Abstract No 244: SF3B1 and BAP1 Mutations Predict Survival Outcomes in Metastatic Uveal Melanoma Treated with Hepatic Artery Embolization
Researchers have identified two genetic mutations that may help predict overall survival for patients with metastatic uveal melanoma who receive hepatic artery embolization (HAE), according to a new study.
Chenyang Zhan, MD, PhD
Uveal melanoma is genomically distinct from other types of melanomas, according to Chenyang Zhan, MD, PhD, lead author of SF3B1 and BAP1 Mutations Predict Survival Outcomes in Metastatic Uveal Melanoma Treated with Hepatic Artery Embolization, one of the SIR 2025 Featured Abstracts.
“When it metastasizes, it most commonly spreads to the liver, does not respond well to checkpoint inhibitor immunotherapy and carries a poor prognosis,” said Dr. Zhan.
While liver-directed therapies like HAE are options for local disease control, it is currently unclear which patients may benefit most.
“There is a critical need to identify biomarkers that can predict which patients will respond better to locoregional therapies like HAE,” he said.
In their study, Dr. Zhan and his team aimed to identify genomic markers that could predict the response to HAE in patients with metastatic uveal melanoma in the liver. They reviewed outcomes data for 40 patients who received HAE and underwent genetic profiling between 2011 and 2024 and calculated their overall survival data by the date of embolization to the date of either last follow-up or death.
“We found that the presence of SF3B1 mutations and the absence of BAP1 mutations were associated with prolonged overall survival following HAE in this patient population,” said Dr. Zhan.
Patients with the SF3B1 mutation had an overall survival of 27.8 months—compared to 10.4 months for those without the mutation. Additionally, patients without BAP1 mutations had significantly lower 2-year survival (6.6%) compared to those who did (48%).
“While BAP1 mutations are associated with worse overall survival following embolization, they present an opportunity for developing adjuvant systemic therapies,” said Dr. Zhan. “Specifically, about one-third of BAP1 mutations are frame-shift mutations, which could serve as promising targets for neoantigen vaccine development.”
With the support of an SIR Foundation Pilot Research Grant, Dr. Zhan and his team are currently working on identifying and validating HLA-I restricted neoantigen targets to facilitate the development of novel personalized immunotherapies, such as neoantigen tumor vaccines, for use as adjuvant therapy following IR therapies.
While there are additional questions to be asked, Dr. Zhan said he feels that this study strongly demonstrates the potential of molecular diagnostics in risk stratification, especially in patients with metastatic uveal melanoma undergoing locoregional treatments such a HEA.
“As genomic sequencing becomes more widely available, interventional radiologists should increasingly explore the use of genomic markers to guide treatment selection, optimize combinations with systemic therapies and support the development of innovative therapeutics for various malignancies,” he said.
Dr. Zhan will present his findings at SIR 2025 on Tuesday, April 1, at 3.p.m. during the Interventional Oncology 3 session.
