{"title":"Specific Mutation Predict Relapse/Refractory Diffuse Large B-Cell Lymphoma.","authors":"Jing Wang, Lei Tian, Weilong Zhang, Shuhan Tang, Wei Zhao, Yu Guo, Chaoling Wu, Yuansheng Lin, Xiaoyan Ke, Hongmei Jing","doi":"10.2147/JBM.S471639","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>The application of rituximab has significantly enhanced the overall survival rates in patients with diffuse large B-cell lymphoma (DLBCL). Regrettably, a significant number of patients still progress to relapse/refractory DLBCL (rrDLBCL).</p><p><strong>Methods: </strong>Herein, we employed targeted sequencing of 55 genes to investigate if gene mutations could predict the progression to rrDLBCL. Additionally, we compared the mutation profiles at the time of DLBCL diagnosis with those found in rrDLBCL cases.</p><p><strong>Results: </strong>Our findings highlighted significantly elevated mutation frequencies of <i>TP53, MEF2B</i> and <i>CD58</i> in diagnostic biopsies from patients who progressed to relapse or refractory disease, with CD58 mutations exclusively observed in the rrDLBCL group. In assessing the predictive power of mutation profiles for treatment responses in primary DLBCL patients, we found that the frequency of <i>CARD11</i> mutations was substantially higher in non-response group as compared with those who responded to immunochemotherapy. In addition, we revealed mutations in <i>HIST2H2AB, BCL2, NRXN3, FOXO1, HIST1H1C, LYN</i> and <i>TBL1XR1</i> genes were only detected in initial diagnostic biopsies, mutations in the EBF1 gene were solely detected in the rrDLBCL patients.</p><p><strong>Conclusion: </strong>Collectively, this study elucidates some of the genetic mechanisms contributing to the progression of rrDLBCL and suggests that the presence of <i>CD58</i> mutations might serve as a powerful predictive marker for relapse/refractory outcomes in primary DLBCL patients.</p>","PeriodicalId":15166,"journal":{"name":"Journal of Blood Medicine","volume":"15 ","pages":"407-419"},"PeriodicalIF":2.1000,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11401521/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Blood Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2147/JBM.S471639","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"HEMATOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Background: The application of rituximab has significantly enhanced the overall survival rates in patients with diffuse large B-cell lymphoma (DLBCL). Regrettably, a significant number of patients still progress to relapse/refractory DLBCL (rrDLBCL).
Methods: Herein, we employed targeted sequencing of 55 genes to investigate if gene mutations could predict the progression to rrDLBCL. Additionally, we compared the mutation profiles at the time of DLBCL diagnosis with those found in rrDLBCL cases.
Results: Our findings highlighted significantly elevated mutation frequencies of TP53, MEF2B and CD58 in diagnostic biopsies from patients who progressed to relapse or refractory disease, with CD58 mutations exclusively observed in the rrDLBCL group. In assessing the predictive power of mutation profiles for treatment responses in primary DLBCL patients, we found that the frequency of CARD11 mutations was substantially higher in non-response group as compared with those who responded to immunochemotherapy. In addition, we revealed mutations in HIST2H2AB, BCL2, NRXN3, FOXO1, HIST1H1C, LYN and TBL1XR1 genes were only detected in initial diagnostic biopsies, mutations in the EBF1 gene were solely detected in the rrDLBCL patients.
Conclusion: Collectively, this study elucidates some of the genetic mechanisms contributing to the progression of rrDLBCL and suggests that the presence of CD58 mutations might serve as a powerful predictive marker for relapse/refractory outcomes in primary DLBCL patients.
期刊介绍:
The Journal of Blood Medicine is an international, peer-reviewed, open access, online journal publishing laboratory, experimental and clinical aspects of all topics pertaining to blood based medicine including but not limited to: Transfusion Medicine (blood components, stem cell transplantation, apheresis, gene based therapeutics), Blood collection, Donor issues, Transmittable diseases, and Blood banking logistics, Immunohematology, Artificial and alternative blood based therapeutics, Hematology including disorders/pathology related to leukocytes/immunology, red cells, platelets and hemostasis, Biotechnology/nanotechnology of blood related medicine, Legal aspects of blood medicine, Historical perspectives. Original research, short reports, reviews, case reports and commentaries are invited.