Involvement of mutant and wild-type CYSLTR2 in the development and progression of uveal nevi and melanoma.

ABSTRACT:

Background

Activating Gα_q signalling mutations are considered an early event in the development of uveal melanoma. Whereas most tumours harbour a mutation in GNAQ or GNA11, CYSLTR2 (encoding G-protein coupled receptor CysLT₂R) forms a rare alternative. The role of wild-type CysLT₂R in uveal melanoma remains unknown.

Methods

We performed a digital PCR-based molecular analysis of benign choroidal nevi and primary uveal melanomas. Publicly available bulk and single cell sequencing data were mined to further study mutant and wild-type CYSLTR2 in primary and metastatic uveal melanoma.

Results

1/16 nevi and 2/120 melanomas carried the CYSLTR2 mutation. The mutation was found in a subpopulation of the nevus, while being clonal in both melanom

SUBMITTER: Nell RJ 

PROVIDER: S-EPMC7885466 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature