Analysis of mutations in cutaneous squamous cell carcinoma reveals novel genes and mutations associated with patient-specific characteristics and metastasis: a systematic review

Lobl, Marissa; Clarey, Dillon; Schmidt, Cynthia; Wichman, Christopher; Wysong, Ashley

doi:10.1007/s00403-021-02213-2

Cited by 11 publications

(15 citation statements)

References 47 publications

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“…As a result, these factors have potential applicability as therapeutic targets for a variety of tumors, such as colorectal cancer ( Tsoi et al, 2017 ), cervical cancer ( Zhou et al, 2016 ), and thyroid cancer ( Guimaraes and Zavolan, 2016 ). As an important protein enzyme affecting the process of ribosome synthesis, MDN1 has been found to be mutated in a few cancers, such as colorectal cancer ( Zaoqu Liu et al, 2021 ) and SCC of the skin ( Lobl et al, 2021 ), and may act as a driver gene to promote the occurrence and development of cancer. In BRCA, MDN1 has a high mutation rate of 2.77%.…”

Section: Discussionmentioning

confidence: 99%

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MDN1 Mutation Is Associated With High Tumor Mutation Burden and Unfavorable Prognosis in Breast Cancer

Hao

et al. 2022

Front. Genet.

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Background: Breast cancer (BRCA) is the most common cancer worldwide and a serious threat to human health. MDN1 mutations have been observed in several cancers. However, the associations of MDN1 mutation with tumor mutation burden (TMB) and prognosis of BRCA have not been investigated.Methods: Genomic, transcriptomic, and clinical data of 973 patients with BRCA from The Cancer Genome Atlas (TCGA) database were analyzed. The clinical attributes of BRCA based on the MDN1 mutation status were assessed by comparing TMB and tumor infiltrating immune cells. Gene ontology analysis and gene set enrichment analysis (GSEA) were conducted to identify the key signaling pathways associated with MDN1 mutation. Moreover, univariate and multivariate Cox regression analyses were performed to assess the association between prognostic factors and survival outcomes. Finally, nomograms were used to determine the predictive value of MDN1 mutation on clinical outcomes in patients with BRCA.Results: MDN1 was found to have a relatively high mutation rate (2.77%). Compared to the MDN1 wild-type patients, the TMB value was significantly higher in MDN1 mutant patients (p < 0.001). Prognostic analysis revealed that MDN1 mutant patients had a worse survival probability than MDN1 wild-type patients (hazard ratio = 2.91; 95% CI:1.07–7.92; p = 0.036). GSEA revealed samples with MDN1 mutation enriched in retinol metabolism, drug metabolism cytochrome P450, glucuronidation, miscellaneous transport, and binding event pathways.Conclusion: MDN1 mutation was found to be associated with high TMB and inferior prognosis, suggesting that MDN1 mutation may play a potential role in prognosis prediction and immunotherapy guidance in BRCA.

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Section: Discussionmentioning

confidence: 99%

“…Based on their findings, MDN1 was found to be one of the mutations in more than 25% of SCCs, which indicates a potential applicability in targeted therapy. ( Lobl et al, 2021 ). However, the relationship between MDN1 mutation and BRCA has not been reported to date.…”

Section: Introductionmentioning

confidence: 99%

MDN1 Mutation Is Associated With High Tumor Mutation Burden and Unfavorable Prognosis in Breast Cancer

Hao

et al. 2022

Front. Genet.

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“…Thirty-eight percent of articles focused on somatic gene mutations or mRNA/protein expression within cSCC tumors in ISPs ( Tables 1 and 2 ). The CDKN2A gene encodes both p14 ARF and p16 INK4A and is commonly mutated in cSCC ( Lobl et al., 2021 ). These proteins act as tumor suppressor genes and regulators of the p53 and Rb pathways, respectively.…”

Section: Discussionmentioning

confidence: 99%

“…Genetic and epigenetic alterations between cSCC arising in OTRs and ICPs may contribute to the differences in the behavior of cSCC in these groups. In cSCC in ICPs, classic mutational signatures exist, such as mutations in NOTCH1/2/4 , CDKN2A , and P53 ( Li et al., 2015 ; Lobl et al., 2021 ). These mutations may also be present in the OTR population, but the prevalence of these mutations in the OTR population remains to be elucidated.…”

Section: Introductionmentioning

confidence: 99%

Cutaneous Squamous Cell Carcinoma Arising in Immunosuppressed Patients: A Systematic Review of Tumor Profiling Studies

et al. 2022

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“…CHUK encodes IκB kinase α, which is involved in NFκB signaling [ 50 ]. Furthermore, comparison of the mutation status of local and metastatic cSCC revealed that mutations in TP53 , CDKN2A , and TERT genes are more common in metastatic than in local cSCCs [ 51 ]. On the other hand, mutations in SPEN , MLL3 , NOTCH2 , MLL2 , CREBBP , SPTA1 , NF1 , and EP300 are detected more often in local cSCCs [ 51 ].…”

Section: Cutaneous Squamous Cell Carcinomamentioning

confidence: 99%

The Role of p53 in Progression of Cutaneous Squamous Cell Carcinoma

Piipponen

Riihilä

Nissinen

et al. 2021

Cancers

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Skin cancers are the most common types of cancer worldwide, and their incidence is increasing. Melanoma, basal cell carcinoma (BCC), and cutaneous squamous cell carcinoma (cSCC) are the three major types of skin cancer. Melanoma originates from melanocytes, whereas BCC and cSCC originate from epidermal keratinocytes and are therefore called keratinocyte carcinomas. Chronic exposure to ultraviolet radiation (UVR) is a common risk factor for skin cancers, but they differ with respect to oncogenic mutational profiles and alterations in cellular signaling pathways. cSCC is the most common metastatic skin cancer, and it is associated with poor prognosis in the advanced stage. An important early event in cSCC development is mutation of the TP53 gene and inactivation of the tumor suppressor function of the tumor protein 53 gene (TP53) in epidermal keratinocytes, which then leads to accumulation of additional oncogenic mutations. Additional genomic and proteomic alterations are required for the progression of premalignant lesion, actinic keratosis, to invasive and metastatic cSCC. Recently, the role of p53 in the invasion of cSCC has also been elucidated. In this review, the role of p53 in the progression of cSCC and as potential new therapeutic target for cSCC will be discussed.

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Analysis of mutations in cutaneous squamous cell carcinoma reveals novel genes and mutations associated with patient-specific characteristics and metastasis: a systematic review

Cited by 11 publications

References 47 publications

MDN1 Mutation Is Associated With High Tumor Mutation Burden and Unfavorable Prognosis in Breast Cancer

MDN1 Mutation Is Associated With High Tumor Mutation Burden and Unfavorable Prognosis in Breast Cancer

Cutaneous Squamous Cell Carcinoma Arising in Immunosuppressed Patients: A Systematic Review of Tumor Profiling Studies

The Role of p53 in Progression of Cutaneous Squamous Cell Carcinoma

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