KIT Mutation Incidence and Pattern of Melanoma in Central Europe

Doma, Viktória; Barbai, Tamás; Beleaua, Marius Alexandru; Kovalszky, Ilona; Rásó, Erzsébet; Tı́már, József

doi:10.1007/s12253-019-00788-w

Cited by 13 publications

(15 citation statements)

References 19 publications

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“…Inhibiting the expression of KIT could improve the prognosis of patients with cancer [ 41 , 42 ]. Studies have shown that in patients with melanoma, KIT variants could be classified as a rare subtype [ 43 , 44 ]. VWF is also important in the present research.…”

Section: Discussionmentioning

confidence: 99%

Identification of genes and pathways leading to metastasis and poor prognosis in melanoma

Zhang

Wang

et al. 2021

Aging

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Melanoma causes the highest mortality rate among all skin cancers. However, the underlying molecular mechanisms leading to metastasis and poor prognosis in melanoma have not been fully elucidated. In this study, the differentially expressed genes (DEGs) related to metastasis in melanoma were screened out. The results of gene annotation was combined with The Cancer Genome Atlas (TCGA) database. The microRNA (miRNA) network that regulates key genes and their correlation with BRAF V600E was preliminarily analyzed. Cell and molecular biology experiments were conducted to verify the results of bioinformatics analysis. Results showed that the PI3K-Akt signaling pathway contained the key genes CDK2 , CDK4 , KIT , and Von Willebrand factor . Survival analysis showed that high expression of the four key genes significantly reduced the survival rate of patients with melanoma. Correlation analysis showed that BRAF V600E may regulate the expression of the four key genes, and a total of 240 miRNAs may regulate this expression. Experiments showed that the inactivation of key genes inhibits the proliferation, migration, and invasion of melanoma. In conclusion, the PI3K-Akt signaling pathway and the four key genes promoted the proliferation, migration, and invasion of melanoma, and related to poor prognosis of patients with melanoma.

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Section: Discussionmentioning

confidence: 99%

Identification of genes and pathways leading to metastasis and poor prognosis in melanoma

Zhang

Wang

et al. 2021

Aging

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“…KIT (C-KIT/CD117) gene mutations show heterogeneous distribution through the gene and they have been detected in hot-spots at exon 9 (c459/465/ 471/483), 11 (c551/559/576), 13 (c642), and 17 (c816), accounting for 5-15% of mutations of diagnosed melanomas. In light of the relatively high mutation rate of KIT in cutaneous melanoma and since BRAF, KIT, and NRAS mutations appear to be mutually exclusive, the screening of KIT mutations, at least in exons 9/11/13, is suggested in BRAF/NRAS double-wild-type melanoma patients (31,34,45,46).…”

Section: Current Knowledge Of Genetic Alterations In Cutaneous Melanomamentioning

confidence: 99%

Cutaneous Melanoma Classification: The Importance of High-Throughput Genomic Technologies

Scatena

Murtas

Tomei³

2021

Front. Oncol.

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Cutaneous melanoma is an aggressive tumor responsible for 90% of mortality related to skin cancer. In the recent years, the discovery of driving mutations in melanoma has led to better treatment approaches. The last decade has seen a genomic revolution in the field of cancer. Such genomic revolution has led to the production of an unprecedented mole of data. High-throughput genomic technologies have facilitated the genomic, transcriptomic and epigenomic profiling of several cancers, including melanoma. Nevertheless, there are a number of newer genomic technologies that have not yet been employed in large studies. In this article we describe the current classification of cutaneous melanoma, we review the current knowledge of the main genetic alterations of cutaneous melanoma and their related impact on targeted therapies, and we describe the most recent high-throughput genomic technologies, highlighting their advantages and disadvantages. We hope that the current review will also help scientists to identify the most suitable technology to address melanoma-related relevant questions. The translation of this knowledge and all actual advancements into the clinical practice will be helpful in better defining the different molecular subsets of melanoma patients and provide new tools to address relevant questions on disease management. Genomic technologies might indeed allow to better predict the biological - and, subsequently, clinical - behavior for each subset of melanoma patients as well as to even identify all molecular changes in tumor cell populations during disease evolution toward a real achievement of a personalized medicine.

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“…Activating mutations in c-KIT are identified in approximately 15.6% of mucosal melanomas and 23% of acral melanomas and these numbers rises up to 39% and 36% respectively when KIT copy number increases [ 129 , 130 ]. c-KIT mutations are most commonly found in exons 9 and 11 [ 131 ]. Mutations in c-KIT can either activate or deactivate the receptor, causing varying downstream functional consequences in different cancers.…”

Section: C-kitmentioning

confidence: 99%

Resistance to Molecularly Targeted Therapies in Melanoma

Patel

Eckburg

Gantiwala

et al. 2021

Cancers

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Malignant melanoma is the most aggressive type of skin cancer with invasive growth patterns. In 2021, 106,110 patients are projected to be diagnosed with melanoma, out of which 7180 are expected to die. Traditional methods like surgery, radiation therapy, and chemotherapy are not effective in the treatment of metastatic and advanced melanoma. Recent approaches to treat melanoma have focused on biomarkers that play significant roles in cell growth, proliferation, migration, and survival. Several FDA-approved molecular targeted therapies such as tyrosine kinase inhibitors (TKIs) have been developed against genetic biomarkers whose overexpression is implicated in tumorigenesis. The use of targeted therapies as an alternative or supplement to immunotherapy has revolutionized the management of metastatic melanoma. Although this treatment strategy is more efficacious and less toxic in comparison to traditional therapies, targeted therapies are less effective after prolonged treatment due to acquired resistance caused by mutations and activation of alternative mechanisms in melanoma tumors. Recent studies focus on understanding the mechanisms of acquired resistance to these current therapies. Further research is needed for the development of better approaches to improve prognosis in melanoma patients. In this article, various melanoma biomarkers including BRAF, MEK, RAS, c-KIT, VEGFR, c-MET and PI3K are described, and their potential mechanisms for drug resistance are discussed.

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KIT Mutation Incidence and Pattern of Melanoma in Central Europe

Cited by 13 publications

References 19 publications

Identification of genes and pathways leading to metastasis and poor prognosis in melanoma

Identification of genes and pathways leading to metastasis and poor prognosis in melanoma

Cutaneous Melanoma Classification: The Importance of High-Throughput Genomic Technologies

Resistance to Molecularly Targeted Therapies in Melanoma

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