Kenny Y. Wang, Timothy T. Xu, Launia J. White, Lauren A. Dalvin
{"title":"Predictive Value of the International Classification of Diseases, 9th Revision Codes for Identifying Ocular Oncology Diagnoses","authors":"Kenny Y. Wang, Timothy T. Xu, Launia J. White, Lauren A. Dalvin","doi":"10.1159/000534688","DOIUrl":"https://doi.org/10.1159/000534688","url":null,"abstract":"Introduction: To determine the predictive value of International Classification of Diseases, 9th Revision (ICD-9) billing codes for identifying ocular oncology diagnoses. Methods: Population-based retrospective cohort study of all Olmsted County, Minnesota residents with any ocular neoplasm-related ICD-9 code from January 1, 2006 to October 1, 2015. All medical records were reviewed for confirmation of ocular neoplasm. Diagnoses with ≥5 cases confirmed via medical record review were compared to corresponding ICD-9 codes. Main outcome measures included positive predictive value (PPV), negative predictive value (NPV), sensitivity, and specificity of ICD-9 codes. Results: Among 3,932 subjects with ≥1 ocular neoplasm-related ICD-9 code, 21 diagnoses met study criteria. The most frequent intraocular, extraocular/orbital, and ocular surface diagnoses were choroidal nevus (n=824), epidermal inclusion cyst (n=263), and conjunctival nevus (n=74), respectively. PPVs ranged from 1.2% to 73.8%, NPVs from 96.9% to 100%, sensitivity from 0% to 100%, and specificity from 85.7% to 100%. Among malignant neoplasms, PPV ranged from 0% to 73.8%: ocular surface squamous neoplasia (PPV: 0%), choroidal melanoma (PPV: 25.0%), eyelid squamous cell carcinoma (PPV: 46.7%), and eyelid basal cell carcinoma (PPV: 73.8%). Among benign neoplasms, PPV ranged from 1.2% (dermoid cyst) to 61.6% (choroidal nevus). Conclusion: There was wide variation in predictive value of ocular neoplasm-related ICD-9 billing codes, which suggests that ocular oncology-related claims data alone may overestimate the true number of ocular oncology diagnoses.","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134907523","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}
Khanh Bui, Maurizio Tomaiolo, Kaylene Carter, Codrin Iacob, Vamsee Neerukonda, Anna Stagner, Zaynab Sajjadi, Katherine V. Escobar, Paula Ordoñez Armijos, Ralph C. Eagle, Sonia Mehta, James P. Dunn, Leslie Hyman, Tatyana Milman
{"title":"Sympathetic ophthalmia in patients with enucleation or evisceration: pathology laboratory and IRIS® Registry experience","authors":"Khanh Bui, Maurizio Tomaiolo, Kaylene Carter, Codrin Iacob, Vamsee Neerukonda, Anna Stagner, Zaynab Sajjadi, Katherine V. Escobar, Paula Ordoñez Armijos, Ralph C. Eagle, Sonia Mehta, James P. Dunn, Leslie Hyman, Tatyana Milman","doi":"10.1159/000533310","DOIUrl":"https://doi.org/10.1159/000533310","url":null,"abstract":"Introduction: Sympathetic ophthalmia (SO) is a rare bilateral granulomatous panuveitis that can follow surgical or non-surgical ocular trauma in one eye. Because its diagnosis requires clinical-pathologic correlation, the true incidence of SO is unknown, and there is a need to understand the recent trends in risk factors and frequency of this condition. Methods: Pathology records of all enucleated or eviscerated (ENEV) eyes at three pathology laboratories were reviewed. Data collected included patient demographics, procedure indication, pathology diagnosis, and clinical history of trauma and uveitis. IRIS® Registry (Intelligent Research in Sight) was searched for all patients with SO, acquired absence of eye (AAE), and/or ENEV. Data obtained included patient demographics, ocular procedures, and preoperative diagnoses within 30 days of AAE/ENEV. Results: In the pathology laboratory setting, the incidence of SO over a 36-year period in patients who underwent ENEV was 0.2% (20/9,092); the 5-year incidence ranged from 0.0-0.3%. Among the 20 eyes with SO, the inciting event was surgical trauma in 50% (10/20), non-surgical trauma in 45% (9/20), and missing/undetermined in 5% (1/20). SO was suspected pre-operatively in 7/20 (35%) patients. Clinical concern for SO and ruptured globe were indications for ENEV in 50/9,092 (0.5%) and 872/9,092 (10%) patients, respectively. In the IRIS Registry, 0.7% (199/27,830) of patients with AAE/ENEV had diagnosis of SO. The frequency of SO between 2015-2020 was 0.01% (7,371/62,318,249); of these 7,371 cases, 199 (3%) had AAE/ENEV. In 25,975 patients with available data, injury and SO were listed as diagnoses less than 30 days prior to AAE/ENEV in 909 (4%) and 63 (0.2%) cases, respectively. Discussion/Conclusion: The frequency of SO in recent decades is low. Most cases of SO are not managed with eye removal. In histopathology-confirmed SO, surgical trauma is as frequent as non-surgical trauma as an inciting etiology of disease.","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135646428","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}
Raquel Benavides, Ricardo Mejías, Alejandro Blanco, Luis Bermudez-Guzman
{"title":"CyberKnife Stereotactic Radiosurgery for Uveal Melanoma: First Case Series in Central America","authors":"Raquel Benavides, Ricardo Mejías, Alejandro Blanco, Luis Bermudez-Guzman","doi":"10.1159/000534207","DOIUrl":"https://doi.org/10.1159/000534207","url":null,"abstract":"<b><i>Introduction:</i></b> Uveal melanoma is the most common primary intraocular malignancy in adults, affecting primarily the choroid of the eye. Plaque brachytherapy is the most common procedure for the treatment of small choroidal melanoma, especially in posteriorly located tumors. However, modern radiotherapy techniques, such as CyberKnife or Gamma knife stereotactic radiosurgery (SRS) and proton beam radiotherapy, have shown better results in tumor control and eye retention. Recent studies have indicated that SRS is a promising non-invasive, single-session treatment option, with most studies reporting the best outcomes when using ≥21–22 Gy. However, there is no consistent protocol for managing this pathology using CyberKnife, not only in terms of dose but also fractions. <b><i>Case Presentations:</i></b> Here, we report the first case series of patients (<i>n</i> = 4, age range 38–64 years, median age 52.5 years) with choroidal UM in Central America who were treated with CyberKnife SRS (22 Gy in one session). During the follow-up (range 25–29 months, median 27.5 months), a 100% control rate with no systemic metastatic disease has been achieved. We found a statistically significant reduction in the largest basal diameter at 24 months for all tumors. However, visual acuity has progressively decreased in most patients. Notably, two of our patients developed radiation maculopathy, and the other two developed radiation retinopathy after SRS. <b><i>Conclusions:</i></b> Our findings suggest that future studies should evaluate the use of different prophylactic therapies to prevent the development of side effects. The clinical management of toxicities presented in our report can serve as a reference in the clinical practice of other centers. Our report supports the growing body of evidence showing that CyberKnife radiosurgery is a safe and effective therapeutic option for the treatment of UM.","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135084958","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}
Frances Wu, Anne Marie Lane, Alexei Trofimov, Helen A. Shih, Evangelos S. Gragoudas, Ivana K. Kim
{"title":"Outcomes after proton beam irradiation in patients with choroidal melanoma eligible for investigational AU-011 treatment","authors":"Frances Wu, Anne Marie Lane, Alexei Trofimov, Helen A. Shih, Evangelos S. Gragoudas, Ivana K. Kim","doi":"10.1159/000534184","DOIUrl":"https://doi.org/10.1159/000534184","url":null,"abstract":"<b><i>Introduction:</i></b> Vision loss is common in patients treated with radiotherapy for uveal melanoma. With proton beam irradiation (PBI), the prescribed dose is delivered to the tumor with a sharp dose reduction outside the target volume. However, radiation complications are likely to develop when tumors are located near the optic nerve or fovea. Treatment with light-activated AU-011 (belzupacap sarotalocan), an investigational drug which specifically targets tumor cells, may avoid these complications. We evaluated outcomes in a historical group of patients who fit eligibility criteria for AU-011 therapy and were treated with PBI. <b><i>Methods:</i></b> A consecutive series of patients who received PBI for small choroidal melanoma at a single center between 1986 and 2016 were identified. Consistent with eligibility criteria in clinical trials of AU-011, patients were included when tumor dimensions did not exceed 2.5 mm in maximum thickness and 10.0 mm in largest basal diameter (LBD). Snellen visual acuities were converted to logMAR for analysis. Visual acuity outcomes were analyzed in patients with an initial acuity of logMAR 0.7 or better (equivalent to Snellen 20/100). Rates of visual acuity loss and mortality were calculated using the Kaplan-Meier method. Acuity loss by tumor location was compared using log-rank testing. Rates of tumor recurrence, neovascular glaucoma (NVG), and eye loss were also described. <b><i>Results:</i></b> Two hundred and 22 patients were included in the study. The median age was 60.7 years (range 21.3–94.8 years). Median tumor thickness was 2.0 mm (range 1.2–2.5 mm), and median LBD was 8.0 mm (range 4.0–10.0 mm). Median follow-up was 6.9 years (range 1.0–30.2 years). In 204 patients with a baseline logMAR visual acuity of 0.7 or better, the mean baseline acuity was 0.15 (equivalent to Snellen 20/25), which decreased to 0.52 (approximately Snellen 20/70) by 5 years after PBI. Visual outcomes were significantly worse for patients with tumors located within 3 mm of the optic disc and/or fovea. Tumor recurrence (1.4%), NVG (4.5%), and eye loss (2.7%) were uncommon. <b><i>Discussion:</i></b> Despite the advantageous dose distribution of protons, over half of patients with small choroidal melanomas located near the optic disc or fovea had a visual acuity equivalent to 20/80 or worse at 5 years after PBI. Treatment with AU-011 may allow better vision preservation in small tumors that carry a high risk of vision loss with radiotherapy.","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135109427","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":"Can Enhancement Pattern in Normal-Sized Optic Nerves on Magnetic Resonance Imaging Better Predict Tumor Invasion in Retinoblastoma Eyes?","authors":"Madhu Chiranthan, Rachna Meel, Sanjay Sharma, Neiwete Lomi, Seema Kashyap, Mandeep S Bajaj","doi":"10.1159/000531354","DOIUrl":"https://doi.org/10.1159/000531354","url":null,"abstract":"<p><strong>Introduction: </strong>Optic nerve (ON) enhancement alone without ON thickening on contrast-enhanced magnetic resonance imaging (CE-MRI) can be associated with post-laminar optic nerve invasion (PLONI) in eyes with group E retinoblastoma. A few case reports and retrospective studies in the literature show a poor correlation between ON enhancement on MRI and ON invasion on histopathological examination (HPE). There is no universal consensus on the management of such cases. It is desirable that the presence and extent of a true ON invasion be reliably picked up before planning upfront enucleation in order to avoid stage II disease.</p><p><strong>Methods: </strong>In a prospective study conducted at a tertiary eye care center in North India, all retinoblastoma patients presenting with ON enhancement on imaging were evaluated. Demographic and imaging details, histopathological findings, and treatment details were recorded. The length and pattern of enhancement noted on MRI were correlated with histopathology. Follow-up was done till the end of the study period.</p><p><strong>Results: </strong>Six group E retinoblastoma eyes were evaluated. 3 eyes (50%) showed solid enhancement, 2 eyes (33.33%) had tram track pattern and 1 eye (16.66%) showed punctate enhancement pattern on CE-MRI. On histopathology, 5 (83.33%) cases showed PLONI and all 6 (100%) had ON head infiltration. The cut end of the ON was free in all cases. On correlating MRI and HPE, all eyes with solid enhancement pattern showed PLONI, of which 2/3 (66.6%) had diffuse ON infiltration. Only 50% of eyes with tram track patterns showed PLONI. The case which showed a punctate enhancement pattern showed focal infiltration by tumor cells with vacuolated cytoplasm on HPE. At the last follow-up, all patients were alive and free of disease.</p><p><strong>Conclusion: </strong>ON enhancement patterns may make it more predictive for PLONI on HPE. Solid enhancement pattern appears to correlate better with the extent of ON invasion on HPE, and longer lengths of solid ON enhancement may be considered for neoadjuvant chemotherapy rather than upfront enucleation.</p>","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601867/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71413342","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}
Nathalie Cassoux, Denis Malaise, Livia Lumbroso-Le-Rouic, Jessica Le Gall, Lisa Golmard, Liesbeth Cardoen, Paul Freneaux, Yassine Bouchoucha, Isabelle Aerts, François Doz, Alexandre Matet
{"title":"Diffuse Infiltrating Retinoblastoma with Anterior Chamber Involvement: Conservative Management and Identification of <i>RB1</i> Alterations in Aqueous Humor.","authors":"Nathalie Cassoux, Denis Malaise, Livia Lumbroso-Le-Rouic, Jessica Le Gall, Lisa Golmard, Liesbeth Cardoen, Paul Freneaux, Yassine Bouchoucha, Isabelle Aerts, François Doz, Alexandre Matet","doi":"10.1159/000531233","DOIUrl":"10.1159/000531233","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of the study was to describe the successful conservative management of diffuse infiltrating retinoblastoma (DIR). Identification of <i>RB1</i> pathogenic variant was done after cell-free DNA (cfDNA) analysis in aqueous humor.</p><p><strong>Case presentation: </strong>Herein, we report 2 patients with unilateral, non-familial DIR with anterior and posterior involvement. Both patients underwent liquid biopsy for tumor cfDNA analysis in aqueous humor. Treatment consisted of a combination of systemic and intra-arterial chemotherapy, with consecutive intracameral and intravitreal injections of melphalan. One patient also required iodine-125 brachytherapy. In both cases, tumor cfDNA analysis revealed biallelic somatic alterations of the <i>RB1</i> gene. These alterations were not found in germline DNA. Both patients retained their eyes and had a useful vision after a follow-up of 2 years.</p><p><strong>Conclusion: </strong>In selected cases, conservative management of DIR is safe and effective. Tumor cfDNA analysis in aqueous humor is an effective technique to disclose <i>RB1</i> somatic alterations that guide the germline molecular explorations and improve genetic counseling after conservative treatment.</p>","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601847/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71413343","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}
Tatyana Milman, Hans E Grossniklaus, Gabrielle Goldman-Levy, Tero T Kivelä, Sarah E Coupland, Valerie A White, Hardeep Singh Mudhar, Charles G Eberhart, Robert M Verdijk, Steffen Heegaard, Anthony J Gill, Martine J Jager, Abelardo A Rodríguez-Reyes, Bita Esmaeli, Jennelle C Hodge, Ian A Cree
{"title":"The 5th Edition of the World Health Organization Classification of Tumours of the Eye and Orbit.","authors":"Tatyana Milman, Hans E Grossniklaus, Gabrielle Goldman-Levy, Tero T Kivelä, Sarah E Coupland, Valerie A White, Hardeep Singh Mudhar, Charles G Eberhart, Robert M Verdijk, Steffen Heegaard, Anthony J Gill, Martine J Jager, Abelardo A Rodríguez-Reyes, Bita Esmaeli, Jennelle C Hodge, Ian A Cree","doi":"10.1159/000530730","DOIUrl":"10.1159/000530730","url":null,"abstract":"","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601864/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71413344","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}
Aya Khasati, Caroline Thaung, Hardeep S Mudhar, Bart Wagner, Patricia Goggin, Ian Stoker, Mandeep S Sagoo, Bertil Damato, Hibba Quhill
{"title":"Subconjunctival Ocular Argyrosis following Treatment with Ruthenium 106 Brachytherapy for Choroidal Melanoma.","authors":"Aya Khasati, Caroline Thaung, Hardeep S Mudhar, Bart Wagner, Patricia Goggin, Ian Stoker, Mandeep S Sagoo, Bertil Damato, Hibba Quhill","doi":"10.1159/000531385","DOIUrl":"10.1159/000531385","url":null,"abstract":"<p><strong>Introduction: </strong>Ruthenium-106 (Ru-106) brachytherapy is one of the commonest eye-sparing treatments for choroidal melanoma. These patients require long-term surveillance of the treated tumour remnant to ensure there is no local recurrence. New or progressive pigmented lesions in treated eyes are often regarded as suspicious - especially if there are concerns of extra-scleral extension.</p><p><strong>Case presentations: </strong>We present two cases of posterior choroidal melanoma treated five and 10 years previously with Ru-106. Both cases developed subconjunctival dark/black lesions on the anterior surface of the eye in the quadrant of the conjunctival peritomy during Ru-106 treatment. Both had similar findings on histopathology: black, non-organic, particulate foreign material of varying confluence deposited on elastin and collagen fibres. Energy dispersive X-ray microanalysis confirmed the material contained silver.</p><p><strong>Discussion: </strong>The Ru-106 applicator consists of a radioactive core of Ru-106 encapsulated within pure silver as a radiation shield. During surgical insertion, stainless steel suture needles and forceps can occasionally scratch the applicator's silver eyelets and scatter microscopic particles of elemental silver into the operative field. These particles were likely deposited within the subconjunctival tissues of these patients during brachytherapy administration, leading to localised ocular argyrosis. Iatrogenic ocular argyrosis should be considered in the differential diagnosis of new pigmented lesions in patients treated with Ru-106 brachytherapy. This study is the first to unequivocally identify the cause of some post-brachytherapy ocular surface pigmentation as caused by silver.</p>","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10689982/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77928668","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}
Sarah Joseph, Sarah Pike, Chen-Ching Peng, Brianne Brown, Liya Xu, Jesse L. Berry, Patricia Chévez-Barrios, G. Baker Hubbard, Hans E. Grossniklaus
{"title":"Retinoblastoma with MYCN Amplification Diagnosed from Cell-Free DNA in the Aqueous Humor","authors":"Sarah Joseph, Sarah Pike, Chen-Ching Peng, Brianne Brown, Liya Xu, Jesse L. Berry, Patricia Chévez-Barrios, G. Baker Hubbard, Hans E. Grossniklaus","doi":"10.1159/000533311","DOIUrl":"https://doi.org/10.1159/000533311","url":null,"abstract":"<b><i>Introduction:</i></b> The objective of this study was to report the clinicopathologic features of three cases of <i>MYCN</i>-amplified retinoblastoma identified genetically by aqueous humor sampling. <b><i>Methods:</i></b> Whole-genome sequencing was performed using isolated cell-free DNA (cfDNA) from aqueous humor of 3 retinoblastoma patients. We analyzed genomic copy number and mutational alterations, histologic and pathologic features, and clinical data. <b><i>Results:</i></b> The most common genetic alteration identified in these three retinoblastoma cases was a focal <i>MYCN</i> amplification on 2p. All tumors showed an early age of diagnosis with a median of 9 months. The tumor histopathologic features included neovascularization and subretinal seeding in case 1, diffuse nature with choroidal and prelaminar optic nerve invasion in case 2, and complete vitreous seeding in case 3. Case 1 expressed RB protein and had no <i>RB1</i> mutation, case 2 did not express RB protein and had an <i>RB1</i> mutation, and case 3 did not express RB protein and likely had an epigenetic effect on RB expression. <b><i>Conclusions:</i></b> Our report shows 3 cases of unilateral retinoblastomas diagnosed in patients ranging from 4 months to 18 months old. Genomic analysis from AH cfDNA revealed <i>MYCN</i> amplification with intact RB protein staining in case 1 and lack of RB staining in cases 2 and 3. <i>RB1</i> mutational analysis in the AH confirmed a pathogenic variant in case 2. Clinical pathology showed features requiring aggressive treatment, specifically enucleation. <b><i>Importance:</i></b> <i>MYCN</i>-amplified retinoblastomas demonstrate unique pathogenesis and aggressive behavior, regardless if <i>MYCN</i> is a primary or secondary driver of disease. Genomic analysis from aqueous humor may be useful when deciding to enucleate as opposed to treating conservatively. Focal <i>MYCN</i> amplification on 2p might be relevant for tumor growth in this subset of the retinoblastoma population in terms of targeted therapeutics.","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134932084","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":"Clinical, Radiological, and Histopathological Findings of Post-Exenterated Mucormycosis Specimens","authors":"Vidhyadevi Ramasamy, Shiguru Saudhamini, Sakthisankari Shanmugasundaram, Athira Manayil","doi":"10.1159/000531589","DOIUrl":"https://doi.org/10.1159/000531589","url":null,"abstract":"<b><i>Introduction:</i></b> A sharp upsurge in the number of coronavirus disease-associated mucormycosis cases was noted during the second wave of coronavirus disease in India. The fungal hyphae spread from the nasal mucosa, orbit to the brain, hence otherwise called rhino-orbito-cerebral mucormycosis (ROCM). Prompt diagnosis and early initiation of treatment with amphotericin B, aggressive surgical debridement of the PNS, and orbital exenteration, where indicated, are essential for successful outcome. This study is done to enumerate the clinical, radiological, and histopathological findings of post-exenterated specimens of ROCM. <b><i>Methods:</i></b> This is a non-randomized cross-sectional study conducted at a tertiary care center. Ten post-exenterated specimens were examined histopathologically for the involvement of the central retinal artery, superior ophthalmic vein (SOV), optic nerve, muscle, and orbital fat showing necrosis. Clinical findings of these 10 patients were studied retrospectively for visual loss, proptosis, extraocular movements for muscle involvement, scleral necrosis, and fundus findings for artery or vein occlusions. Preoperative magnetic resonance imaging (MRI) findings like the number of orbital quadrants showing soft tissue thickening or tissue enhancement, diffusion restriction in the optic nerve, soft tissue enhancement seen at the orbital apex or superior orbital fissure, loss of flow void in the left internal carotid artery, enlargement of the SOV containing filling defect on post-contrast images were noted. <b><i>Results:</i></b> Optic nerve involvement was seen in 100% patients clinically, 70% on MRI, and 50% on histopathological examination (HPE). Muscle involvement was seen in 100% patients clinically, 90% on MRI, and 80% on HPE. None of the patients had scleral necrosis clinically. Scleral tenting was seen in 20% patients on MRI and 20% on HPE. Clinically, central retinal artery involvement was seen in 40%, and cilioretinal artery involvement was seen in 10%. MRI could not give much information on artery involvement. Clinically, none of them had central retinal vein occlusion. 20% had an enlarged SOV seen on MRI. HPE showed vascular involvement in 90% of the specimens. <b><i>Conclusion:</i></b> Clinical, radiological, and histopathological findings play a major role in the diagnosis, staging, and follow-up of ROCM.","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134932087","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}