have near full-thickness coagulative necrosis of the pigmented and nonpigmented ciliary epithelium and ciliary muscle as well as necrosis of adjacent nontarget tissues with fibrin in the anterior chamber. The second patient underwent enucleation many months after MP-TSCPC with partial healing fibrosis of the ciliary body and some remaining viable ciliary processes. The histopathologic findings post-CPC may vary based on the method used and evolve over time; additional study is needed.</p>","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9218618/pdf/oop-0008-0093.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9560888","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":"Single Time Frame Overview of the Genetic Changes in Conjunctival Melanoma from Intraepithelial Disease to Invasive Melanoma: A Study of 4 Exenteration Specimens Illustrating the Potential Role of Cyclin D1.","authors":"Hardeep Singh Mudhar,&nbsp;Sachin S Salvi,&nbsp;Daniel Pissaloux,&nbsp;Arnaud de La Fouchardiere","doi":"10.1159/000520953","DOIUrl":"https://doi.org/10.1159/000520953","url":null,"abstract":"<p><strong>Introduction: </strong>Despite advances in the understanding of the molecular pathogenesis of cutaneous melanoma, relatively little is known about the genetic changes that occur in the progression of conjunctival melanocytic intraepithelial lesions to invasive conjunctival melanoma.</p><p><strong>Methods: </strong>We exposed 4 exenteration specimens that each contained varying grades of intraepithelial conjunctival melanocytic neoplasia and invasive neoplasia to a combination of various techniques, including array comparative genomic hybridization (aCGH), ribonucleic acid sequencing (RNA-seq), fluorescence in situ hybridization (FISH), and immunohistochemistry.</p><p><strong>Results: </strong>Three out of 4 of the invasive melanomas showed gains in 11q13 (CCND1 locus) by aCGH. FISH demonstrated CCND1 gain in invasive melanoma and in conjunctival melanocytic intraepithelial lesions (CMILs) of all grades (low-grade CMILs and in situ melanoma), and this was paralleled by increased expression of Cyclin D1 protein within the atypical melanocytes by immunohistochemistry, using a double-staining method with a red end point for Melan A cytoplasmic staining and a brown end point for nuclear Cyclin D1 expression. Higher grades of melanocytic intraepithelial lesions showed more cells expressing Cyclin D1 than lower grade melanocytic intraepithelial lesions. The Cyclin D1 protein expression was in the same location as the amplified CCND1 signal by FISH. One out of 3 of these cases also showed the amplification of the 12q13-15 locus corresponding to MDM2 and FISH confirmed gains in the conjunctival melanocytic intraepithelial neoplasia and invasive melanoma. The remaining fourth case showed a homozygous deletion of 9p21 (CDKN2A) by aCGH only, with immunohistochemistry showing clonal loss of p16 protein expression in the invasive and conjunctival melanocytic intraepithelial lesion. Two out of 4 of the invasive melanomas harboured classical driver mutations in NRAS and NF-1, respectively. None of the cases showed mutations in BRAF, KIT, and TERT mutations. RNA-seq data showed secondary mutations in ARAF, PLCB4, MET, EZH2, MAP2K2, CTNNB1, CIITA, NF2, TP53, and MEN1, some of which are implicated in the MAPK pathway.</p><p><strong>Conclusion: </strong>CMILs harbour amplifications of CCND1 (3 cases), MDM2 (1 case), and loss of CDKN2A (1 case), which are also present when the lesion progresses to invasive melanoma, implicating these amplifications in the early pathogenesis of CMILs. This study represents the first attempt to capture the mutational landscape of all stages of conjunctival melanoma in a single tissue excision.</p>","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8914236/pdf/oop-0008-0052.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10596008","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}