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Association between traditional clinical high-risk features and gene expression profile classification in uveal melanoma

  • Oncology
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Abstract

Purpose

To evaluate the association between traditional clinical high-risk features of uveal melanoma patients and gene expression profile (GEP).

Methods

This was a retrospective, single-center, case series of patients with uveal melanoma. Eighty-three patients met inclusion criteria for the study. Patients were examined for the following clinical risk factors: drusen/retinal pigment epithelium (RPE) changes, vascularity on B-scan, internal reflectivity on A-scan, subretinal fluid (SRF), orange pigment, apical tumor height/thickness, and largest basal dimensions (LBD). A novel point system was created to grade the high-risk clinical features of each tumor. Further analyses were performed to assess the degree of association between GEP and each individual risk factor, total clinical risk score, vascularity, internal reflectivity, American Joint Committee on Cancer (AJCC) tumor stage classification, apical tumor height/thickness, and LBD.

Results

Of the 83 total patients, 41 were classified as GEP class 1A, 17 as class 1B, and 25 as class 2. The presence of orange pigment, SRF, low internal reflectivity and vascularity on ultrasound, and apical tumor height/thickness ≥ 2 mm were not statistically significantly associated with GEP class. Lack of drusen/RPE changes demonstrated a trend toward statistical association with GEP class 2 compared to class 1A/1B. LBD and advancing AJCC stage was statistically associated with higher GEP class.

Conclusions

In this cohort, AJCC stage classification and LBD were the only clinical features statistically associated with GEP class. Clinicians should use caution when inferring the growth potential of melanocytic lesions solely from traditional funduscopic and ultrasonographic risk factors without GEP data.

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Contributors

BN, RK, and AS: design of the work. BN, RK, EK, MB, and AS: data acquisition and analysis. BN, RK, MB, and AS: interpretation of data and drafting of manuscript.

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Authors and Affiliations

  1. Retina Consultants of Houston, 6560 Fannin Street, Suite 750, Houston, TX, 77030, USA

    Brandon T. Nguyen, Ryan S. Kim, Maria E. Bretana, Eric Kegley & Amy C. Schefler

  2. McGovern Medical School at the University of Texas Health Science Center, Houston, TX, USA

    Ryan S. Kim

  3. Blanton Eye Institute, Houston Methodist Hospital, Houston, TX, USA

    Amy C. Schefler

Authors
  1. Brandon T. Nguyen
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  2. Ryan S. Kim
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  3. Maria E. Bretana
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  4. Eric Kegley
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  5. Amy C. Schefler
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Corresponding author

Correspondence to Amy C. Schefler.

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Conflict of interest

All authors certify that they have no affiliations with or involvement in any organization or entity with any financial interest (such as honoraria; educational grants; participation in speakers’ bureaus; membership, employment, consultancies, stock ownership, or other equity interest; and expert testimony or patent-licensing arrangements), or non-financial interest (such as personal or professional relationships, affiliations, knowledge, or beliefs) in the subject matter or materials discussed in this manuscript.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

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For this type of study, formal consent is not required.

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Nguyen, B.T., Kim, R.S., Bretana, M.E. et al. Association between traditional clinical high-risk features and gene expression profile classification in uveal melanoma. Graefes Arch Clin Exp Ophthalmol 256, 421–427 (2018). https://doi.org/10.1007/s00417-017-3856-x

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  • DOI: https://doi.org/10.1007/s00417-017-3856-x

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