Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis cafe au lait macules.

ABSTRACT:

Background

RASopathies, which include neurofibromatosis type 1 (NF1), are defined by Ras/mitogen-activated protein kinase (Ras/MAPK) pathway activation. They represent a group of clinically related disorders often characterised by multiple Café au Lait Macules (CALMs).

Objectives

To determine, using in depth transcriptomic analysis of NF1 melanocytes from CALM and unaffected skin, (1) the gene(s) responsible for melanocyte proliferation and migration, and (2) the activated signalling pathway(s) in NF1 melanoma.

Methods

Classical NF1 (n = 2, who develop tumours) and 3bp deletion NF1 (p. Met992del, who do not develop tumours) (n = 3) patients underwent skin biopsies from CALM and unaffected skin. Melanocytes were isolated and propagated, with five replicat

SUBMITTER: Lovatt C 

PROVIDER: S-EPMC11442068 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature