CGE2025v13n1

Cancer Genetics and Epigenetics, 2025, Vol.13, No.1, 32-40 http://medscipublisher.com/index.php/cge 34 method is fast and low-cost, and is expected to become a more convenient genotyping option in the future (Kuno et al., 2021). Table 1 Summary of patients who received genotype-matched therapy (Adopted from Sawada et al., 2021) No Age Stage Tumor type Histological type Targets Targeted therapy Best response 1 62 IIB CC SCC Hypermutated and MSI-high MLH1 (Loss) Pembrolizumab PD 2 65 IB EC EM(G3) PTEN(mut) Everolimus SD 3 68 IVB EC EM(G3) TSC2 (somatic UPD) Everolimus letrozole PR 4 59 IVB EC EM(G3) AKT1, MTOR, CTNNB1(mut) Everolimus letrozole PD 5 59 IVB EC EM(G3) Hypermutated and MSI-high Pembrolizumab - 6 70 IVB EC HGSC HRD, BRIP1(mut) Olaparib CR 7 41 IVB OC HGSC NF1 (Loss) Everolimus letrozole PD Figure 1 (A) Chest computed tomography showing a lung metastatic lesion before everolimus treatment; (B) Chest computed tomography showing a shrunken lung metastatic lesion, treated with everolimus, at the end of the first month (Adopted from Sawada et al., 2021) 4 Biomarkers for Targeted Therapy of Cervical Cancer 4.1 Identification and classification of predictive and prognostic biomarkers In cervical cancer, there are two important types of biomarkers. One is a predictive marker, which can help doctors determine whether a treatment is effective for a patient. The other is a prognostic marker, which can tell us how the disease progresses, regardless of whether it is treated or not. Through genetic analysis, scientists have discovered some important genes related to treatment outcomes, such as PIK3CA, PTEN, and ERBB3, which are related to treatment effects and survival time (Kuno et al., 2019; Huang et al., 2021; Friedman et al., 2023). There are also two indicators worth paying attention to: tumor mutation burden (TMB) and microsatellite instability (MSI). When TMB is higher, patients may have longer progression-free survival (PFS) and overall survival (OS) (Huang et al., 2021). 4.2 Examples of biomarkers associated with treatment response Certain biomarkers are associated with treatment response in cervical cancer. For example, PD-L1 expression level is a common indicator, especially when using PD-1 inhibitors for immunotherapy (Huang et al., 2021; Kim et al., 2023). EGFR and VEGF are also important markers. The signaling pathways involved can be intervened with specific inhibitors, which may improve the treatment effect (Roszik et al., 2018; Crowley et al., 2021). Changes in the PI3K/AKT signaling pathway, such as PIK3CA and PTEN gene mutations, are also believed to be associated with better effects of targeted drugs (Huang et al., 2021; Sawada et al., 2021).

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