Melanoma subtypes: genomic profiles, prognostic molecular markers and therapeutic possibilities

Rabbie, Roy; Ferguson, Peter M.; Molina‐Aguilar, Christian; Adams, David J.; Robles‐Espinoza, Carla Daniela

doi:10.1002/path.5213

Cited by 148 publications

(170 citation statements)

References 137 publications

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“…In addition, SF3B1 mutations were identified in three patients (Figure a). The two mucosal melanoma cases appeared to have the SF3B1 hotspot R625C mutation (Harbour et al, ) (Table ), which was previously reported by others in cutaneous and uveal melanomas (Cancer Genome Atlas, ; Hayward et al, ; Rabbie, Ferguson, Molina‐Aguilar, Adams, & Robles‐Espinoza, ). One SF3B1 mutation in mucosal melanoma co‐occurred with KIT L576P and HRAS G13S mutations, while the other SF3B1 mutation was found in a BRAF‐, KIT‐, RAS ‐triple wild‐type sample, in line with the prior finding that SF3B1 mutations mark an independent set of driver genes and pathways in mucosal melanoma (Hayward et al, ).…”

Section: Resultssupporting

confidence: 56%

Distinct genomic traits of acral and mucosal melanomas revealed by targeted mutational profiling

Zou

Ou²,

Ren

et al. 2020

Pigment Cell Melanoma Res

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The incidence of melanoma is rising globally including China. Comparing to Caucasians, the incidence of non‐cutaneous melanomas is significantly higher in Chinese. Herein, we performed genomic profiling of 89 Chinese surgically resected primary melanomas, including acral (n = 54), cutaneous (n = 22), and mucosal (n = 13), by hybrid capture‐based next‐generation sequencing. We show that mucosal melanomas tended to harbor more pathogenic mutations than other types of melanoma, though the biological significance of this finding remains uncertain. Chromosomal arm‐level alterations including 6q, 9p, and 10p/q loss were highly recurrent in all subtypes, but mucosal melanoma was significantly associated with increased genomic instability. Importantly, 7p gain significantly correlated with unfavorable clinical outcomes in non‐cutaneous melanomas, representing an intriguing prognostic biomarker of those subtypes. Furthermore, focal amplification of 4q12 (KIT, KDR, and PDGFRα) and RAD51 deletion were more abundant in mucosal melanoma, while NOTCH2 amplification was enriched in acral melanoma. Additionally, cutaneous melanomas had higher mutation load than acral melanomas, while mucosal melanomas did not differ from other subtypes in mutation burden. Together, our data revealed important features of acral and mucosal melanomas in Chinese including distinctive driver mutation pattern and increased genomic instability. These findings highlight the possibilities of combination therapies in the clinical management of melanoma.

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Section: Resultssupporting

confidence: 56%

Distinct genomic traits of acral and mucosal melanomas revealed by targeted mutational profiling

Zou

Ou²,

Ren

et al. 2020

Pigment Cell Melanoma Res

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show abstract

“…Indeed, during the K562-based preliminary screening, they were interesting candidates for a multifunctional approach, exhibiting, in addition to anti-oxidant activity, cell growth inhibitory and pro-apoptotic activity. This has the potential to have a significant impact, also when considering the known skin tumorigenesis inhibition of hesperidin [44], which drives attention towards this, and related compounds, as a possible preventive agent in the treatment of some human pathologies, such as UV induced neoplastic diseases [45], squamous cell carcinoma (SCC) [46], malignant melanomas [47], non-melanoma skin tumors [48], and psoriasis-associated skin cancers [49]. In this context, hesperidin derivatives should be tested on the several "in vitro" experimental model systems available for these pathologies [50,51], as well as on "in vivo" mouse models for skin cancers [52,53].…”

Section: Resultsmentioning

confidence: 99%

Novel Lipidized Derivatives of the Bioflavonoid Hesperidin: Dermatological, Cosmetic and Chemopreventive Applications

et al. 2018

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Hesperidin is one of the most important natural flavonoids, known for its antioxidant, anti-inflammatory, anti-mutagenic, and anti-hypertensive properties. Despite its various biological activities, hesperidin is rarely used in the dermo-cosmetic field because of its poor solubility in both water and oil phases that makes difficult formulation, distribution and bioavailability through the skin layers. Moreover, hesperidin is still underestimated in skin care products, and literature data on its stability into a topical formulation are not yet available. In this paper we report the synthesis of five different derivatives of hesperidin and their evaluation in terms of antioxidant, antifungal, antiproliferative, and apoptotic effects on human leukemic K562 cells. Preliminary antiproliferative effects were considered since hyper-proliferation is involved in several cutaneous problems particularly in the case of photo-exposition and environmental pollution. Esp4 and Esp5 were found to be more active in inhibiting K562 cell growth than parent hesperidin. Esp3 exhibited different biological properties, i.e., antioxidant activity in the absence of antiproliferative effects.

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“…Previous studies have identified several genetic markers associated with the outcome of melanoma (12) , such as BRAF, GNA11, BAP1, EIF1AX, SF3B1, and…”

Section: Discussionmentioning

confidence: 99%

A new genetic method to predict the prognostic outcome of melanoma

Qing

2020

Preprint

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Cutaneous melanoma is quite often encountered in dermato-oncology. This paper describes a new genetic method to predict the prognostic outcome of melanoma.Data were collected from the TCGA databases. According to tumor progression status, the data were divided into two groups to evaluate the significant biological processes and key genes influencing the outcome of melanoma using a bioinformatics method. By adopting a statistical regression analysis method, a novel score based on the contributing genes was developed. Cox regression analysis was used to validate the effectiveness of the genetic risk score in predicting the outcome.Seven biological processes associated with melanocytes were identified. A protein-protein interactions network showed that 27 functional genes were associated with the outcome of melanoma. Among these, three genes (COL17A1, ITGA6, and SPRR2F) were used to calculate the genetic risk score, which was regarded as an independent and effective risk factor for disease progression or overall survival in melanoma.

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Melanoma subtypes: genomic profiles, prognostic molecular markers and therapeutic possibilities

Cited by 148 publications

References 137 publications

Distinct genomic traits of acral and mucosal melanomas revealed by targeted mutational profiling

Distinct genomic traits of acral and mucosal melanomas revealed by targeted mutational profiling

Novel Lipidized Derivatives of the Bioflavonoid Hesperidin: Dermatological, Cosmetic and Chemopreventive Applications

A new genetic method to predict the prognostic outcome of melanoma

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