452 Molecular and histopathologic profiling of melanocytic nevi in patients with RASopathies

Melanocytic nevi are among the most common benign human neoplasms and are mimics, risk factors, and potential precursors for melanoma. Many drivers of melanoma and tumor progression have been identified, such as somatic mutations in the RAS pathway genes. It is also known that germline genetic variants influence nevus count in RASopathy patients. However, why nevi develop and why certain nevi undergo melanomagenesis remains largely unknown. This project aims to evaluate the role of RAS pathway germline mutations in nevogenesis and melanomagenesis by studying individuals with RASopathies, specifically cardio-facio-cutaneous (CFC) syndrome and Costello syndrome (CS) patients.

Source: Journal of Investigative Dermatology - July 20, 2022 Category: Dermatology Authors: E. Simmons, I. Rybak, J. Urban, J.D. McPherson, K.A. Rauen, M. Kiuru Source Type: research