Purpose: Gain of chromosome 8q has been associated with poor prognosis in uveal melanoma (UM), and an increase in the absolute number of 8q-copies correlated with an even shorter survival. Splicing factor 3b subunit 1 ()-mutated () tumors display structural chromosomal anomalies and frequently show a partial gain of chromosome 8qter. A recent subset of UM with early-onset metastases has been identified, prompting the investigation of the relationship between survival, 8q gain, and UM.
Design: Retrospective cohort study.
Subjects: Patients diagnosed with UM who underwent enucleation or received a biopsy at the Erasmus MC Cancer Institute or the Rotterdam Eye Hospital, The Netherlands were included.
Methods: Fifty-nine patients with tumors and 211 patients with BRCA1 associated protein 1 ()-mutated () tumors were included in this study. Copy number status and gene expression were assessed using either a single nucleotide polymorphism array, fluorescence in situ hybridization, and karyotyping, or a combination of these techniques. Disease-free survival was determined and a cut-off of 60 months was used to define early-onset metastatic disease.
Main Outcome Measures: Disease-free survival.
Results: Forty-eight patients with UM (81%) had chromosome 8q gain (3 copies, 78%; 4 copies, 22%). Kaplan-Meier analysis of UM did not indicate a difference in survival in patients with or without gain of 8q ( = 0.99). Furthermore, the number of 8q copies was not associated with survival when comparing early ( = 0.97) versus late ( = 0.23) metastases group. In contrast, the presence of 8q gain (86%) was correlated with a decreased survival in UM ( = 0.013).
Conclusions: We did not find a correlation between 8q gain and early-onset metastasis in tumors. Gain of 8q has no additional predictive value in tumors. In contrast, 8q gain is predictive of a worse prognosis in patients with tumors. Thus, gain of chromosome 8q has additional predictive value for tumors, but not for tumors.
Financial Disclosures: The author(s) have no proprietary or commercial interest in any materials discussed in this article.
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| http://dx.doi.org/10.1016/j.xops.2023.100413 | DOI Listing |
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