Clinical, Histopathological, Dermoscopic Features, and BRAF, NRAS, and Cell Cycle Genes’ Mutation Status in Cutaneous Melanoma

<b>Background/Objectives</b>: The clinical, histopathological, and dermoscopic features may be associated with melanoma mutational status. The aims of the study were to assess the clinical, histopathological, and dermoscopic features of melanoma to identify their correlation with <i>BRAF</i>, <i>NRAS</i>, and cell cycle genes' mutational status in melanoma. <b>Methods</b>: The clinical, histopathological information, dermoscopic images, and genomic DNA of 55 histopathologically diagnosed primary cutaneous melanomas were retrospectively analyzed. Next-generation sequencing (NGS) assays were conducted on the Ion GeneStudio S5 platform (Thermo Fisher Scientific, Waltham, MA, USA), using the Ion AmpliSeq™ Italian Melanoma Intergroup Somatic Panel. <b>Results</b>: Overall, 55 melanomas, including 30 superficial spreading, 24 nodular, and 1 naevoid, were analyzed. <i>BRAF</i> mutation was more frequently observed in ulcerated melanoma (16/23; 69.6%), with mitotic rate ≥ 5 n/mm<sup>2</sup> (8/11; 72.7%), while <i>NRAS</i> mutation was more common in amelanotic/hypomelanotic (8/17; 70.0%) and nodular melanoma (10/24; 41.7%). Dermoscopically, shiny white structures (OR = 3.50; 95% confidence interval: 1.13-10.84) were associated with <i>BRAF</i>-mutated melanomas, whereas a homogeneous disorganized pattern was associated with <i>NRAS</i>-mutated melanomas (OR = 6.96; 1.49-32.53). The risk of diagnosing cell cycle gene-mutated melanomas was significantly increased in presence of vascular patterns (OR = 4.50; 1.33-15.20), linear irregular (OR = 3.75; 1.18-11.92), polymorphous vessels (OR = 4.05; 1.27-12.97), and milky red globules/areas (OR = 3.14; 1.00-9.89). The blue-white veil was significantly associated with P53 mutation (OR = 35.84; 2.01-640.2). <b>Conclusions</b>: Conversely to <i>Wild Type</i>, <i>BRAF</i>, <i>NRAS</i>, and cell cycle gene-mutated melanomas were significantly associated with clinical and dermoscopic features underlying a more aggressive melanoma phenotype. The vascular pattern, linear irregular, polymorphous vessels, and milky-red globules/areas may be considered predictors of cell cycle mutated melanomas.

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Publication Details

Journal
Cancers
Published
2025-08-19
DOI
https://doi.org/10.3390/cancers17162688
Citations
1
Primary Topic
Cutaneous Melanoma Detection and Management
Type
article
Field-Weighted Citation Impact
1.05

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article

Clinical, Histopathological, Dermoscopic Features, and BRAF, NRAS, and Cell Cycle Genes’ Mutation Status in Cutaneous Melanoma

Vincenzo Canzonieri, M. Lombardo, Giuseppe Palmieri, Panagiotis Paliogiannis et al.
1 citations
Cancers
Cutaneous Melanoma Detection and Management
1.05
article

Clinical, Histopathological, Dermoscopic Features, and BRAF, NRAS, and Cell Cycle Genes’ Mutation Status in Cutaneous Melanoma

Vincenzo Canzonieri, M. Lombardo, Giuseppe Palmieri, Panagiotis Paliogiannis, Antonio Cossu, Fabio Puglisi, Maria Teresa Corradin, Daniela Massi, Paola Corsetti, Maria Cristina Sini, Antonella Manca, Mattia Garutti, Giovanna Moretti, Stefano Astorino, Serena Bonin, Caterina Pinzani, Marisa Falduto, Ignazio Stanganelli, Sara Simi, Maria Antonietta Pizzichetta, Paola Pasquini, Jerry Polesel, Sandro Sulfaro, Michele Cerati, Giovanni B. Maestrale
article en
1 citations

Abstract

<b>Background/Objectives</b>: The clinical, histopathological, and dermoscopic features may be associated with melanoma mutational status. The aims of the study were to assess the clinical, histopathological, and dermoscopic features of melanoma to identify their correlation with <i>BRAF</i>, <i>NRAS</i>, and cell cycle genes' mutational status in melanoma. <b>Methods</b>: The clinical, histopathological information, dermoscopic images, and genomic DNA of 55 histopathologically diagnosed primary cutaneous melanomas were retrospectively analyzed. Next-generation sequencing (NGS) assays were conducted on the Ion GeneStudio S5 platform (Thermo Fisher Scientific, Waltham, MA, USA), using the Ion AmpliSeq™ Italian Melanoma Intergroup Somatic Panel. <b>Results</b>: Overall, 55 melanomas, including 30 superficial spreading, 24 nodular, and 1 naevoid, were analyzed. <i>BRAF</i> mutation was more frequently observed in ulcerated melanoma (16/23; 69.6%), with mitotic rate ≥ 5 n/mm<sup>2</sup> (8/11; 72.7%), while <i>NRAS</i> mutation was more common in amelanotic/hypomelanotic (8/17; 70.0%) and nodular melanoma (10/24; 41.7%). Dermoscopically, shiny white structures (OR = 3.50; 95% confidence interval: 1.13-10.84) were associated with <i>BRAF</i>-mutated melanomas, whereas a homogeneous disorganized pattern was associated with <i>NRAS</i>-mutated melanomas (OR = 6.96; 1.49-32.53). The risk of diagnosing cell cycle gene-mutated melanomas was significantly increased in presence of vascular patterns (OR = 4.50; 1.33-15.20), linear irregular (OR = 3.75; 1.18-11.92), polymorphous vessels (OR = 4.05; 1.27-12.97), and milky red globules/areas (OR = 3.14; 1.00-9.89). The blue-white veil was significantly associated with P53 mutation (OR = 35.84; 2.01-640.2). <b>Conclusions</b>: Conversely to <i>Wild Type</i>, <i>BRAF</i>, <i>NRAS</i>, and cell cycle gene-mutated melanomas were significantly associated with clinical and dermoscopic features underlying a more aggressive melanoma phenotype. The vascular pattern, linear irregular, polymorphous vessels, and milky-red globules/areas may be considered predictors of cell cycle mutated melanomas.

CancersVol. 17(16)
University of Parma (IT), University of Udine (IT), University of Trieste (IT), University of Sassari (IT), Ospedale di Cattinara (IT), Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IT), Azienda Ospedaliero Universitaria di Sassari (IT), Azienda Ospedaliera Santa Maria Degli Angeli (IT), Institute of Genetic and Biomedical Research (IT), Centro di Riferimento Oncologico (IT), San Gallicano Hospital (IT), Technological Institute of Celaya (MX), Fondazione Audiologica Varese (IT), Istituti di Ricovero e Cura a Carattere Scientifico (IT), Azienda Ospedaliera Ospedali Riuniti Papardo Piemonte (IT), University of Florence (IT)
Ministero della Salute, Regione Autonoma della Sardegna
Openalex Percentile: Top 19%
Cutaneous Melanoma Detection and Management
1.05
DOIOpen Access PDFOpenAlex
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