骨肉瘤预后相关致病基因的研究进展

刘璐; 焦辰波; 刘巍峰

doi:10.3969/j.issn.2095-252X.2024.05.012

摘要：Osteosarcoma is a highly aggressive malignant tumor and its treatment remains a great challenge due to its high heterogeneity nature and complex pathogenesis.Over the past 20 years,there has been no improvement in prognosis with first-line chemotherapeutic agents and clinical outcomes.There is no effective anticancer drug for patients with drug-resistant,metastatic,and recurrent osteosarcoma,so new approaches are needed to improve prognosis.With the development of biotechnology and bioinformatics in recent years,research on osteosarcoma has made progress.Among them,the pathogenic genes and signaling pathways of osteosarcoma are the focus and hotspot of research.Understanding cancer biology helps to develop more effective detection and treatment methods,while the identification of pathogenic genes,especially driver genes,is one of the keys.The development of sequencing technology has promoted the identification of somatic mutations and copy number changes in osteosarcoma.Due to its high heterogeneity and low incidence,the research on the nature and quantity of driver genes related to the mechanism of osteosarcoma onset,invasion,metastasis,and prognosis is still in its early stages.This article reviews the pathogenic genes of osteosarcoma,biological functions,regulatory mechanisms,mutation characteristics,as well as the relevant signaling pathways and targeted therapies,hoping to provide hints of genes that classify patients into different therapeutic options.Among them,driver genes such as TP53,RB1,CDKN2A are considered to play an important role in the development of osteosarcoma,while genes such as ATRX,MDM2,PTEN,BRCA1/2,Rab22a have also been proven to be closely related to osteosarcoma development.