Gene mutations in newly diagnosed multiple myeloma patients detected by next-generation sequencing technology
作者机构：Department of HematologyBeijing Jishuitan HospitalCapital Medical UniversityBeijing 100035China
出 版 物：《Cancer Pathogenesis and Therapy》 (癌症发生与治疗（英文）)
年 卷 期：2024年第2卷第3期
页 面：205-211页
学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学]
基 金：supported by the Beijing Jishuitan Research Funding(No.XKXX202111)
主 题：Multiple myeloma Next-generation sequencing Genetics mutation
摘 要：Background:Multiple myeloma(MM)is a heterogeneous plasma-derived hematopoietic malignancy with complex genetic mutation contributing to the *** gene sequencing has been applied in MM,genetic features from Chinese MM patients are reported *** investigated the genetic mutation of newly diagnosed multiple myeloma(NDMM)patients and explore its correlation with cytogenetic abnormalities detected by fluorescence in situ hybridization(FISH).Methods:A total of 206 patients with NDMM were *** enriching plasma cells with CD138 magnetic beads,92 MM-related target gene mutations were detected by the Illumina sequencing platform,and six common genetic abnormalities were detected by ***:162 cases(78.6%)had at least one gene mutation detected by *** top 5 mutated genes were KRAS,NRAS,TRAF3,BRAF,and *** abnormalities detected by FISH have a certain correlation with gene mutations,t(11;14)translocations are often accompanied by CCND1 and TP53 mutations,KLHL6 in t(4;14),SP140,CDKN1B and PRKD2 in t(14;16)and t(14;20)*** mutation ratio was higher for EGR1,while lower of CCND1 in patients with gain *** TP53 mutation was more likely in patients with 17p *** gene mutation affects the pathway of the RNA process is more frequently occurring in males and age less than 70 years *** International Staging System(ISS)Stage Ⅲ correlated with gene mutations in the NK-κB pathway while Revised ISS(R-ISS)Stage Ⅲ correlated with the DNA damage repair ***:There are various gene mutations in NDMM patients,mainly RAS/MAPK and NF-κB pathway gene pathways.
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