Multiple Basal Cell Carcinomas in Immunocompetent Patients

Savoia, Paola; Veronese, Federica; Camillo, Lara; Tarantino, Vanessa; Cremona, Ottavio; Zavattaro, Elisa

doi:10.3390/cancers14133211

Cited by 3 publications

(1 citation statement)

References 61 publications

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“…The risk factors for both BCC and SCC include ultraviolet radiation (UVR) and chronic immunosuppression [ 18 , 19 , 20 ]. UVR is the major known environmental risk factor.…”

Section: Introductionmentioning

confidence: 99%

Molecular Profiling and the Interaction of Somatic Mutations with Transcriptomic Profiles in Non-Melanoma Skin Cancer (NMSC) in a Population Exposed to Arsenic

Jasmine,

Argos,

Khamkevych

et al. 2024

Cells

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Exposure to inorganic arsenic (As) is recognized as a risk factor for non-melanoma skin cancer (NMSC). We followed up with 7000 adults for 6 years who were exposed to As. During follow-up, 2.2% of the males and 1.3% of the females developed basal cell carcinoma (BCC), while 0.4% of the male and 0.2% of the female participants developed squamous cell carcinoma (SCC). Using a panel of more than 400 cancer-related genes, we detected somatic mutations (SMs) in the first 32 NMSC samples (BCC = 26 and SCC = 6) by comparing paired (tissue–blood) samples from the same individual and then comparing them to the SM in healthy skin tissue from 16 participants. We identified (a) a list of NMSC-associated SMs, (b) SMs present in both NMSC and healthy skin, and (c) SMs found only in healthy skin. We also demonstrate that the presence of non-synonymous SMs in the top mutated genes (like PTCH1, NOTCH1, SYNE1, PKHD1 in BCC and TP53 in SCC) significantly affects the magnitude of differential expressions of major genes and gene pathways (basal cell carcinoma pathways, NOTCH signaling, IL-17 signaling, p53 signaling, Wnt signaling pathway). These findings may help select groups of patients for targeted therapy, like hedgehog signaling inhibitors, IL17 inhibitors, etc., in the future.

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“…The risk factors for both BCC and SCC include ultraviolet radiation (UVR) and chronic immunosuppression [ 18 , 19 , 20 ]. UVR is the major known environmental risk factor.…”

Section: Introductionmentioning

confidence: 99%

Molecular Profiling and the Interaction of Somatic Mutations with Transcriptomic Profiles in Non-Melanoma Skin Cancer (NMSC) in a Population Exposed to Arsenic

Jasmine,

Argos,

Khamkevych

et al. 2024

Cells

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Clinical Risk Factor Prediction for Second Primary Skin Cancer: A Hospital-Based Cancer Registry Study

et al. 2022

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This study aimed to develop a risk-prediction model for second primary skin cancer (SPSC) survivors. We identified the clinical characteristics of SPSC and created awareness for physicians screening high-risk patients among skin cancer survivors. Using data from the 1248 skin cancer survivors extracted from five cancer registries, we benchmarked a random forest algorithm against MLP, C4.5, AdaBoost, and bagging algorithms for several metrics. Additionally, in this study, we leveraged the synthetic minority over-sampling technique (SMOTE) for the issue of the imbalanced dataset, cost-sensitive learning for risk assessment, and SHAP for the analysis of feature importance. The proposed random forest outperformed the other models, with an accuracy of 90.2%, a recall rate of 95.2%, a precision rate of 86.6%, and an F1 value of 90.7% in the SPSC category based on 10-fold cross-validation on a balanced dataset. Our results suggest that the four features, i.e., age, stage, gender, and involvement of regional lymph nodes, which significantly affect the output of the prediction model, need to be considered in the analysis of the next causal effect. In addition to causal analysis of specific primary sites, these clinical features allow further investigation of secondary cancers among skin cancer survivors.

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Comparison of Socio-demographic Characteristics, Tumour Features, and Surgical Treatment Outcomes in Phenotypic Variants of Basal Cell Carcinoma

Ürün,

Ürün

2024

Indian Journal of Dermatology

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Background: Basal cell carcinoma (BCC) cases exhibit variations in tumour number, location, and growth patterns. While some patients develop only one BCC, approximately one-third of patients later develop one or more additional lesions. Aims: The aim of the study was to identify risk factors for further BCC lesions in patients with different phenotypic presentations. Materials and Methods: We retrospectively evaluated 1052 histopathologically diagnosed tumours of 861 patients, who were divided into four phenotypic presentation groups according to tumour number at initial diagnosis and during follow-up. Age, sex, tumour characteristics, surgical margins, re-excision and residual tumour rates were compared. Univariate and multivariate logistic regression analyses were performed to determine risk factors for multiple tumour development. Results: There were 723 patients in the single presentation phenotype 1 (SPP1) group, 19 in the SPP-more group, 114 in the multiple presentation phenotype (MPP)-cluster initial group, and five patients in the MPP-cluster later group. Male sex was more common in the MPP-cluster later group (P = 0.028). The mean age was lower in the SPP1 and SPP-more groups (P = 0.002). Ear involvement was more common in the MPP-cluster later group (P < 0.05). Superficial and basosquamous subtypes were more common in the SPP-more and MPP-cluster later groups (P < 0.05). Re-excision and residual tumour rates were lowest in the SPP1 group (P < 0.05). Age over 69 years, male sex, and periorbital or upper extremity location were significant risk factors for multiple tumour development (P < 0.05). Limitations: The limitations of our study include the inability to evaluate environmental risk factors, phenotypic and ethnic characteristics, and the short follow-up period for newly added patients. Conclusions: Predicting different phenotypic presentations by taking the age, gender, and tumour characteristics (localization, histopathological subtype) of the patients into account may allow new tumours to be detected at an early stage.

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Multiple Basal Cell Carcinomas in Immunocompetent Patients

Cited by 3 publications

References 61 publications

Molecular Profiling and the Interaction of Somatic Mutations with Transcriptomic Profiles in Non-Melanoma Skin Cancer (NMSC) in a Population Exposed to Arsenic

Molecular Profiling and the Interaction of Somatic Mutations with Transcriptomic Profiles in Non-Melanoma Skin Cancer (NMSC) in a Population Exposed to Arsenic

Clinical Risk Factor Prediction for Second Primary Skin Cancer: A Hospital-Based Cancer Registry Study

Comparison of Socio-demographic Characteristics, Tumour Features, and Surgical Treatment Outcomes in Phenotypic Variants of Basal Cell Carcinoma

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