Small Choroidal Melanoma with All Eight Risk Factors for Growth

Total Page:16

File Type:pdf, Size:1020Kb

Small Choroidal Melanoma with All Eight Risk Factors for Growth RETINAL ONCOLOGY CASE REPORTS IN OCULAR ONCOLOGY SECTION EDITOR: CAROL L. SHIELDS, MD Small Choroidal Melanoma With All Eight Risk Factors for Growth BY FELINA V. ZOLOTAREV, BA; KIRAN TURAKA, MD; AND CAROL L. SHIELDS, MD veal melanoma prognosis is A B C dependent on several factors including tumor size, location, U configuration, extraocular extension, cell type, and cytogenetic abnormalities. In general, the smaller the tumor, the better the prognosis.1 In a recent publication on 8,033 eyes with DE uveal melanoma, it was documented that increasing thickness of uveal melanoma was associated with greater risk for metastasis and ultimate death.1 Patients with uveal melanoma measuring 2.5 mm Figure 1. Features of small choroidal melanoma. A pigmented choroidal tumor thickness showed metastasis in 12% at 10 superior to the macula displays orange pigment, seen on autofluorescence (A, years as compared with 26% for those at B), hollowness on ultrasonography (C), and subretinal fluid, depicted on opti- 4.5 mm thickness.1 Hence, early detection cal coherence tomography (D, E). Note the lack of drusen or halo.These fea- of uveal melanoma is important. tures are most consistent with melanoma. The dilemma of early recognition cen- ters on the difficulty in differentiating a benign melanoma display two or three of these factors.2 In this choroidal nevus from a small malignant melanoma. Risk case presentation, we describe a small melanoma with factors for identification of small melanoma, when it all eight risk factors and discuss the importance of early might resemble choroidal nevus, have been identified detection of uveal melanoma. from several oncology centers. In an analysis of 2,514 patients with small choroidal melanocytic tumors, eight CASE REPORT important parameters were found to be predictive of A 55-year-old white woman noted photopsia for 1 year tumor growth; these include tumor Thickness of greater and slight blurred vision in the right eye. Her visual acuity than 2 mm, subretinal Fluid, Symptoms of reduced was 20/30 in her right eye and 20/20 in the left eye. The vision or photopsia, Orange pigment, tumor Margin less anterior segment was unremarkable in both eyes. The than or equal to 3 mm from the optic disc, ultrasound left fundus was normal. In the right fundus, there was a Hollowness, absence of surrounding depigmented Halo small pigmented choroidal lesion located 2.5 mm from and absence of overlying Drusen.2 These factors are the optic nerve, measuring 7.5 x 5.5 mm in basal diame- remembered by the lettering TFSOM-UHHD represent- ter and 2.3 mm in thickness without overlying drusen ing the mnemonic “To Find Small Ocular Melanoma- (Figure 1). The lesion manifested confluent overlying Using Helpful Hints Daily.”2 Most patients with small orange pigment, documented on autofluorescence, and 48 IRETINA TODAYIOCTOBER 2010 RETINAL ONCOLOGY CASE REPORTS IN OCULAR ONCOLOGY AB C Figure 2. Following treatment with plaque radiotherapy and macular-sparing thermotherapy, the choroidal melanoma regressed to 1.7 mm in thickness (A, B) and the subretinal fluid resolved (C). subtle subretinal fluid, confirmed on optical coherence thermotherapy (TTT). Fine needle aspiration biopsy for tomography (OCT). Ultrasonography demonstrated genetic testing at the time of plaque radiotherapy acoustic hollowness within the mass on B-scan and low revealed melanoma with chromosome 3 disomy. This to medium internal reflectivity on A-scan. The presence implied lower risk for metastasis than chromosome 3 of all eight risk factors in this case was strongly suggestive monosomy or other mutations.3 Following treatment, of small choroidal melanoma rather than nevus. Despite visual acuity in the left eye was 20/20 in the first year. The the small size of the tumor, it was treated with iodine-125 tumor regressed to a flat scar of 1.7 mm in thickness by 4 plaque radiotherapy and macula-sparing transpupillary months, and subretinal fluid resolved (Figure 2). TABLE 1. RELATIVE RISK FOR GROWTH OF CHOROIDAL MELANOCYTIC TUMOR INTO MELANOMA COMPARED WITH THOSE WITHOUT RISK FACTORS. Mnemonic Features Hazard Ratioa Hazard ratio Shields CL et al2 COMS4 4 if 2-2.4 mm To Thickness >2 mm 2 18 if 2.5-3 mm Find Fluid 3 NA Small Symptoms 2 NA Ocular Orange pigment 3 2 if minimal 6 if prominent Melanoma Margin ≤3 mm to disc 2 NA Using Helpful Ultrasound Hollow 3 NA Hints Halo absent 6 NA Daily Drusen absent NA 4 a Hazard ratio (rounded) compared to eye without feature using multivariable analysis. Drusen absent was not significant in the study by Shields CL et al,2 but was significant in the study by COMS4 NA = not applicable OCTOBER 2010 IRETINA TODAYI 49 RETINAL ONCOLOGY CASE REPORTS IN OCULAR ONCOLOGY TABLE 2. RISK FOR SYSTEMIC METASTASIS AS DETERMINED BY THE SIZE OF CHOROIDAL MELANOMA AND NUMBER OF YEARS AFTER DIAGNOSIS.1 Melanoma Size (mm) Probability of Metastasis (%)1 at 3 years at 5 years at 10 years Small (0-3.0) 2 5 12 Medium (3.1-8.0) 7 14 25 Large (>8.0) 22 36 49 patients and found that metastasis at 10 years occurred Early intervention with plaque radio- in 12% of small melanoma, 26% of medium, and 49% of large melanoma1 (Table 2). In that analysis, specific therapy was employed for ocular metastatic risk based on size increase showed about 5% tumor control and minimization of increase in metastasis for each millimeter increase in 1 systemic metastatic disease. thickness. In the case presented, early intervention with plaque radiotherapy was employed for ocular tumor control DISCUSSION and minimization of systemic metastatic disease. In In the August 2009 special issue of Archives of summary, risk factors are important when evaluating a Ophthalmology on ophthalmic pathology, risk factors patient with a small melanocytic choroidal tumor as predictive of growth of small choroidal melanocytic they may allow identification of a life-threatening malig- lesions into melanoma were refined.2 The mnemonic nancy at a very early state, perhaps in time before the TFSOM-UHHD was coined to assist ophthalmologists in onset of systemic metastases.1,2 the identification of clinical factors that predict small melanoma. These factors include tumor thickness greater Support provided by the Retina Research Foundation of than 2 mm, subretinal fluid, symptoms of reduced vision the Retina Society in Capetown, South Africa (CLS), and the or photopsia, orange pigment, tumor margin less than or Eye Tumor Research Foundation, Philadelphia, PA (CLS). ■ equal to 3 mm from the optic disc, ultrasound hollow- ness, absence of surrounding depigmented halo, and Felina V. Zolotarev, BA, is a medical student at absence of overlying drusen (previously identified by the Thomas Jefferson University in Philadelphia. Collaborative Ocular Melanoma Study Group).2 The Kiran Turaka, MD, is an Ocular Oncology presence of each of these features was associated with Fellow at Wills Eye Institute, Thomas Jefferson hazard ratio (HR) of 3 for malignant transformation University. (Table 1).2 The various combinations of individual risk Carol L. Shields, MD, is the Co-Director of the factors were further evaluated for total predictive power.2 Ocular Oncology Service, Wills Eye Institute, In this case, all eight risk factors were present. These fac- Thomas Jefferson University. She is a Retina Today tors do not confirm, but strongly suggest the diagnosis of Editorial Board member. Dr. Shields can be melanoma. The greater the number of risk factors, the reached at +1 215 928 3105; fax: +1 215 928 1140; higher the risk for tumor growth, which implies malig- or via e-mail at [email protected]. nancy.2 For example, a patient with a tumor showing The authors have no financial interest on the three risk factors had a fivefold risk compared with a devices or medications in this document. tumor without risk factors, a tumor with five factors had 1. Shields CL, Furuta M, Thangappan A, et al. Metastasis of uveal melanoma millimeter-by- a ninefold risk, and one with seven factors had a 21-fold millimeter in 8033 consecutive eyes. Arch Ophthalmol. 2009;127:989-998. 2 greater risk for growth, likely representing melanoma. 2. Shields CL, Furuta M, Berman EL, et al. Choroidal nevus transformation into melanoma: analysis of 2514 consecutive cases. Arch Ophthalmol. 2009; 127:981-987. Risk for long-term metastasis is substantially less with 3. Shields CL, Materin MA, Teixeira L, et al. Small choroidal melanoma with chromosome 3 small melanoma compared to large melanoma. In the monosomy on fine needle aspiration biopsy. Ophthalmology. 2007; 114:1919-1924. 4. Melia BM, Diener-West SM, Bennett SR, Folk JC, Montague PR, Weingeist TA. same ophthalmic pathology issue, one article focused Collaborative Ocular Melanoma Study Group. Factors predictive of growth and treatment of on choroidal melanoma metastasis in more than 8,000 small choroidal melanoma: COMS report No. 5. Arch Ophthalmol. 1997; 115:1537-1544. 50 IRETINA TODAYIOCTOBER 2010.
Recommended publications
  • Optic Nerve Invasion of Uveal Melanoma: Clinical Characteristics and Metastatic Pattern
    Optic Nerve Invasion of Uveal Melanoma: Clinical Characteristics and Metastatic Pattern Jens Lindegaard,1,2 Peter Isager,3,4 Jan Ulrik Prause,1,2 and Steffen Heegaard1 PURPOSE. To determine the frequency of optic nerve invasion in present independently of decreased visual acuity and tumor uveal melanoma, to identify clinical factors associated with location. (Invest Ophthalmol Vis Sci. 2006;47:3268–3275) optic nerve invasion, and to analyze the metastatic pattern and DOI:10.1167/iovs.05-1435 the association with survival. METHODS. All iris, ciliary body, and choroidal melanomas (N ϭ veal melanoma is the most frequent primary intraocular 2758) examined between 1942 and 2001 at the Eye Pathology Umalignant tumor in adults; in Scandinavia, the incidence 1–4 Institute, University of Copenhagen, Denmark, and the Insti- rate is 5.3 to 8.7 per million person-years. The tumor has a tute of Pathology, Aarhus University Hospital, Aarhus, Den- great propensity to metastasize and to affect the liver in par- 3,5,6 mark, were reviewed. Cases with optic nerve invasion were ticular. Local spread occurs through the overlying Bruch identified and subdivided into prelaminar or laminar invasion membrane, giving access to the subretinal space, or toward the and postlaminar invasion. Clinical characteristics were com- orbit (through the sclera, most often along ciliary vessels and pared with those from 85 cases randomly drawn from all ciliary nerves). Uveal melanoma infiltrates the optic nerve in only body and choroidal melanomas without optic nerve invasion 0.6% to 5% of patients and has been associated with high intraocular pressure, non–spindle cell type, juxtapapillary lo- from the same period.
    [Show full text]
  • Uveal Melanoma-Derived Extracellular Vesicles Display Transforming Potential and Carry Protein Cargo Involved in Metastatic Niche Preparation
    cancers Article Uveal Melanoma-Derived Extracellular Vesicles Display Transforming Potential and Carry Protein Cargo Involved in Metastatic Niche Preparation Thupten Tsering 1, Alexander Laskaris 1, Mohamed Abdouh 1 , Prisca Bustamante 1 , Sabrina Parent 1 , Eva Jin 1, Sarah Tadhg Ferrier 1, Goffredo Arena 1,2,3 and Julia V. Burnier 1,4,* 1 Cancer Research Program, Research Institute of the McGill University Health Centre, 1001 Decarie Blvd, Montreal, QC H4A 3J1, Canada; [email protected] (T.T.); [email protected] (A.L.); [email protected] (M.A.); [email protected] (P.B.); [email protected] (S.P.); [email protected] (E.J.); [email protected] (S.T.F.); goff[email protected] (G.A.) 2 Ospedale Giuseppe Giglio Fondazione San Raffaele Cefalu Sicily, 90015 Cefalu, Italy 3 Mediterranean Institute of Oncology, 95029 Viagrande, Italy 4 Experimental Pathology Unit, Department of Pathology, McGill University, QC H3A 2B4, Canada * Correspondence: [email protected]; Tel.: +1-514-934-1934 (ext. 76307) Received: 13 September 2020; Accepted: 7 October 2020; Published: 11 October 2020 Simple Summary: Uveal melanoma is a rare but deadly cancer that shows remarkable metastatic tropism to the liver. Extracellular vesicles (EVs) are nanometer-sized, lipid bilayer-membraned particles that are released from cells. In our study we used EVs derived from primary normal choroidal melanocytes and matched primary and metastatic uveal melanoma cell lines from a patient. Analysis of these EVs revealed important protein signatures that may be involved in tumorigenesis and metastatic dissemination. We have established a model to study EV functions and phenotypes which can be used in EV-based liquid biopsy.
    [Show full text]
  • Melanomas Are Comprised of Multiple Biologically Distinct Categories
    Melanomas are comprised of multiple biologically distinct categories, which differ in cell of origin, age of onset, clinical and histologic presentation, pattern of metastasis, ethnic distribution, causative role of UV radiation, predisposing germ line alterations, mutational processes, and patterns of somatic mutations. Neoplasms are initiated by gain of function mutations in one of several primary oncogenes, typically leading to benign melanocytic nevi with characteristic histologic features. The progression of nevi is restrained by multiple tumor suppressive mechanisms. Secondary genetic alterations override these barriers and promote intermediate or overtly malignant tumors along distinct progression trajectories. The current knowledge about pathogenesis, clinical, histological and genetic features of primary melanocytic neoplasms is reviewed and integrated into a taxonomic framework. THE MOLECULAR PATHOLOGY OF MELANOMA: AN INTEGRATED TAXONOMY OF MELANOCYTIC NEOPLASIA Boris C. Bastian Corresponding Author: Boris C. Bastian, M.D. Ph.D. Gerson & Barbara Bass Bakar Distinguished Professor of Cancer Biology Departments of Dermatology and Pathology University of California, San Francisco UCSF Cardiovascular Research Institute 555 Mission Bay Blvd South Box 3118, Room 252K San Francisco, CA 94158-9001 [email protected] Key words: Genetics Pathogenesis Classification Mutation Nevi Table of Contents Molecular pathogenesis of melanocytic neoplasia .................................................... 1 Classification of melanocytic neoplasms
    [Show full text]
  • Posterior Uveal (Ciliary Body and Choroidal) Melanoma Leslie T
    Posterior Uveal (Ciliary Body and Choroidal) Melanoma Leslie T. L. Pham, MD, Jordan M. Graff, MD, and H. Culver Boldt, MD July 27, 2010 Chief Complaint: 31-year-old man with "floaters and blurry vision" in the right eye (OD). History of Present Illness: In August 2007, a healthy 31-year-old truck driver from Nebraska started noticing floaters in his right eye. The floaters gradually worsened and clouded his central vision. His family doctor tried changing his blood pressure medications, but this did not help. He later saw an ophthalmologist in his home state who told him there was a "mass" in his right eye. He was referred to the University of Iowa Department of Ophthalmology and Visual Sciences. Past Ocular History: The patient has had no prior eye surgery or trauma. Past Medical History: The patient reports prior excision of a benign skin nevus. He also has hypertension. Medications: Metoprolol and triamterene/hydrochlorothiazide Family History: The patient’s mother has a history of neurofibromatosis. His father had an enucleation for an "eye cancer" and subsequently died due to metastatic spread of the cancer. His grandmother had skin melanoma. Social History: The patient lives in Nebraska with his wife and child. He has never smoked and only drinks on "special occasions". Review of Systems: Negative, except as noted above. Ocular Examination: General: Well-developed, well-nourished Caucasian man in a pleasant mood Skin: Several scattered macules and papules on the trunk and all four extremities Distance visual acuity (without correction): o 20/60-2 OD o 20/20 OS Near acuity (without correction) o 20/30 OD o 20/20 OS Ocular motility: Full OU.
    [Show full text]
  • Families with BAP1-Tumor Predisposition Syndrome in the Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines
    cancers Article Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines Cindy Chau 1 , Remco van Doorn 2, Natasha M. van Poppelen 3,4, Nienke van der Stoep 5, Arjen R. Mensenkamp 6 , Rolf H. Sijmons 7, Barbara W. van Paassen 3, Ans M. W. van den Ouweland 3, Nicole C. Naus 4, Annemieke H. van der Hout 7, Thomas P. Potjer 5, Fonnet E. Bleeker 8, Marijke R. Wevers 6, Liselotte P. van Hest 9, Marjolijn C. J. Jongmans 6,10, Marina Marinkovic 1, Jaco C. Bleeker 1, Martine J. Jager 1 , Gregorius P. M. Luyten 1 and Maartje Nielsen 5,* 1 Department of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands 2 Department of Dermatology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands 3 Department of Clinical Genetics, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands 4 Department of Ophthalmology, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands 5 Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands 6 Department of Clinical Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands 7 Department of Genetics, University Medical Center Groningen, 9713 GZ Groningen, The Netherlands 8 Department of Clinical Genetics, Netherlands Cancer Institute, 1066 CX Amsterdam, The Netherlands 9 Department of Clinical Genetics, Amsterdam University Medical Centers, 1081 HV Amsterdam, The Netherlands 10 Department of Clinical Genetics, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands * Correspondence: [email protected] Received: 30 June 2019; Accepted: 1 August 2019; Published: 4 August 2019 Abstract: Germline pathogenic variants in the BRCA1-associated protein-1 (BAP1) gene cause the BAP1-tumor predisposition syndrome (BAP1-TPDS, OMIM 614327).
    [Show full text]
  • Genetic Testing for Uveal Melanoma, MPM
    Medical Policy Subject: Genetic Testing for Uveal Melanoma Medical Policy #: 7.9 Original Effective Date: 11/20/2019 Status: Review Last Review Date: 01-27-2021 Disclaimer Refer to the member’s specific benefit plan and Schedule of Benefits to determine coverage. This may not be a benefit on all plans or the plan may have broader or more limited benefits than those listed in this Medical Policy. Description Uveal melanoma is a rare cancer, and most common intra-ocular cancer in adults. DecisionDx-UM is an RNA gene expression classifier that is based on the expression levels of 15 mRNA transcripts (3 control and 12 discriminating genes). DecisionDx-UM is performed on tissue from a fresh-frozen fine needle aspirate biopsy (FNAB), formalin-fixed paraffin embedded (FFPE) sections from an enucleated tumor, or, in rare cases, fresh-frozen resection material. DecisionDX-UM results are reported as a 5-year risk classification for metastasis: low-risk (Class 1A), intermediate risk (Class 1B), or high risk (Class 2). Coverage Determination Prior Authorization is required. Logon to Pres Online to submit a request: https://ds.phs.org/preslogin/index.jsp Decision Dx-UM (Uveal Melanoma) test is covered for Medicare, Medicaid (Centennial) and Commercial members. Presbyterian Health Plan considers DecisionDX-UM (uveal melanoma) medically necessary and uses two-mandated coverage statements to address this benefit. PHP follows CMS MoIDX: Decision Dx-UM (Uveal Melanoma) (L37210) and LCD Biomarkers for Oncology (L35396) for Prognostic of Uveal Melanoma (GNAQ and GNA11). DecisionDX-UM assay is intended for determination of metastatic risk, and to guide surveillance and referral to medical oncology in patients who have a confirmed diagnosis of uveal melanoma (UM) and no evidence of metastatic disease.
    [Show full text]
  • Gene Expression Profiling of Melanomas Policy Number: PG0119 ADVANTAGE | ELITE | HMO Last Review: 03/01/2021
    Gene Expression Profiling of Melanomas Policy Number: PG0119 ADVANTAGE | ELITE | HMO Last Review: 03/01/2021 INDIVIDUAL MARKETPLACE | PROMEDICA MEDICARE PLAN | PPO GUIDELINES This policy does not certify benefits or authorization of benefits, which is designated by each individual policyholder terms, conditions, exclusions and limitations contract. It does not constitute a contract or guarantee regarding coverage or reimbursement/payment. Self-Insured group specific policy will supersede this general policy when group supplementary plan document or individual plan decision directs otherwise. Paramount applies coding edits to all medical claims through coding logic software to evaluate the accuracy and adherence to accepted national standards. This medical policy is solely for guiding medical necessity and explaining correct procedure reporting used to assist in making coverage decisions and administering benefits. SCOPE X Professional X Facility DESCRIPTION Gene expression profiling (GEP) tests differ from germline genetic tests. Germline genetic testing, analyzes an individual’s deoxyribonucleic acid (DNA) and can identify genetic mutations to determine inherited risk of disease. An individual’s germline DNA is constant and works as a baseline for the body’s genetic material. RNA activity is measured by gene expression analysis. It is dynamic and responds to cellular environmental signals. GEP tests are typically performed on tumor tissue but may also be performed on other specimens such as blood (using circulating tumor DNA or circulating tumor cells). These tests often use microarray technology though other methodologies are also possible. GEP tests are used to determine prognosis, refine risk stratification and/or optimize treatment regimens primarily for cancer. Cutaneous melanoma represents less than 5% of skin malignancies but results in the most skin cancer deaths.
    [Show full text]
  • Uveal Melanoma
    A GUIDE TO UVEAL MELANOMA MELANOMA OF THE EYE: An information guide for patients newly diagnosed with uveal melanoma ACKNOWLEDGMENTS We would like to thank all the patients who shared their experiences and opinions with us. We would like to show our appreciation and gratitude to the following individuals who provided their expertise and review for the development of this Booklet: • Annette Cyr, Chair, Melanoma Network of Canada • Anthony Joshua, MBBS, PHD, Princess Margaret Hospital • Hatem Krema MD, Ocular Oncology, Princess Margaret Hospital, University Health Network • Anthony B. Mak, PhD, MD 2016 Candidate, University of Toronto • E. Rand Simpson MD, Ocular Oncology, Princess Margaret Hospital, University Health Network • Leah Iszakovits MA, PMP, patient We would like to thank Princess Margaret Hospital for its fnancial support to make this educational material available for all the patients. The Melanoma Network of Canada (MNC) is a national, patient-led, charitable organization. The mission of the MNC is to provide melanoma patients and their caregivers with current and accurate information and services about the prevention and treatment of melanoma. Melanoma Network of Canada 1155 North Service Road W, Unit 11 Oakville, Ontario L6M 3E3 P: 905-901-5121 | www.melanomanetwork.ca 1 TABLE OF CONTENTS Quick facts .............................................................................................................. 3 Introduction The eye .............................................................................................................
    [Show full text]
  • Decisiondx Uveal Melanoma
    Lab Management Guidelines V1.0.2021 DecisionDx Uveal Melanoma MOL.TS.254.A v1.0.2021 Procedures addressed The inclusion of any procedure code in this table does not imply that the code is under management or requires prior authorization. Refer to the specific Health Plan's procedure code list for management requirements. Procedures addressed by this Procedure codes guideline DecisionDx Uveal Melanoma 81552 DecisionDx-PRAME 81401 DecisionDx-UMSeq 81479 What is DecisionDx Uveal Melanoma Definition Uveal melanoma is a rare cancer of the eye, arising in the choroid, ciliary body or iris of the eye, with about 1500 new cases per year in the US. It accounts for about 5% of all melanomas in the US.1 Uveal melanoma differs from cutaneous melanoma with regard to risk factors, molecular features, prognostic factors, and treatment methods. About 50% of patients with uveal melanoma will ultimately develop metastatic disease despite local therapy.1 DecisionDx Uveal Melanoma (DecisionDx-UM) is a test designed to assess an individual’s risk of metastasis after an initial diagnosis of uveal melanoma.2 Test information DecisionDx-UM measures gene expression of 15 genes present in an ocular melanoma tumor. This test is designed to assess the risk of metastasis within 5 years.2 DecisionDx-UM test results are reported as follows: o Class 1A – very low risk (2%) of metastasis within 5 years3 o Class 1B – moderate risk (21%) of metastasis within 5 years3 o Class 2 – high risk (72%) of metastasis within 5 years3 © 2020 eviCore healthcare. All Rights Reserved. 1 of 5 400 Buckwalter Place Boulevard, Bluffton, SC 29910 (800) 918-8924 www.eviCore.com Lab Management Guidelines V1.0.2021 DecisionDx-PRAME is a test that can be added on to the DecisionDx-UM assay.
    [Show full text]
  • Ocular Oncology and Pathology 2018 Hot Topics in Ocular Pathology and Oncology— an Update
    Ocular Oncology and Pathology 2018 Hot Topics in Ocular Pathology and Oncology— An Update Program Directors Patricia Chévez-Barrios MD and Dan S Gombos MD In conjunction with the American Association of Ophthalmic Oncologists and Pathologists McCormick Place Chicago, Illinois Saturday, Oct. 27, 2018 Presented by: The American Academy of Ophthalmology 2018 Ocular Oncology and Pathology Subspecialty Day Advisory Committee Staff Planning Group Daniel S Durrie MD Melanie R Rafaty CMP DES, Director, Patricia Chévez-Barrios MD Associate Secretary Scientific Meetings Program Director Julia A Haller MD Ann L’Estrange, Subspecialty Day Manager Dan S Gombos MD Michael S Lee MD Carolyn Little, Presenter Coordinator Program Director Francis S Mah MD Debra Rosencrance CMP CAE, Vice R Michael Siatkowski MD President, Meetings & Exhibits Former Program Directors Kuldev Singh MD MPH Patricia Heinicke Jr, Copy Editor 2016 Carol L Shields MD Mark Ong, Designer Maria M Aaron MD Gina Comaduran, Cover Designer Patricia Chévez-Barrios MD Secretary for Annual Meeting 2014 Hans E Grossniklaus MD Arun D Singh MD ©2018 American Academy of Ophthalmology. All rights reserved. No portion may be reproduced without express written consent of the American Academy of Ophthalmology. ii Planning Group 2018 Subspecialty Day | Ocular Oncology & Pathology 2018 Ocular Oncology and Pathology Planning Group On behalf of the American Academy of Ophthalmology and the American Association of Ophthalmic Oncologists and Pathologists, it is our pleasure to welcome you to Chicago and
    [Show full text]
  • Recent Advancements in the Management of Retinoblastoma and Uveal Melanoma [Version 1; Peer Review: 2 Approved] Amy C Schefler1,2, Ryan S Kim1,3
    F1000Research 2018, 7(F1000 Faculty Rev):476 Last updated: 17 JUL 2019 REVIEW Recent advancements in the management of retinoblastoma and uveal melanoma [version 1; peer review: 2 approved] Amy C Schefler1,2, Ryan S Kim1,3 1Retina Consultants of Houston, Houston, TX, 77030, USA 2Blanton Eye Institute, Houston Methodist Hospital, Houston, TX, 77030, USA 3McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, 77030, USA First published: 18 Apr 2018, 7(F1000 Faculty Rev):476 ( Open Peer Review v1 https://doi.org/10.12688/f1000research.11941.1) Latest published: 18 Apr 2018, 7(F1000 Faculty Rev):476 ( https://doi.org/10.12688/f1000research.11941.1) Reviewer Status Abstract Invited Reviewers Retinoblastoma and uveal melanoma are the most common intraocular 1 2 malignancies observed in pediatric and adult populations, respectively. For retinoblastoma, intra-arterial chemotherapy has dramatically improved version 1 treatment outcomes and eye salvage rates compared with traditional published salvage rates of systemic chemotherapy and external beam radiation 18 Apr 2018 therapy. Intravitreal injections of chemotherapy have also demonstrated excellent efficacy for vitreous seeds. Uveal melanoma, on the other hand, is treated predominantly with iodine-125 plaque brachytherapy or with proton F1000 Faculty Reviews are written by members of beam therapy. Major strides in uveal melanoma genomics have been made the prestigious F1000 Faculty. They are since the early 2000s, allowing ocular oncologists to better understand the commissioned and are peer reviewed before metastatic risks of the tumor on the basis of specific genetic signatures. publication to ensure that the final, published version Loss-of-function mutations of the BAP1 gene are associated with the highest metastatic risk, whereas gain-of-function mutations of SF3B1 and is comprehensive and accessible.
    [Show full text]
  • Sample Report
    Uveal Melanoma Castle ID: u5013-13456 Page 1 of 2 FINAL REPORT Patient:Patient: Gerald Hightower TypeType of of Specimen: Specimen:Fresh Fresh Frozen Frozen FNAB FNAB Sex:Sex: Male SpecimenSpecimen ID: ID: N/A DOB:DOB: 06/13/1634 Collected:Collected: 09/17/2017 MRN: 134556879 Received: 09/30/2017 MRN: Received: Client: Citadel of Oldtown Reported: 10/05/2017 Client:Treating Clinician: Maester Aemon, MD Reported:*Specimen Received Outsidee of Specifications:S Clinician: Specimen outside of specpec commcomments here Line 2 DecisionDx-UM Result Class Class 1 molecular signatureure is associated with a low riskr oof near term Class 1 molecular signatureatureure is associated ssociateditd with ithl a low riskr of near term (within(within 55 years)years) clinical clinicalall metastasismetastasis.metastasis.s Subanalysis SubSuSub-analysis-analysisnalysisalysis indiindicates in indicatesind a a C Classlass 1A 1A tumor which carriess the lowest west metastatic tti risk. ikA A discrimidiscriminantGLVFULPGLVFULPLQDQWYDOXH value ≥ 1A1A 0.10010000 is s reported epopoportedorted ted with ith t normal o a cocconfidence.confidence de c Discriminant Value: 0.75 e Discriminant Value: 0.52 Test Results should be interpreted using the Clinical Experiencncee information containedntained in this reportrepor whichle is derivedde from clinical studies involving patient populations with specific clinical features aass noted inn section titled Clinical Experience.Experie ThesThese results have not been validated in patients with clinical features different from thohosese described.ibed. The discriminant value relates to Class 1 vs 2. See page 2 of report for discussion on discriminant value confidence.. ASSAY DESCRIPTION ® pple DecisionDx -UM gene expression assay for uveal melanomaanoma is a proprietary assay that uses RT-PCRR to determine the expression of a panel of 15 genes (3 control) in the supplieded tumor tissue.ue.
    [Show full text]