Clinical and genetic characteristics of BAP1-mutated non-uveal and uveal melanoma.
Front Immunol
; 15: 1383125, 2024.
Article
in En
| MEDLINE
| ID: mdl-38903495
ABSTRACT
Background:
Screening for gene mutations has become routine clinical practice across numerous tumor entities, including melanoma. BAP1 gene mutations have been identified in various tumor types and acknowledged as a critical event in metastatic uveal melanoma, but their role in non-uveal melanoma remains inadequately characterized.Methods:
A retrospective analysis of all melanomas sequenced in our department from 2014-2022 (n=2650) was conducted to identify BAP1 mutated samples. Assessment of clinical and genetic characteristics was performed as well as correlations with treatment outcome.Results:
BAP1 mutations were identified in 129 cases and distributed across the entire gene without any apparent hot spots. Inactivating BAP1 mutations were more prevalent in uveal (55%) compared to non-uveal (17%) melanomas. Non-uveal BAP1 mutated melanomas frequently exhibited UV-signature mutations and had a significantly higher mutation load than uveal melanomas. GNAQ and GNA11 mutations were common in uveal melanomas, while MAP-Kinase mutations were frequent in non-uveal melanomas with NF1, BRAF V600 and NRAS Q61 mutations occurring in decreasing frequency, consistent with a strong UV association. Survival outcomes did not differ among non-uveal melanoma patients based on whether they received targeted or immune checkpoint therapy, or if their tumors harbored inactivating BAP1 mutations.Conclusion:
In contrast to uveal melanomas, where BAP1 mutations serve as a significant prognostic indicator of an unfavorable outcome, BAP1 mutations in non-uveal melanomas are primarily considered passenger mutations and do not appear to be relevant from a prognostic or therapeutic perspective.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Uveal Neoplasms
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Tumor Suppressor Proteins
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Ubiquitin Thiolesterase
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Melanoma
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Mutation
Limits:
Adult
/
Aged
/
Aged80
/
Female
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Humans
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Male
/
Middle aged
Language:
En
Journal:
Front Immunol
Year:
2024
Document type:
Article
Affiliation country:
Country of publication: