Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi最新文献

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[Primary cutaneous CD8(+) infiltrating ectodermal lymphocytic T-cell lymphoma: a case report]. 原发性皮肤CD8(+)浸润外胚层淋巴细胞t细胞淋巴瘤1例报告。
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi Pub Date : 2025-04-14 DOI: 10.3760/cma.j.cn121090-20241125-00478
K T Long, Z H Pu, W X Yang
{"title":"[Primary cutaneous CD8(+) infiltrating ectodermal lymphocytic T-cell lymphoma: a case report].","authors":"K T Long, Z H Pu, W X Yang","doi":"10.3760/cma.j.cn121090-20241125-00478","DOIUrl":"10.3760/cma.j.cn121090-20241125-00478","url":null,"abstract":"","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"46 4","pages":"363"},"PeriodicalIF":0.0,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12158799/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144161188","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Screening of MLL fusion genes and rare breakpoint cases in patients with acute myeloid leukemia]. 【急性髓系白血病患者MLL融合基因筛选及罕见断点病例】。
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi Pub Date : 2025-04-14 DOI: 10.3760/cma.j.cn121090-20240407-00125
S Li, H C Cheng, Z Y Wang, W P Hao, H Liang, J Ma
{"title":"[Screening of MLL fusion genes and rare breakpoint cases in patients with acute myeloid leukemia].","authors":"S Li, H C Cheng, Z Y Wang, W P Hao, H Liang, J Ma","doi":"10.3760/cma.j.cn121090-20240407-00125","DOIUrl":"10.3760/cma.j.cn121090-20240407-00125","url":null,"abstract":"<p><p><b>Objective:</b> To screen for patients with mixed-lineage leukemia (MLL) fusion gene-positive with acute myeloid leukemia (AML), analyze the clinical characteristics and prognosis of patients with AML with positive fusion genes, and report two cases with rare breakpoint sites. <b>Methods:</b> This study included 287 patients with AML (non-acute promyelocytic leukemia) admitted to the Hematology and Oncology Research Center of Harbin First Hospital from October 2021 to October 2023. The cohort involved 157 males and 130 females, with a median age of 48 years (range: 19-80 years). All 287 patients underwent screening for 56 fusion genes and chromosome karyotyping analysis. Fluorescence in situ hybridization (FISH) and RNA seq were further performed on patients with negative fusion genes but positive 11q23.3 chromosomal translocation. Patient observation indicators included remission, recurrence, and others. <b>Results:</b> Among the 287 patients with AML, 15 were positive for the MLL fusion gene, with a positivity rate of 5.2%. Among the 11 types of MLL fusion genes detected, the most prevalent fusion types were MLL-ENL (4 cases), MLL-ELL (4 cases), MLL-AF9 (3 cases), and MLL-AF6 (3 cases). Of the 15 patients with positive MLL fusion gene, 2 demonstrated negative fusion gene while exhibiting positive chromosome and FISH. RNA-seq testing in these two patients revealed an uncommon breakpoint in the MLL fusion gene and a novel breakpoint fusion site, respectively. Complete remission (CR) was achieved in 6 patients with positive MLL fusion genes during the first chemotherapy cycle. After two cycles, eight patients achieved CR, with 50% of them experiencing recurrence within 2 months. <b>Conclusion:</b> RNA seq technology is useful for screening fusion genes with unconventional or novel cleavage sites, and patients with positive MLL fusion genes demonstrated a poorer prognosis.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"46 4","pages":"349-354"},"PeriodicalIF":0.0,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12158805/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144161192","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Effects of donor T cell stat3 deficiency on acute intestinal graft-versus-host disease in mice]. 供体T细胞stat3缺乏对小鼠急性肠道移植物抗宿主病的影响
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi Pub Date : 2025-04-14 DOI: 10.3760/cma.j.cn121090-20250107-00011
Y X Xu, X Q Wang, S J Yang, Q X Song, J Wei, X Zhang
{"title":"[Effects of donor T cell stat3 deficiency on acute intestinal graft-versus-host disease in mice].","authors":"Y X Xu, X Q Wang, S J Yang, Q X Song, J Wei, X Zhang","doi":"10.3760/cma.j.cn121090-20250107-00011","DOIUrl":"10.3760/cma.j.cn121090-20250107-00011","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the effects and underlying mechanisms of Stat3 knockout in donor T cells on acute gastrointestinal graft-versus-host disease (GI-aGVHD) . <b>Methods:</b> BALB/c mice were exposed to lethal irradiation and transplanted with bone marrow and spleen cells from BALB/c mice (syngeneic control group), C57BL/6 mice (wild-type T cell group, WT group), or C57BL/6J-Stat3(em1cyagen) mice (Stat3 gene knockout T cell group, Stat3-KO group) via tail vein injection to establish the aGVHD model. The survival rate, body weight changes, and clinical scores of mice were monitored. Cytometric bead array (CBA) was used to detect the concentrations of serum cytokines. Lymphocytes were isolated from tissues for flow cytometric analysis. H&E staining was performed to observe intestinal pathological changes. FITC-dextran assay was conducted to assess intestinal permeability. Immunohistochemistry was used to evaluate the expression of Ki67 and Muc2. Real-Time Quantitative Reverse Transcription PCR (qRT-PCR) was employed to analyze the gene expression levels of Olfm4, Lysozyme, and Muc2 in the small intestine. Metabolomics was conducted to detect metabolites in serum and intestinal tissues. An in vitro GI-aGVHD organoid model was established by coculturing intestinal organoids with allogeneic T cells, where the number and area of small intestinal organoids were recorded. The GVL effect was assessed using luciferase-transfected ALL cells (ALL/Luc) and bioluminescent imaging. <b>Results:</b> Compared with the WT group, Stat3 knockout T cells alleviated body weight loss, reduced symptoms-such as hunchback and diarrhea-in mice, improved survival rate (<i>P</i><0.05), and reduced serum interleukin (IL) -2, IL-6, interferon-γ, tumor necrosis factor-α, IL-17A, and IL-10 levels (all <i>P</i><0.05), intestinal inflammatory cell infiltration (<i>P</i><0.05), and intestinal mucosal permeability. Further, Muc2 and Ki67 expression levels in the small intestine of the Stat3 knockout group were markedly increased, and Olfm4, Lysozyme, and Muc2 gene expression levels were significantly increased (all <i>P</i><0.05). In vitro, the Stat3 knockout group demonstrated better organoid development than the WT group. Metabolomic analyses indicated that Stat3 knockout in T cells may affect the pathways associated with bile acid secretion and unsaturated fatty acids. ALL/Luc cells in the GVL mouse model proliferated rapidly in the TCD-BM group; however, 80% of the mice in the Stat3-KO group survived tumor-free for >100 days (<i>P</i><0.05) . <b>Conclusion:</b> Knocking out Stat3 in graft T cells reduces T cell damage to intestinal stem cells, thereby ultimately alleviating GI-aGVHD while maintaining a stable GVL effect.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"46 4","pages":"302-313"},"PeriodicalIF":0.0,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12158802/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144162643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Keeping up with the trends and improving the hierarchical system for the diagnosis and treatment of hemophilia in China]. 【紧跟趋势,完善中国血友病诊疗分级体系】。
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi Pub Date : 2025-04-14 DOI: 10.3760/cma.j.cn121090-20250108-00017
R C Yang
{"title":"[Keeping up with the trends and improving the hierarchical system for the diagnosis and treatment of hemophilia in China].","authors":"R C Yang","doi":"10.3760/cma.j.cn121090-20250108-00017","DOIUrl":"10.3760/cma.j.cn121090-20250108-00017","url":null,"abstract":"<p><p>As a rare disease, hemophilia is the optimal one for hierarchical diagnosis and treatment. Under the guidance and support of National Health Commission of the People's Republic of China and related organization, Hemophilia Treatment Center Collaborative Network of China has explored the establishment of the hierarchical system for the diagnosis and treatment of hemophilia in China, which contributed to the improvement of hemophilia care in China and in the meantime, shared the experience for other diseases and disciplines.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"46 4","pages":"281-283"},"PeriodicalIF":0.0,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12158809/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144162658","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Chinese expert consensus on screening and clinical application of monoclonal immunoglobulins(2025)]. [中国单克隆免疫球蛋白筛选及临床应用专家共识(2025)]。
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi Pub Date : 2025-04-14 DOI: 10.3760/cma.j.cn121090-20250108-00016
{"title":"[Chinese expert consensus on screening and clinical application of monoclonal immunoglobulins(2025)].","authors":"","doi":"10.3760/cma.j.cn121090-20250108-00016","DOIUrl":"10.3760/cma.j.cn121090-20250108-00016","url":null,"abstract":"<p><p>Monoclonal immunoglobulins (M proteins) are homogeneous immunoglobulins or their fragments (such as light chains) secreted by clonal B cells or plasma cells. M protein-related diseases are a group of disorders characterized by the presence of M proteins in the blood and/or urine. M protein screening helps in early M protein-related disease detection. To enhance the early detection of M protein-related diseases, domestic hematologists have developed this consensus, which systematically introduces the current screening methods for M proteins and their clinical application scenarios to guide clinical practice.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"46 4","pages":"289-294"},"PeriodicalIF":0.0,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12158811/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144162553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Expression of GPRC5D in newly diagnosed patients with multiple myeloma detected by flow cytometry and its prognostic value]. [流式细胞术检测GPRC5D在新诊断多发性骨髓瘤患者中的表达及其预后价值]。
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi Pub Date : 2025-04-14 DOI: 10.3760/cma.j.cn121090-20250220-00080
C Q Jin, F Yan, A Ma, K L Xu, J Y Xia
{"title":"[Expression of GPRC5D in newly diagnosed patients with multiple myeloma detected by flow cytometry and its prognostic value].","authors":"C Q Jin, F Yan, A Ma, K L Xu, J Y Xia","doi":"10.3760/cma.j.cn121090-20250220-00080","DOIUrl":"10.3760/cma.j.cn121090-20250220-00080","url":null,"abstract":"<p><p><b>Objective:</b> To investigate GPRC5D expression on myeloma cells in newly diagnosed multiple myeloma (NDMM) patients and evaluate its prognostic significance. <b>Methods:</b> This study retrospectively analyzed the clinical data of 65 patients with NDMM treated at the Affiliated Hospital of Xuzhou Medical University from April 2023 to April 2024. The expression of GPRC5D on the surface of myeloma cells in all patients was detected with flow cytometry before induction therapy, and patients were stratified into high and low GPRC5D expression groups based on the median GPRC5D positivity rate. Clinical characteristics, immune status, treatment response after induction therapy, and prognosis were compared between the two groups. <b>Results:</b> The median positive rate of GPRC5D in the plasma cells of 65 patients with NDMM was 32.68%. Based on this threshold, patients were categorized into the high (33 cases, GPRC5D positive rate ≥ 32.68%) and low (32 cases, GPRC5D positive rate <32.68%) GPRC5D expression groups. Compared with the low GPRC5D expression group, the high GPRC5D expression group demonstrated a higher proportion of 1q21 gain (78.8% <i>vs</i> 43.8%, <i>P</i>=0.004), a higher incidence of immunoparesis involving ≥2 uninvolved immunoglobulins (87.9% <i>vs</i> 62.5%, <i>P</i>=0.018), and severe immunoparesis (59.4% <i>vs</i> 33.3%, <i>P</i>=0.046). Further, CD16(+)CD56(+) cell levels were lower in the high GPRC5D expression group [ (16.60±8.70) % <i>vs</i> (27.78±15.78) %, <i>P</i>=0.005]. No significant difference was observed in the overall response rate between the high and low GPRC5D expression groups (78.8% <i>vs</i> 93.8%, <i>P</i>=0.165). However, the high GPRC5D expression group exhibited a significantly lower rate of achieving very good partial remission or better (42.4% <i>vs</i> 78.2%, <i>P</i>=0.003) and a lower MRD negativity rate (30.0% <i>vs</i> 68.8%, <i>P</i>=0.002). Compared with the low GPRC5D expression group, patients with high expression demonstrated a significantly shorter median progression-free survival (11.2 months <i>vs</i> not reached, <i>P</i>=0.002), whereas the median overall survival was not reached in either group, with no statistically significant difference (<i>P</i>=0.069) . <b>Conclusions:</b> The GPRC5D positivity rate in the plasma cells of patients with NDMM is associated with 1q21 gain and immune status. High GPRC5D expression at diagnosis may predict poor response to induction therapy and an unfavorable prognosis.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"46 4","pages":"321-327"},"PeriodicalIF":0.0,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12158800/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144162653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Expert consensus on the comprehensive management of monoclonal gammopathy of undetermined significance and smoldering multiple myeloma in China (2025)]. [中国意义不明的单克隆γ病和阴燃型多发性骨髓瘤综合治疗专家共识(2025)]。
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi Pub Date : 2025-03-14 DOI: 10.3760/cma.j.cn121090-20241122-00469
{"title":"[Expert consensus on the comprehensive management of monoclonal gammopathy of undetermined significance and smoldering multiple myeloma in China (2025)].","authors":"","doi":"10.3760/cma.j.cn121090-20241122-00469","DOIUrl":"10.3760/cma.j.cn121090-20241122-00469","url":null,"abstract":"<p><p>Monoclonal gammopathy of undetermined significance (MGUS) is the most common type of plasma cell disorder, characterized by clonal proliferation of plasma cells in the bone marrow, a mild increase in monoclonal protein (M protein), and no organ damage. Smoldering multiple myeloma (SMM) is a plasma cell disease that lies between MGUS and active multiple myeloma (AMM), featuring elevated levels of M protein in the plasma and increased plasma cell infiltration in the bone marrow, but without typical clinical manifestations. SMM is considered as a precursor state to AMM. This consensus was jointly developed by the Plasma Cell Disease Group, Chinese Society of Hematology, Chinese Medical Association and the Chinese Myeloma Committee-Chinese Hematology Association, covering the epidemiological characteristics, clinical manifestations, testing and examination, diagnostic criteria, differential diagnosis, prognosis assessment, and patient management strategies for MGUS and SMM. The consensus aims to provide standardized guidance for the comprehensive management of MGUS and SMM, ensuring timely monitoring of disease progression and intervention at the appropriate time to improve the quality of life and survival rates of patients.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"46 3","pages":"198-208"},"PeriodicalIF":0.0,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12038478/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144021787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[The guidelines for the diagnosis and treatment of Castleman disease in China (2025)]. [中国Castleman病诊疗指南(2025)]。
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi Pub Date : 2025-03-14 DOI: 10.3760/cma.j.cn121090-20250101-00001
{"title":"[The guidelines for the diagnosis and treatment of Castleman disease in China (2025)].","authors":"","doi":"10.3760/cma.j.cn121090-20250101-00001","DOIUrl":"10.3760/cma.j.cn121090-20250101-00001","url":null,"abstract":"<p><p>In 2021, China Castleman Disease Network (CCDN) published the the first consensus of the diagnosis and treatment of Castleman disease in China (2021). In recent years, significant progress has been made in the field of Castleman disease. Based on the most up-to-date research findings and through collective discussion of CCDN experts, the new guideline is developed according to the Oxford Center for Evidence-Based Medicine (OCEBM) levels of evidence system, building upon the aforementioned consensus.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"46 3","pages":"216-222"},"PeriodicalIF":0.0,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12038470/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143639893","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Dynamic changes in genetic mutations in myelodysplastic neoplasms with progressive disease and leukemic transformation]. [骨髓增生异常肿瘤伴进行性疾病和白血病转化的基因突变的动态变化]。
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi Pub Date : 2025-03-14 DOI: 10.3760/cma.j.cn121090-20240708-00254
X Yan, H Y Chen, L Wang, Y L Tian, Y Gu, N Liu, Z Ge
{"title":"[Dynamic changes in genetic mutations in myelodysplastic neoplasms with progressive disease and leukemic transformation].","authors":"X Yan, H Y Chen, L Wang, Y L Tian, Y Gu, N Liu, Z Ge","doi":"10.3760/cma.j.cn121090-20240708-00254","DOIUrl":"10.3760/cma.j.cn121090-20240708-00254","url":null,"abstract":"&lt;p&gt;&lt;p&gt;&lt;b&gt;Objective:&lt;/b&gt; To investigate the key genetic mutations during the progressive disease (PD) /leukemic transformation (LT) course in MDS by analyzing the dynamic changes of genetic mutations in patients with myelodysplastic neoplasms (MDS) with or without PD/LT. &lt;b&gt;Methods:&lt;/b&gt; This study enrolled 84 patients with sequential MDS from May 2019 to August 2023 at ZhongDa Hospital Southeast University and used the next generation sequencing to detect gene mutations. The dynamic changes of genetic mutations in patients with MDS with or without PD/LT were retrospectively analyzed. &lt;b&gt;Results:&lt;/b&gt; ①This study analyzed data from 84 patients diagnosed with MDS with a median age of 63 (range: 31-95) years and consisting of 51 males and 33 females. Participants were distributed to the PD cohort (&lt;i&gt;n&lt;/i&gt;=20), LT cohort (&lt;i&gt;n&lt;/i&gt;=13), and non-PD/LT cohort (&lt;i&gt;n&lt;/i&gt;=51). Patients from the PD/LT cohorts demonstrated a higher proportion of bone marrow blasts than the non-PD/LT cohort at the first sequencing (1.6% &lt;i&gt;vs&lt;/i&gt;. 0.4%, &lt;i&gt;P&lt;/i&gt;=0.013). ②The most frequently mutated genes that were detected at first sequencing were ASXL1 (&lt;i&gt;n&lt;/i&gt;=21, 25.0%), TP53 (&lt;i&gt;n&lt;/i&gt;=17, 20.2%), TET2 (&lt;i&gt;n&lt;/i&gt;=12, 14.3%), DNMT3A (&lt;i&gt;n&lt;/i&gt;=11, 13.1%), and U2AF1 (&lt;i&gt;n&lt;/i&gt;=11, 13.1%). Further, patients from the PD/LT cohorts exhibited a higher median number of mutated genes than the non-PD/LT cohort (2 &lt;i&gt;vs&lt;/i&gt;.1, &lt;i&gt;P&lt;/i&gt;=0.014) at first sequencing. TET2 (27.3% &lt;i&gt;vs&lt;/i&gt;. 5.9%, &lt;i&gt;P&lt;/i&gt;=0.010), SETBP1 (15.2% &lt;i&gt;vs&lt;/i&gt;.2.0%, &lt;i&gt;P&lt;/i&gt;=0.033), and RUNX1 (18.2% &lt;i&gt;vs&lt;/i&gt;. 2.0%, &lt;i&gt;P&lt;/i&gt;=0.013) mutations were enriched in the PD/LT cohorts than in the non-PD/LT cohort. ③The most frequently detected acquired mutations (Ⅰ mutations) and clonally expanded mutations (Ⅱ mutations) were TP53 (&lt;i&gt;n&lt;/i&gt;=9, 10.7%), TET2 (&lt;i&gt;n&lt;/i&gt;=7, 8.3%), ASXL1 (&lt;i&gt;n&lt;/i&gt;=7, 8.3%), and RAS pathway (&lt;i&gt;n&lt;/i&gt;=7, 8.3%). Furthermore, patients from the PD/LT cohorts showed a higher median number of Ⅰ/Ⅱ genes than the non-PD/LT cohort (2 &lt;i&gt;vs&lt;/i&gt;. 0, &lt;i&gt;P&lt;/i&gt;&lt;0.001), and Ⅰ/Ⅱ RAS pathway (21.2% &lt;i&gt;vs&lt;/i&gt;. 0, &lt;i&gt;P&lt;/i&gt;=0.001), TP53 (27.3% &lt;i&gt;vs&lt;/i&gt;. 0, &lt;i&gt;P&lt;/i&gt;&lt;0.001), and TET2 (18.2% &lt;i&gt;vs&lt;/i&gt;. 2.0%, &lt;i&gt;P&lt;/i&gt;=0.013) mutations were enriched in PD/LT cohorts than in the non-PD/LT cohorts. ④Most of the TP53 mutations (9/12, 75.0%) in PD/LT cohorts were Ⅰ/Ⅱ mutations, whereas all of the TP53 mutations in non-PD/LT cohort were clone-decrease mutations (Ⅲ mutations) (5/8, 62.5%) or clone-stable mutations (Ⅳ mutations) (3/8, 37.5%). Most of the RAS pathway mutations (7/8,87.5%) in the PD/LT cohorts were Ⅰ/Ⅱ mutations, whereas only one patient in the non-PD/LT cohort demonstrated RAS pathway mutations, which belonged to Ⅳ mutations. &lt;b&gt;Conclusion:&lt;/b&gt; Patients from the PD/LT cohorts demonstrated a higher proportion of bone marrow blasts and a higher median number of mutations than the non-PD/LT cohort at first sequencing; TET2, SETBP1, and RUNX1 mutations were enriched in the PD/LT cohorts than in the non-PD/LT cohort","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"46 3","pages":"252-260"},"PeriodicalIF":0.0,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12038471/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143989277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[The Chinese clinical expert consensus for the BCMA bispecific T cell engager in the treatment of multiple myeloma (2025)]. 【BCMA双特异性T细胞接合剂治疗多发性骨髓瘤的中国临床专家共识(2025)】。
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi Pub Date : 2025-03-14 DOI: 10.3760/cma.j.cn121090-20250202-00050
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