Gene Expression Profiling Prognostication of Posterior Uveal Melanoma

Binkley, Elaine M.; Bena, James; Davanzo, Jacquelyn M.; Hinz, Connie J.; Boldt, H. Culver; Singh, Arun D.

doi:10.1016/j.oret.2019.12.020

Cited by 24 publications

(18 citation statements)

References 21 publications

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“…Multiple risk factors have been identified to be associated with recurrence and/or metastatic risk in UM. In line with recent study results, size parameters such as LBD and AJCC stage were significantly associated with GEP and with the development of metastasis [12][13][14]. The results of the present study suggest that Class 1A UM should be further stratified by size parameters such as AJCC stage, COMS size, or LBD to warrant a more accurate assessment of recurrence and/or metastatic risk.…”

Section: Discussionsupporting

confidence: 91%

“…Moreover, to smooth our analysis of anatomic location, it was necessary to collapse tumors with overlapping anatomic sites as follows: ciliochoroidal tumors were classified as choroidal, and iridociliochoroidal tumors were classified as the ciliary body. Despite these limitations, our study demonstrated the impact of size parameters such as AJCC stage and tumor size for improving metastatic risk assessment of Class 1A tumors in UM, which is line with previous findings that tumor size plays a role in the prognostication of low-risk UM [12,24].…”

Section: Discussionsupporting

confidence: 90%

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Metastatic Risk Factors Associated with Class 1A Uveal Melanoma Patients

Ballhausen

Urias

Gruschkus

et al. 2021

Cancers

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In uveal melanoma (UM), gene expression profiling (GEP) is commonly used to classify metastatic risk into three groups (Class 1A, 1B, and 2). Class 1A patients have a lower metastatic risk of 2% at 5 years compared to other groups. We aimed to describe clinical features associated with the development of metastasis in this low-risk group. This single-center IRB-approved retrospective case series review included all UM patients between February 2006 and March 2019 with an archived or fresh specimen classified as Class 1A. Cox regression and receiver operating characteristics analyses were used to identify factors associated with metastasis development and OS. Among 73 UM patients with Class 1A, the 5-year cumulative incidence of local recurrence and distant metastasis was 4.2% and 17.0%, respectively. Stage III disease (HR 20.7; 95% confidence interval (95% CI) 1.4–300.6; p = 0.0264) was found to be independently associated with metastatic recurrence, while primary therapy was associated with OS (enucleation vs. brachytherapy, HR 13.5; 95% CI 1.3–147.6; p = 0.0348). Combined clinical decision-making utilizing factors such as GEP class, American Joint Committee on Cancer (AJCC) stage, and COMS size could have a significant clinical impact by improving risk stratification and adapting follow-up intervals in UM Class 1A patients.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionsupporting

confidence: 90%

Metastatic Risk Factors Associated with Class 1A Uveal Melanoma Patients

Ballhausen

Urias

Gruschkus

et al. 2021

Cancers

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“…Another option to predict the risk of metastasis is gene expression profiling (GEP) of 15 genes. GEP differentiates class 1 (low-risk) and class 2 (high-risk) tumors, with a five-year risk of metastasis of ~4% for GEP class 1 and ~51% for GEP class 2 tumors [ 35 , 36 ]. GEP class 1 tumors mainly contain tumors with disomy 3 and EIF1AX or SF3B1 mutations, where monosomy 3 tumors with BAP1 mutations are mainly classified as GEP class 2 tumors.…”

Section: Genetic Biomarkers At Initial Diagnosis Of the Primary Tumentioning

confidence: 99%

Genetic Biomarkers in Melanoma of the Ocular Region: What the Medical Oncologist Should Know

Bol

Donia

Heegaard

et al. 2020

IJMS

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Melanoma of the ocular region (ocular melanoma) comprises about 5% of all patients with melanoma and covers posterior uveal melanoma, iris melanoma, and conjunctival melanoma. The risk of metastasis is much higher in patients with ocular melanoma compared to a primary melanoma of the skin. The subtypes of ocular melanoma have distinct genetic features, which should be taken into consideration when making clinical decisions. Most relevant for current practice is the absence of BRAF mutations in posterior uveal melanoma, although present in some iris melanomas and conjunctival melanomas. In this review, we discuss the genetic biomarkers of the subtypes of ocular melanoma and their impacts on the clinical care of these patients.

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“…There is a significant disconnect in the literature wherein pathology-confirmed cases [18, 20, 21, 28, 30-32] or tumors with metastatic potential [33-35] do not have associated reported growth rates (with a few exceptions [Table 2]) [6, 19], and the studies with growth rates do not include tumors with pathologic confirmation (without exception) [3, 4, 11, 14]. Therefore, we could extract data regarding growth rates only in 2 pathologic studies [6, 19].…”

Section: Discussionmentioning

confidence: 99%

Small Choroidal Melanoma: Correlation of Growth Rate with Pathology

Raval¹,

Luo²,

Zabor³

et al. 2021

Ocul Oncol Pathol

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Purpose: The aim of the study was to evaluate equivalence of growth rate and pathologic confirmation in small choroidal melanoma (SCM). Design: This study is a case series. Subjects, Participants, and Controls: A total of 61 patients with a choroidal melanocytic tumor of size 5.0–16.0 mm in the largest basal diameter and 1.0–2.5 mm in thickness were classified into the pathology-confirmed group (n = 19), growth-confirmed group (n = 30), and with combined observations (n = 12). Methods: Distribution of clinical variables (age, gender, laterality, tumor dimensions, tumor location, and presence of orange pigment, subretinal fluid, drusen, and retinal pigment epithelial [RPE] atrophy) between the groups was analyzed. Patient and disease characteristics were summarized as the median and interquartile range for continuous variables and the frequency and percentage for categorical variables. Comparisons were made using the Wilcoxon rank sum test for continuous variables and either Fisher’s exact test or the χ2 test for categorical variables with a p value threshold of 0.05 for statistical significance. Growth rate (change in basal dimension/12 months) diagnostic of SCM was quantified. Main Outcome Measures: The primary aim of this study was to test the hypothesis that “growth” was diagnostic of SCM with the secondary aim of quantifying the malignant “growth rate” (growth rate of SCM). Results: The clinical characteristics among all 3 groups were similar except more patients with symptoms (68 vs. 20 vs. 42%, p = 0.004) and juxtapapillary location (p = 0.03) were in the pathology group than in the growth-confirmed group. Those in the combined and growth-confirmed groups had more patients with drusen (11 vs. 60 vs. 50%, p = 0.003) and RPE atrophy (11 vs. 23 vs. 67%, p = 0.003), respectively, than in the pathology group. The median time to detect growth was 9 months (range 3–26 months). The mean growth rate in basal dimension was 1.8 mm/12 months (range, 0.0–7.4 mm; [95% CI: 1.32–2.28]). Conclusions and Relevance: Choroidal melanocytic lesions exhibiting a defined growth rate can be clinically diagnosed as SCM without a need for biopsy.

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Gene Expression Profiling Prognostication of Posterior Uveal Melanoma

Cited by 24 publications

References 21 publications

Metastatic Risk Factors Associated with Class 1A Uveal Melanoma Patients

Metastatic Risk Factors Associated with Class 1A Uveal Melanoma Patients

Genetic Biomarkers in Melanoma of the Ocular Region: What the Medical Oncologist Should Know

Small Choroidal Melanoma: Correlation of Growth Rate with Pathology

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