دورية أكاديمية
أعرض في EDS

COMPREHENSIVE MOLECULAR PROFILING OF UVEAL MELANOMA EVALUATED WITH GENE EXPRESSION PROFILING, PREFERENTIALLY EXPRESSED ANTIGEN IN MELANOMA EXPRESSION, AND NEXT-GENERATION SEQUENCING.

التفاصيل البيبلوغرافية
العنوان: COMPREHENSIVE MOLECULAR PROFILING OF UVEAL MELANOMA EVALUATED WITH GENE EXPRESSION PROFILING, PREFERENTIALLY EXPRESSED ANTIGEN IN MELANOMA EXPRESSION, AND NEXT-GENERATION SEQUENCING.
المؤلفون: Alsoudi AF; Department of Ophthalmology, Baylor College of Medicine, Houston, Texas., Skrehot HC; School of Medicine, Baylor College of Medicine, Houston, Texas., Chévez-Barrios P; Department of Ophthalmology, Baylor College of Medicine, Houston, Texas.; Department of Pathology and Genomic Medicine, Weill Cornell Medicine, Houston Methodist Hospital, Houston, Texas.; Blanton Eye Institute, Weill Cornell Medicine, Houston Methodist Hospital, Houston, Texas; and., Divatia M; Department of Pathology and Genomic Medicine, Weill Cornell Medicine, Houston Methodist Hospital, Houston, Texas., De La Garza M; Department of Pathology and Genomic Medicine, Weill Cornell Medicine, Houston Methodist Hospital, Houston, Texas., Bretana ME; Retina Consultants of Texas, Houston, Texas., Schefler AC; Blanton Eye Institute, Weill Cornell Medicine, Houston Methodist Hospital, Houston, Texas; and.; Retina Consultants of Texas, Houston, Texas.
المصدر: Retina (Philadelphia, Pa.) [Retina] 2024 Sep 01; Vol. 44 (9), pp. 1580-1589.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8309919 Publication Model: Print Cited Medium: Internet ISSN: 1539-2864 (Electronic) Linking ISSN: 0275004X NLM ISO Abbreviation: Retina Subsets: MEDLINE
أسماء مطبوعة: Publication: Hagerstown, MD : Lippincott Williams & Wilkins
Original Publication: Philadelphia : Lippincott, [1981?-
مواضيع طبية MeSH: Uveal Neoplasms*/genetics , Uveal Neoplasms*/diagnosis , Melanoma*/genetics , High-Throughput Nucleotide Sequencing* , Antigens, Neoplasm*/genetics , Gene Expression Profiling*/methods , Biomarkers, Tumor*/genetics, Humans ; Retrospective Studies ; Male ; Female ; Middle Aged ; Aged ; Mutation ; Adult ; Gene Expression Regulation, Neoplastic ; Aged, 80 and over ; Eukaryotic Initiation Factor-1/genetics ; RNA Splicing Factors/genetics ; RNA Splicing Factors/metabolism ; Brachytherapy ; Phosphoproteins ; Tumor Suppressor Proteins ; Ubiquitin Thiolesterase
مستخلص: Purpose: To determine the association between gene-expression profiling (GEP), next-generation sequencing (NGS), preferentially expressed antigen in melanoma (PRAME) features, and metastatic risk in patients with uveal melanoma (UM).
Methods: A retrospective analysis of patients with UM treated by brachytherapy or enucleation by a single ocular oncologist was conducted from November 2020 and July 2022. Clinicopathologic features, patient outcomes, GEP classification, NGS, and PRAME results were recorded.
Results: Comprehensive GEP, PRAME, and NGS testing was performed on 135 UMs. The presence of eukaryotic translation initiation factor 1A, X-chromosomal and splicing factor 3B subunit 1 mutations was significantly associated with GEP class 1A and GEP class 1B, respectively. The presence of BRCA- associated protein-1 mutation was significantly associated with GEP class 2. The average largest basal diameter for tumors with eukaryotic translation initiation factor 1A, X-chromosomal mutations was significantly smaller than those with splicing factor 3B subunit 1 mutations and BRCA1-associated protein-1 mutations. Class 2 tumors metastasized sooner than GEP class 1 tumors. Tumors with splicing factor 3B subunit 1 and/or BRCA1-associated protein-1 mutations metastasized sooner compared with tumors that had either no driver mutation or no mutations at all. Tumors with splicing factor 3B subunit 1 did not have a significantly different time to metastasis compared with tumors with BRCA1-associated protein-1 (P value = 0.97). Forty tumors (30%) were PRAME positive, and the remaining 95 tumors (70%) were PRAME negative. Tumors with PRAME-positive status did not have a significantly different time to metastasis compared with tumors without PRAME-positive status (P value = 0.11).
Conclusion: GEP, NGS, and PRAME expression analysis help determine different levels of metastatic risk in UM. Although other prognostic tests exist, the following study reports on the use of NGS for metastatic prognostication in UM. However, limitations of NGS exist, especially with small lesions that are technically difficult to biopsy.
References: Singh AD, Turell ME, Topham AK. Uveal melanoma: trends in incidence, treatment, and survival. Ophthalmology 2011;118:1881–1885.
Schefler AC, Kim RS. Recent advancements in the management of retinoblastoma and uveal melanoma. Fac Rev 2021;10:51.
Krantz BA, Dave N, Komatsubara KM, et al. Uveal melanoma: epidemiology, etiology, and treatment of primary disease. Clin Ophthalmol 2017;11:279–289.
Foti PV, Travali M, Farina R, et al. Diagnostic methods and therapeutic options of uveal melanoma with emphasis on MR imaging—part I: MR imaging with pathologic correlation and technical considerations. Insights Imaging 2021;12:66.
Kaliki S, Shields CL. Uveal melanoma: relatively rare but deadly cancer. Eye (Lond) 2017;31:241–257.
Jager MJ, Shields CL, Cebulla CM, et al. Uveal melanoma. Nat Rev Dis Primers 2020;6:24.
Onken MD, Worley LA, Char DH, et al. Collaborative Ocular Oncology Group report number 1: prospective validation of a multi-gene prognostic assay in uveal melanoma. Ophthalmology 2012;119:1596–1603.
Damato B, Dopierala JA, Coupland SE. Genotypic profiling of 452 choroidal melanomas with multiplex ligation-dependent probe amplification. Clin Cancer Res 2010;16:6083–6092.
Berus T, Halon A, Markiewicz A, et al. Clinical, histopathological and cytogenetic prognosticators in uveal melanoma—a comprehensive review. Anticancer Res 2017;37:6541–6549.
Robertson AG, Shih J, Yau C, et al. Integrative analysis identifies four molecular and clinical subsets in uveal melanoma. Cancer Cell 2017;32:204–220.e15.
Abdel-Rahman MH, Cebulla CM, Verma V, et al. Monosomy 3 status of uveal melanoma metastases is associated with rapidly progressive tumors and short survival. Exp Eye Res 2012;100:26–31.
Smit KN, van Marion R, Kalirai H, et al. Combined mutation and copy-number variation detection by targeted next-generation sequencing in uveal melanoma. Mod Pathol 2018;31:763–771.
Gill VT, Sabazade S, Herrspiegel C, et al. A prognostic classification system for uveal melanoma based on a combination of patient age and sex, the American Joint Committee on Cancer and the Cancer Genome Atlas models. Acta Ophthalmol 2023;101:34–48.
Shields CL, Say EAT, Hasanreisoglu M, et al. Personalized prognosis of uveal melanoma based on cytogenetic profile in 1059 patients over an 8-year period: the 2017 Harry S. Gradle Lecture. Ophthalmology 2017;124:1523–1531.
Cai L, Paez-Escamilla M, Walter SD, et al. Gene expression profiling and PRAME status versus tumor-node-metastasis staging for prognostication in uveal melanoma. Am J Ophthalmol 2018;195:154–160.
Harbour JW, Onken MD, Roberson EDO, et al. Frequent mutation of BAP1 in metastasizing uveal melanomas. Science 2010;330:1410–1413.
Field MG, Decatur CL, Kurtenbach S, et al. PRAME as an independent biomarker for metastasis in uveal melanoma. Clin Cancer Res 2016;22:1234–1242.
Martin M, Maßhöfer L, Temming P, et al. Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3. Nat Genet 2013;45:933–936.
Harbour JW, Kurtenbach S, Sanchez M, et al. PRAME induces genomic instability in uveal melanoma. Res Sq 2024;43:555–565.
Field MG, Durante MA, Decatur CL, et al. Epigenetic reprogramming and aberrant expression of PRAME are associated with increased metastatic risk in class 1 and class 2 uveal melanomas. Oncotarget 2016;7:59209–59219.
Thornton S, Coupland SE, Olohan L, et al. Targeted next-generation sequencing of 117 routine clinical samples provides further insights into the molecular landscape of uveal melanoma. Cancers 2020;12:1039.
Kim RS, Chevez-Barrios P, Divatia M, et al. Yield, techniques, and complications of transvitreal and transscleral biopsies in small uveal melanoma. JAMA Ophthalmol 2018;136:482–488.
Schefler AC, Skalet A, Oliver SC, et al. Prospective evaluation of risk-appropriate management of uveal melanoma patients informed by gene expression profiling. Melanoma Manag 2020;7:MMT37.
Kujala E, Mäkitie T, Kivelä T. Very long-term prognosis of patients with malignant uveal melanoma. Invest Ophthalmol Vis Sci 2003;44:4651–4659.
Nichols EE, Richmond A, Daniels AB. Micrometastatic dormancy in uveal melanoma: a comprehensive review of the evidence, mechanisms, and implications for future adjuvant therapies. Int Ophthalmol Clin 2017;57:1–10.
Davanzo JM, Binkley EM, Bena JF, Singh AD. Risk-stratified systemic surveillance in uveal melanoma. Br J Ophthalmol 2019;103:1868–1871.
Plasseraud KM, Cook RW, Tsai T, et al. Clinical performance and management outcomes with the DecisionDx-UM gene expression profile test in a prospective multicenter study. J Oncol 2016;2016:5325762.
Aaberg TM, Cook RW, Oelschlager K, et al. Current clinical practice: differential management of uveal melanoma in the era of molecular tumor analyses. Clin Ophthalmol 2014;8:2449–2460.
Kaliki S, Shields CL, Shields JA. Uveal melanoma: estimating prognosis. Indian J Ophthalmol 2015;63:93–102.
Tschentscher F, Hüsing J, Hölter T, et al. Tumor classification based on gene expression profiling shows that uveal melanomas with and without monosomy 3 represent two distinct entities. Cancer Res 2003;63:2578–2584.
Smit KN, Jager MJ, de Klein A, Kiliҫ E. Uveal melanoma: towards a molecular understanding. Prog Retin Eye Res 2020;75:100800.
See TR, Stålhammar G, Phillips S, Grossniklaus HE. BAP1 immunoreactivity correlates with gene expression class in uveal melanoma. Ocul Oncol Pathol 2020;6:129–137.
Afshar AR, Damato BE, Stewart JM, et al. Next-generation sequencing of uveal melanoma for detection of genetic alterations predicting metastasis. Transl Vis Sci Technol 2019;8:18.
Han LM, Khanafshar E, Afshar AR, Calkins SM. The diagnostic utility of next-generation sequencing on FNA biopsies of melanocytic uveal lesions. Cancer Cytopathol 2020;128:499–505.
Damato B, Coupland SE. A reappraisal of the significance of largest basal diameter of posterior uveal melanoma. Eye (Lond) 2009;23:2152–2162; quiz 2161-2162.
Diener-West M, Hawkins BS, Markowitz JA, Schachat AP. A review of mortality from choroidal melanoma. II. A meta-analysis of 5-year mortality rates following enucleation, 1966 through 1988. Arch Ophthalmol 1992;110:245–250.
Yavuzyigitoglu S, Koopmans AE, Verdijk RM, et al. Uveal melanomas with SF3B1 mutations: a distinct subclass associated with late-onset metastases. Ophthalmology 2016;123:1118–1128.
Decatur CL, Ong E, Garg N, et al. Driver mutations in uveal melanoma: associations with gene expression profile and patient outcomes. JAMA Ophthalmol 2016;134:728–733.
Rose AM, Luo R, Radia UK, et al. Detection of mutations in SF3B1, EIF1AX and GNAQ in primary orbital melanoma by candidate gene analysis. BMC Cancer 2018;18:1262.
Yoshida K, Sanada M, Shiraishi Y, et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 2011;478:64–69.
Szalai E, Wells JR, Ward L, Grossniklaus HE. Uveal melanoma nuclear BRCA1-associated protein-1 immunoreactivity is an indicator of metastasis. Ophthalmology 2018;125:203–209.
Matatall KA, Agapova OA, Onken MD, et al. BAP1 deficiency causes loss of melanocytic cell identity in uveal melanoma. BMC Cancer 2013;13:371.
van Essen TH, van Pelt SI, Versluis M, et al. Prognostic parameters in uveal melanoma and their association with BAP1 expression. Br J Ophthalmol 2014;98:1738–1743.
Klofas LK, Bogan CM, Coogan A, et al. Instrument gauge and type in uveal melanoma fine needle biopsy: implications for diagnostic yield and molecular prognostication. Am J Ophthalmol 2021;221:83–90.
Onken MD, Worley LA, Tuscan MD, Harbour JW. An accurate, clinically feasible multi-gene expression assay for predicting metastasis in uveal melanoma. J Mol Diagn 2010;12:461–468.
Frizziero L, Midena E, Trainiti S, et al. Uveal melanoma biopsy: a review. Cancers 2019;11:1075.
Harbour JW, Paez-Escamilla M, Cai L, et al. Are risk factors for growth of choroidal nevi associated with malignant transformation? Assessment with a validated genomic biomarker. Am J Ophthalmol 2019;197:168–179.
Raval V, Luo S, Zabor EC, Singh AD. Small choroidal melanoma: correlation of growth rate with pathology. Ocul Oncol Pathol 2021;7:401–410.
Klufas MA, Itty S, McCannel CA, et al. Variable results for uveal melanoma-specific gene expression profile prognostic test in choroidal metastasis. JAMA Ophthalmol 2015;133:1073–1076.
Augsburger JJ, Skinner CC, Correa ZM. Comparative metastatic rates in GEP class 1A versus 1B posterior uveal melanoma: results contrary to expectations. Ocul Oncol Pathol 2023;8:242–249.
المشرفين على المادة: 0 (PRAME protein, human)
0 (Antigens, Neoplasm)
0 (Biomarkers, Tumor)
0 (Eukaryotic Initiation Factor-1)
0 (RNA Splicing Factors)
0 (eukaryotic peptide initiation factor-1A)
0 (BAP1 protein, human)
0 (SF3B1 protein, human)
0 (Phosphoproteins)
0 (Tumor Suppressor Proteins)
EC 3.4.19.12 (Ubiquitin Thiolesterase)
SCR Disease Name: Uveal melanoma
تواريخ الأحداث: Date Created: 20240821 Date Completed: 20240821 Latest Revision: 20240827
رمز التحديث: 20240828
DOI: 10.1097/IAE.0000000000004153
PMID: 39167579
قاعدة البيانات: MEDLINE
الوصف
تدمد:1539-2864
DOI:10.1097/IAE.0000000000004153