Angela Zupa, Giulia Vita, Ludmila Carmen Omer, Giovanni Calice, Raffele Conca, Giuseppina Improta
{"title":"黑色素瘤NRASQ61K/R/L突变等位基因频率及其与临床病理特征的相关性","authors":"Angela Zupa, Giulia Vita, Ludmila Carmen Omer, Giovanni Calice, Raffele Conca, Giuseppina Improta","doi":"10.21873/anticanres.17488","DOIUrl":null,"url":null,"abstract":"<p><strong>Background/aim: </strong>Approximately 80% of NRAS mutations in melanoma occur at codon 61, locking the NRAS protein into a GTP-bound state.We aimed to evaluate the mutant allele frequency (MAF) of <i>NRAS<sup>Q61R/K/L</sup></i> as a possible prognostic biomarker, expanding the classical histopathological prognostic criteria.</p><p><strong>Materials and methods: </strong>Twenty-six <i>NRAS<sup>Q61R/K/L</sup></i> mutated melanomas were analysed using next generation sequencing, to assess the possible correlation between MAF and clinicopathological characteristics.</p><p><strong>Results: </strong>A statistically significant difference (<i>p</i>-value <0.05) was found between the ratio of patients with MAF ≤30% (12/26, 46%) and MAF >30% (14/26, 54%). MAF ≤30% was more common in primary melanomas (10/12, 83.3%) and was also observed in patients with MAF >30%. Cases with MAF ≤30% had a higher percentage of Breslow's depth ≤1 mm (5/12, 41.7%) and a low Clark level (III) (6/12, 50%). Patients with MAF >30% and a high Clark level (V) showed a higher percentage (5/14, 57.2%). Nodular/epithelioid cell types were more frequently observed in MAF ≤30% (9/12, 75%) and MAF >30% (8/14, 57.2%) groups. A slightly higher number of MAF ≤30% cases were found with tumor cell percentages ranging from 11-40% (5/14, 41.7%), while MAF >30% cases were more common in patients with ≥71% tumor cells (9/14, 64.3%) and this difference was statistically significant.</p><p><strong>Conclusion: </strong>The MAF of <i>NRAS</i> was highly heterogeneous but was found to correlate with the percentage of tumor cells. To corroborate these data, the evaluation of <i>NRAS</i> MAF in a larger cohort of melanomas is necessary and fundamental.</p>","PeriodicalId":8072,"journal":{"name":"Anticancer research","volume":"45 3","pages":"1015-1024"},"PeriodicalIF":1.6000,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"<i>NRAS<sup>Q61K/R/L</sup></i> Mutant Allele Frequency in Melanoma and its Correlation With Clinicopathological Characteristics.\",\"authors\":\"Angela Zupa, Giulia Vita, Ludmila Carmen Omer, Giovanni Calice, Raffele Conca, Giuseppina Improta\",\"doi\":\"10.21873/anticanres.17488\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background/aim: </strong>Approximately 80% of NRAS mutations in melanoma occur at codon 61, locking the NRAS protein into a GTP-bound state.We aimed to evaluate the mutant allele frequency (MAF) of <i>NRAS<sup>Q61R/K/L</sup></i> as a possible prognostic biomarker, expanding the classical histopathological prognostic criteria.</p><p><strong>Materials and methods: </strong>Twenty-six <i>NRAS<sup>Q61R/K/L</sup></i> mutated melanomas were analysed using next generation sequencing, to assess the possible correlation between MAF and clinicopathological characteristics.</p><p><strong>Results: </strong>A statistically significant difference (<i>p</i>-value <0.05) was found between the ratio of patients with MAF ≤30% (12/26, 46%) and MAF >30% (14/26, 54%). MAF ≤30% was more common in primary melanomas (10/12, 83.3%) and was also observed in patients with MAF >30%. Cases with MAF ≤30% had a higher percentage of Breslow's depth ≤1 mm (5/12, 41.7%) and a low Clark level (III) (6/12, 50%). Patients with MAF >30% and a high Clark level (V) showed a higher percentage (5/14, 57.2%). Nodular/epithelioid cell types were more frequently observed in MAF ≤30% (9/12, 75%) and MAF >30% (8/14, 57.2%) groups. A slightly higher number of MAF ≤30% cases were found with tumor cell percentages ranging from 11-40% (5/14, 41.7%), while MAF >30% cases were more common in patients with ≥71% tumor cells (9/14, 64.3%) and this difference was statistically significant.</p><p><strong>Conclusion: </strong>The MAF of <i>NRAS</i> was highly heterogeneous but was found to correlate with the percentage of tumor cells. To corroborate these data, the evaluation of <i>NRAS</i> MAF in a larger cohort of melanomas is necessary and fundamental.</p>\",\"PeriodicalId\":8072,\"journal\":{\"name\":\"Anticancer research\",\"volume\":\"45 3\",\"pages\":\"1015-1024\"},\"PeriodicalIF\":1.6000,\"publicationDate\":\"2025-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Anticancer research\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.21873/anticanres.17488\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"ONCOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Anticancer research","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.21873/anticanres.17488","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"ONCOLOGY","Score":null,"Total":0}
NRASQ61K/R/L Mutant Allele Frequency in Melanoma and its Correlation With Clinicopathological Characteristics.
Background/aim: Approximately 80% of NRAS mutations in melanoma occur at codon 61, locking the NRAS protein into a GTP-bound state.We aimed to evaluate the mutant allele frequency (MAF) of NRASQ61R/K/L as a possible prognostic biomarker, expanding the classical histopathological prognostic criteria.
Materials and methods: Twenty-six NRASQ61R/K/L mutated melanomas were analysed using next generation sequencing, to assess the possible correlation between MAF and clinicopathological characteristics.
Results: A statistically significant difference (p-value <0.05) was found between the ratio of patients with MAF ≤30% (12/26, 46%) and MAF >30% (14/26, 54%). MAF ≤30% was more common in primary melanomas (10/12, 83.3%) and was also observed in patients with MAF >30%. Cases with MAF ≤30% had a higher percentage of Breslow's depth ≤1 mm (5/12, 41.7%) and a low Clark level (III) (6/12, 50%). Patients with MAF >30% and a high Clark level (V) showed a higher percentage (5/14, 57.2%). Nodular/epithelioid cell types were more frequently observed in MAF ≤30% (9/12, 75%) and MAF >30% (8/14, 57.2%) groups. A slightly higher number of MAF ≤30% cases were found with tumor cell percentages ranging from 11-40% (5/14, 41.7%), while MAF >30% cases were more common in patients with ≥71% tumor cells (9/14, 64.3%) and this difference was statistically significant.
Conclusion: The MAF of NRAS was highly heterogeneous but was found to correlate with the percentage of tumor cells. To corroborate these data, the evaluation of NRAS MAF in a larger cohort of melanomas is necessary and fundamental.
期刊介绍：
ANTICANCER RESEARCH is an independent international peer-reviewed journal devoted to the rapid publication of high quality original articles and reviews on all aspects of experimental and clinical oncology. Prompt evaluation of all submitted articles in confidence and rapid publication within 1-2 months of acceptance are guaranteed.
ANTICANCER RESEARCH was established in 1981 and is published monthly (bimonthly until the end of 2008). Each annual volume contains twelve issues and index. Each issue may be divided into three parts (A: Reviews, B: Experimental studies, and C: Clinical and Epidemiological studies).
Special issues, presenting the proceedings of meetings or groups of papers on topics of significant progress, will also be included in each volume. There is no limitation to the number of pages per issue.
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