CGE_2024v12n1

Cancer Genetics and Epigenetics 2024, Vol.12, No.1, 55-65 http://medscipublisher.com/index.php/cge 56 This study aims to use single-cell RNA sequencing technology to deeply explore the molecular basis of tumor heterogeneity, in order to provide new ideas and strategies for precise diagnosis and treatment of tumors. Through this research, we hope to gain a more comprehensive understanding of the formation and maintenance mechanisms of tumor heterogeneity, thereby providing a scientific basis for the development of targeted therapies for specific cell subpopulations, and ultimately improving the therapeutic effects and quality of life of tumor patients. 1 Traditional Research Methods and Limitations of Tumor Heterogeneity 1.1 The concept of tumor heterogeneity Tumor heterogeneity (Figure 1) is an extremely critical and complex issue in the field of contemporary oncology. It refers to the genetics, phenotypic characteristics, metabolic activity, and response to treatment among different cells within a single tumor. significant differences across dimensions. This heterogeneity not only runs through the entire process of tumor occurrence, development, and metastasis, but is also an important factor affecting patient prognosis and treatment response. Figure 1 The composition and impact of tumor heterogeneity (Bai et al., 2020) From a genetic perspective, tumor heterogeneity is reflected in differences in gene mutations, copy number variations, and epigenetic modifications between different cells. These genetic variations may confer different growth advantages, invasion capabilities, and drug sensitivity to tumor cells (Wang Quan et al., 2020). In addition, phenotypic heterogeneity is manifested in the diversity of tumor cells in terms of morphology, differentiation status, metabolic activity, and intercellular communication. This phenotypic heterogeneity is driven in large part by genetic heterogeneity as well as the complex interplay of the tumor microenvironment. The existence of tumor heterogeneity brings great challenges to the diagnosis and treatment of tumors. In his article, Welch (2016) emphasized the pervasiveness of heterogeneity in all cancer types, including genetic intrinsic, epigenetic, positional, and population-level heterogeneity, and explored these properties have profound implications for understanding tumor behavior and how (or should be) treated. First, because different cell subpopulations may respond very differently to treatment, traditional “one-size-fits-all” treatments often fail to completely eliminate all tumor cells, leading to disease recurrence and progression. Secondly, tumor heterogeneity is also one of the important reasons leading to drug resistance. During treatment, drug-sensitive cells may be selectively killed, while drug-resistant cell subpopulations may gradually dominate, leading to treatment failure.

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