Loss of NF1 Accelerates Uveal and Intradermal Melanoma Tumorigenesis, and Oncogenic GNAQ Transforms Schwann Cells.

ABSTRACT:

Abstract

NF1 encodes the multifunctional tumor suppressor protein, neurofibromin, which is best known for its causative role in neurofibromatosis type 1 and in regulating MAPK signaling. Neurofibromin, in a context-specific manner, is involved in various tumorigenic processes, including those in melanocytes. This study investigated whether NF1 loss can collaborate with oncogenic GNAQ to promote melanoma in the dermis or eyes, in which the Gαq pathway is almost always activated. We found that heterozygous 17q11.2 loss that includes the NF1 locus is a recurrent phenomenon in human intradermal and uveal melanomas described in the literature. We studied the effects of Nf1 haploinsufficiency in mice expressing oncogenic GNAQQ209L in melanocytes and Schwann cells of peripheral nerves usi

SUBMITTER: Longakit AN 

PROVIDER: S-EPMC11788999 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature