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Correlation between BAP1 Localization, Driver Mutations, and Patient Survival in Uveal Melanoma
Yasemin C Cole1, Yu-Zhi Zhang1,2, Beatrice Gallo3
1National Heart and Lung Institute, Imperial College London, London SW3 6LR, UK.
Cancers
|September 9, 2022
Summary
Loss of nuclear BAP1 (nBAP1) in uveal melanoma (UM) tumors, particularly a ≥25% reduction, is a strong prognostic indicator. This finding aids in predicting survival for this aggressive eye cancer.
Area of Science:
- Ophthalmology
- Oncology
- Genetics
Background:
- Uveal melanoma (UM) is a rare but aggressive eye cancer.
- Poor survival in UM is linked to BAP1 alterations and monosomy 3 (LOH3).
Purpose of the Study:
- To investigate the prognostic value of BAP1 alterations and cellular localization in UM.
- To correlate BAP1 staining with mutations in key UM driver genes.
Main Methods:
- Sequencing of UM driver genes (BAP1, SF3B1, EIF1AX, GNAQ, GNA11) in 100 UM patients.
- Immunohistochemistry for BAP1 and FISH for chromosomes 3 and 8.
- Correlation of BAP1 cellular localization (nuclear vs. cytoplasmic) with mutation status.
Main Results:
- ≥25% loss of nuclear BAP1 (nBAP1) outperformed chr8q and LOH3 as a prognostic indicator.
- Mutations were common in GNA11 (38%), GNAQ (48%), BAP1 (39%), EIF1AX (11%), and SF3B1 (20%).
- Most BAP1 mutations correlated with ≥25% loss of nBAP1 and increased cytoplasmic BAP1 (cBAP1).
Conclusions:
- Loss of nBAP1 is a significant prognostic marker in uveal melanoma.
- BAP1 cellular localization provides valuable prognostic information, especially in conjunction with genetic analysis.
