Genetic alterations in RAS‐regulated pathway in acral lentiginous melanoma. Issue 2 (31st January 2013)

• Record Type: Journal Article
• Authors: Puig‐Butillé, Joan A.; Badenas, Celia; Ogbah, Zighereda; Carrera, Cristina; Aguilera, Paula; Malvehy, Josep; Puig, Susana
• Is Part Of: Experimental dermatology. Volume 22:Issue 2(2013:Feb.)
• Page Start: 148
• Page End: 150
• Publication Date: 2013-01-31
• Subjects: Dermatology -- Periodicals; 616.5
• DOI: 10.1111/exd.12080
• Languages: English
• ISSNs: 0906-6705

Abstract

<abstract abstract-type="main" xml:lang="en" id="exd12080-abs-0001"> <title>Abstract</title> <p>Studies integrating clinicopathological and genetic features have revealed distinct patterns of genomic aberrations in Melanoma. Distributions of <italic>BRAF</italic> or <italic>NRAS</italic> mutations and gains of several oncogenes differ among melanoma subgroups, while 9p21 deletions are found in all melanoma subtypes. In the study, status of genes involved in cell cycle progression and apoptosis was evaluated in a panel of 17 frozen primary acral melanomas. <italic>NRAS</italic> mutations were found in 17% of the tumors. In contrast, <italic>BRAF</italic> mutations were not found. Gains of <italic>AURKA</italic> gene (20q13.3) were detected in 37.5% of samples, gains of <italic>CCND1</italic> gene (11q13) or <italic>TERT</italic> gene (5p15.33) in 31.2% and gains of <italic>NRAS</italic> gene (1p13.2) in 25%. Alterations in 9p21 were identified in 69% of tumors. Gains of 11q13 and 20q13 were mutually exclusive, and 1p13.2 gain was associated with 5p15.33. Our findings showed that alterations in RAS‐related pathways are present in 87.5% of acral lentiginous melanomas.</p> </abstract>