BAP1 methylation: a prognostic marker of uveal melanoma metastasis

Mathieu F Bakhoum; Ellis J Curtis; Michael H Goldbaum; Paul S Mischel

doi:10.1038/s41698-021-00226-8

BAP1 methylation: a prognostic marker of uveal melanoma metastasis

NPJ Precis Oncol. 2021 Sep 30;5(1):89. doi: 10.1038/s41698-021-00226-8.

Authors

Mathieu F Bakhoum^{1

2}, Ellis J Curtis^{3

4

5}, Michael H Goldbaum⁶, Paul S Mischel^{7

8}

Affiliations

¹ Department of Ophthalmology and Visual Science, Yale University School of Medicine, New Haven, CT, USA. [email protected].
² Department of Ophthalmology, University of California San Diego, La Jolla, CA, USA. [email protected].
³ School of Medicine, University of California San Diego, La Jolla, CA, USA.
⁴ Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.
⁵ ChEM-H, Stanford University, Stanford, CA, USA.
⁶ Department of Ophthalmology, University of California San Diego, La Jolla, CA, USA.
⁷ Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA. [email protected].
⁸ ChEM-H, Stanford University, Stanford, CA, USA. [email protected].

Abstract

Uveal melanoma, the most common intraocular primary cancer in adults, is characterized by striking variability in metastatic tendencies. BAP1 deletion in the primary tumor is associated with uveal melanoma metastasis, but it cannot always be resolved by bulk DNA sequencing of heterogeneous tumors. Here, we show that assessment of BAP1 methylation is an accurate and readily clinically actionable assay to accurately identify high-risk uveal melanoma patients.

Grants and funding

R01 NS073831/NS/NINDS NIH HHS/United States