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

{"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}

{"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}

{"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}

{"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":"<p><p><b>Objective:</b> 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. <b>Methods:</b> 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. <b>Results:</b> 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 (<i>n</i>=20), LT cohort (<i>n</i>=13), and non-PD/LT cohort (<i>n</i>=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% <i>vs</i>. 0.4%, <i>P</i>=0.013). ②The most frequently mutated genes that were detected at first sequencing were ASXL1 (<i>n</i>=21, 25.0%), TP53 (<i>n</i>=17, 20.2%), TET2 (<i>n</i>=12, 14.3%), DNMT3A (<i>n</i>=11, 13.1%), and U2AF1 (<i>n</i>=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 <i>vs</i>.1, <i>P</i>=0.014) at first sequencing. TET2 (27.3% <i>vs</i>. 5.9%, <i>P</i>=0.010), SETBP1 (15.2% <i>vs</i>.2.0%, <i>P</i>=0.033), and RUNX1 (18.2% <i>vs</i>. 2.0%, <i>P</i>=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 (<i>n</i>=9, 10.7%), TET2 (<i>n</i>=7, 8.3%), ASXL1 (<i>n</i>=7, 8.3%), and RAS pathway (<i>n</i>=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 <i>vs</i>. 0, <i>P</i><0.001), and Ⅰ/Ⅱ RAS pathway (21.2% <i>vs</i>. 0, <i>P</i>=0.001), TP53 (27.3% <i>vs</i>. 0, <i>P</i><0.001), and TET2 (18.2% <i>vs</i>. 2.0%, <i>P</i>=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. <b>Conclusion:</b> 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}

{"title":"[The Chinese clinical expert consensus for the BCMA bispecific T cell engager in the treatment of multiple myeloma (2025)].","authors":"","doi":"10.3760/cma.j.cn121090-20250202-00050","DOIUrl":"10.3760/cma.j.cn121090-20250202-00050","url":null,"abstract":"<p><p>Multiple myeloma is an incurable disease. The bispecific T cell engager, one of the immune therapies targeting tumor cell surface antigens, has shown promising clinical efficacy. However, bispecific T cell engager therapy has a unique anti-myeloma mechanism and adverse effects. To further standardize the clinical application of B cell maturation antigen bispecific T cell engager, the Chinese Myeloma Committee of the Chinese Hematology Association, the Plasma Cell Disease Group, Chinese Society of Hematology, Chinese Medical Association and the Society of Hematology of Chinese Geriatrics Association organized experts to formulate the expert consensus by referring to recent domestic and international guidelines, consensus, research progress, and clinical practice, to guide clinical applications better.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"46 3","pages":"209-215"},"PeriodicalIF":0.0,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12038466/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144050665","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}

{"title":"[Analysis of two cases of hereditary protein C deficiency causing venous thrombosis].","authors":"M Z Wen, Y F Lu, M N Liu, L Y Qin, Y H Jin, M S Wang, L L Yang","doi":"10.3760/cma.j.cn121090-20240628-00236","DOIUrl":"10.3760/cma.j.cn121090-20240628-00236","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the molecular pathogenic mechanism of venous thrombosis caused by heterozygous missense mutations in two protein C (PROC) genes through laboratory phenotype analysis, genetic mutation analysis, and in vitro expression experiments. <b>Methods:</b> Two probands presented with venous thromboembolism at the First Affiliated Hospital of Wenzhou Medical University. Clinical data and blood samples were collected from the probands and their family members to evaluate the plasma protein C (PC) activity (PC∶A), PC antigen (PC∶Ag) levels, and other relevant coagulation parameters. The anticoagulant capacity was assessed using the thrombin generation test (TGT). The mutation sites of the PROC gene were identified using direct DNA sequencing. Bioinformatics software was used to analyze the conservation and pathogenicity of the mutated gene. PyMOL software was used for the analysis of the protein three-dimensional models and interactions between mutated amino acids. Wild-type and two mutant expression vectors were constructed and HEK293T cells were transiently transfected. Total cellular RNA was extracted from positively transfected cells to investigate the transcriptional levels of the mutant PROC gene. Enzyme-linked immunosorbent assay, Western blot, and cellular immunofluorescence assays were used to investigate the translation levels of the mutant PROC protein. <b>Results:</b> Probands 1 and 2 exhibited PC∶A levels of 35% and 40% and PC∶Ag levels of 44% and 39%, with increasing D-dimer levels to 4.42 mg/L and 0.83 mg/L, respectively. Meanwhile, other coagulation parameters revealed no significant abnormalities. TGT demonstrated impaired anticoagulant function in both proband witnesses and their familial PC carriers. Sequencing analysis revealed heterozygous missense mutations c. 833T>C (p. Leu278Pro) in proband 1 and c. 1330T>C (p. Trp444Arg) in proband 2 within exon 9 of the PROC gene. Conservation analysis revealed that Leu278 and Trp444 were highly conserved across homologous species. Pathogenicity analysis indicated that both p. Leu278Pro and p. Trp444Arg mutations are deleterious. Protein modeling analysis demonstrated that both mutations induce structural alterations in the protein. In vitro expression experiments revealed that compared with the wild-type, both p. Leu278Pro and p. Trp444Arg mutations showed no significant differences in the mRNA expression level of the PC protein. However, both mutations caused significantly lower PC∶Ag content and protein expression levels in the cell culture supernatant compared with the wild-type, whereas higher levels were observed in the cell culture lysate. This indicates the association of both mutations with the secretion function of the PC protein. <b>Conclusion:</b> The heterozygous missense mutations p. Leu278Pro and p. Trp444Arg in exon 9 of the PROC gene in both probands are associated with decreased PC levels.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"46 3","pages":"244-251"},"PeriodicalIF":0.0,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12038477/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144048068","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}

{"title":"[Clinical analysis of 16 cases of adult acute B-lymphoblastic leukemia treated with blinatumomab].","authors":"Z Y Liu, S J Zhang, Z Y Yan, H M Sun, Y B Chen","doi":"10.3760/cma.j.cn121090-20240611-00219","DOIUrl":"10.3760/cma.j.cn121090-20240611-00219","url":null,"abstract":"<p><p>This study aimed to investigate the efficacy and safety of blinatumomab in adult patients with acute B-lymphoblastic leukemia (B-ALL) by conducting a retrospective analysis of the clinical data from 16 patients with B-ALL receiving blinatumomab at the Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, from June 2022 to April 2024. Among the 16 patients, 10 were classified as relapsed/refractory B-ALL and 6 were newly diagnosed Ph(-) B-ALL. Of the 10 patients with relapsed/refractory B-ALL, 8 achieved complete remission (CR) and minimal residual disease (MRD) negativity after one blinatumomab treatment cycle. In the 6 newly diagnosed patients, the bone marrow MRD was negative after one blinatumomab treatment cycle after initial induction chemotherapy followed by sequential blinatumomab treatment. Among them, four completed allogeneic hematopoietic stem cell transplantation and continuously maintained CR. This indicates that blinatumomab exhibits a high remission rate in both patients with relapsed/refractory and newly diagnosed B-ALL, thereby providing the possibility of bridging to transplantation and extending patient survival, with manageable adverse reactions.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"46 3","pages":"269-272"},"PeriodicalIF":0.0,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12038468/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144052503","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}

{"title":"[Differences in clinical and laboratory features and survival between Chinese and Western patients with myelodysplastic neoplasm].","authors":"L L Liu, B Li, T J Qin, Z F Xu, S Q Qu, L J Pan, Q Y Gao, M Jiao, Y J Ja, C W Li, Q Sun, H J Wang, Z J Xiao","doi":"10.3760/cma.j.cn121090-20241210-00555","DOIUrl":"10.3760/cma.j.cn121090-20241210-00555","url":null,"abstract":"<p><p><b>Objective:</b> To compare the clinical and laboratory characteristics and survival between Chinese and Western patients with myelodysplastic neoplasms (MDS) . <b>Methods:</b> Clinical and laboratory data were collected from 1,464 primary adult patients diagnosed with MDS at the Institute of Hematology & Blood Diseases Hospital from August 2016 to June 2024. Collected data were retrospectively analyzed and compared with 2,191 patients from the International Working Group for the Prognosis of Myelodysplastic Syndromes (IWG-PM) . <b>Results:</b> Chinese patients were significantly younger (median age: 56 years <i>vs</i>. 72 years, <i>P</i><0.001) and experienced more severe hematopenia (<i>P</i><0.001) compared with patients from the IWG-PM. Further, Chinese patients exhibited a higher percentage of isolated del (20q), +8, and complex karyotypes as well as a lower percentage of normal karyotypes, del (5q), and -Y (<i>P</i><0.001). Higher U2AF1, NRAS, and NPM1 mutation rates and lower ASXL1, SF3B1, and RUNX1 mutation rates were observed in Chinese patients than in participants from the IWG-PM (<i>P</i><0.05). No significant difference in overall survival (OS) was found between the two groups (median OS: 48 [95% <i>CI</i>: 40 - 56]months, <i>vs</i>. 45[95% <i>CI</i>: 40 - 49] months; <i>P</i>=0.449). Among participants aged ≤45 years, Chinese patients demonstrated more trisomy 8 (<i>P</i>=0.070) and U2AF1 mutation (<i>P</i><0.001) and higher 4-year OS rate compared with those from the IWG-PM (75.5% <i>vs</i>. 62.1%, <i>P</i>=0.001). Among participants aged ≥70 years, Chinese patients exhibited more complex karyotypes but fewer del (5q) as well as more NPM1 but less SF3B1 and TET2 compared with those from the IWG-PM (<i>P</i><0.05). Chinese patients demonstrated shorter survival (median OS: 20 [95% <i>CI</i>: 13 - 27] months <i>vs</i>. 37 [95% <i>CI</i>: 32 - 42] months, <i>P</i><0.001) . <b>Conclusion:</b> Chinese and Western MDS patients differ in age of onset, clinical features, and cytogenetic or molecular genetic abnormalities, with significant differences persisting in age-matched groups. Although the OS is similar, disparities exist in survival for younger and older patients between the two populations.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"46 3","pages":"223-230"},"PeriodicalIF":0.0,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12038469/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144049910","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}

{"title":"[Application of next-generation sequencing technology for the investigation of immunoglobulin variable region characteristics and their prognostic significance in patients with chronic lymphocytic leukemia].","authors":"Z Guo, H M Jin, T L Qiu, L Y Zhu, Y J Wu, H R Qiu, Y Wang, Y Miao, H Jin, L Fan, J Y Li, Y Xia, C Qiao","doi":"10.3760/cma.j.cn121090-20240819-00310","DOIUrl":"10.3760/cma.j.cn121090-20240819-00310","url":null,"abstract":"<p><p><b>Objective:</b> To elucidate the genomic characteristics of the immunoglobulin (IG) heavy-chain variable region and light-chain variable region, the expression of subclones, and the prognostic significance in patients with CLL. <b>Methods:</b> Blood and/or bone marrow specimens were gathered from a cohort of 36 patients with CLL diagnosed at Jiangsu Province Hospital from December 2018 to May 2023, including 12 cases of B cell receptor (BCR) stereotyped patients. IG heavy-chain (IGH) and light-chain (IG Kappa [IGK] and IG lambda [IGL]) gene rearrangements were performed using next-generation sequencing (NGS) technology to analyze the characteristics and prognostic value in CLL. <b>Results:</b> NGS detection of IG variable region (IGHV) demonstrated a significant correlation and superior consistency with Sanger sequencing (<i>r</i>=0.957, <i>P</i> < 0.001). Among the 36 patients, the IGH variant (IGHV) was observed in 9 (25.0%) but not in 27 (75.0%) participants. The incidence of the MYD88 mutation was higher among patients with mutated IGHV [1/27 (3.7%) <i>vs</i> 4/9 (44.4%), <i>P</i>=0.00]. A high incidence of trisomy 12 was observed in the IGHV #8/#8B subset [4/11 (36.4%) <i>vs</i> 1/25 (4.0%), <i>P</i>=0.023], which were more likely to develop Richter transformation [8/11 (72.7%) <i>vs</i> 4/25 (16.0%), <i>P</i>=0.002]. In the patient cohort, 36 individuals (36/36, 100.0%) used the IGK variable, whereas 15 individuals (15/36, 41.7%) employed the IGL variable (IGLV). IGLV3 - 21 reported the highest utilization rate in IGLV (5/15, 33.3%). Remarkably, patients with CLL with IGLV3-21 fragments were exclusively observed in the Binet C stage and Rai Phase Ⅲ-Ⅳ, with an incidence of del (13) (q14) at 60.0% (3/5). The median time to first treatment (TTFT) of patients with or without IGLV3 - 21 fragments was 5.2 (1.1 - 41.5) and 9.9 (0.1 - 94.4) months, respectively. Using the total reads threshold of 2.5%, 4 (4/36, 11.1%) samples were detected to have two IGHV productive clones. The median TTFT and overall survival (OS) time were 2.8 (0.9-72.7) and 12.8 months in patients with one mutated clone and 57.5 (32.0-120.7) and 51.8 months in those with two mutated clones, respectively. The median TTFT and OS time were 10.9 (0.3-94.4) and 6.3 (0.1 - 12.5) months in patients with one unmutated clone and 49.9 (22.2 - 211.1) and 30.0 (9.6 - 50.3) months in those with multiple unmutated clones, respectively (<i>P</i>>0.05) . <b>Conclusions:</b> Detection of IG gene rearrangements using NGS technology not only facilitates the analysis of the IGHV mutation status, dominant clones, and prognostic value but also contributes to the exploration of IGK/IGL gene rearrangement fragments and the utilization of subclones. Further, it provides information about the poor prognosis of IGLV3 - 21 CLL. The shortened survival of the two unmutated clone groups in the IGHV unmutated group may indicate a poor prognosis.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"46 3","pages":"261-268"},"PeriodicalIF":0.0,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12038473/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144052688","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}

{"title":"[Clinical characteristics and treatment outcomes of adult patients with phytosterolemia presenting with Thrombocytopenia].","authors":"Y J Hu, W L Chen, M Xue, Y J Ding, H Mei, Y D Wang","doi":"10.3760/cma.j.cn121090-20240710-00257","DOIUrl":"10.3760/cma.j.cn121090-20240710-00257","url":null,"abstract":"<p><p><b>Objective:</b> To analyze the clinical characteristics of adult patients with phytosterolemia presenting with thrombocytopenia as the initial manifestation. <b>Methods:</b> A retrospective analysis was conducted on eight adult patients with phytosterolemia who visited Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, from December 2020 to December 2023. <b>Results:</b> ① The participants consisted of 2 (25%) male and 6 (75%) female patients, with a median age at diagnosis of 55 years (range: 29-66 years). The median duration from the discovery of thrombocytopenia to diagnosis was 10 years (range: 0.2-50 years). ② Compared with the normal control group (30 healthy adult volunteers) and the immune thrombocytopenia (ITP) control group (20 patients with ITP), patients with phytosterolemia exhibited significantly higher mean platelet volume and large platelet ratio. Peripheral blood smears revealed that the mean platelet diameter and the proportion of large platelets (diameter> 4 μm) were significantly higher in patients with phytosterolemia than those in the normal and ITP control groups (<i>P</i><0.01). ③ After a low-plant-sterol diet and ezetimibe treatment, five patients demonstrated decreased serum sitosterol and campesterol levels, increased hemoglobin concentration and platelet counts, and reduced platelet volume. <b>Conclusion:</b> Adult-onset phytosterolemia presenting with thrombocytopenia as the initial manifestation is prone to misdiagnosis. The presence of hemolytic anemia, splenomegaly, increased large platelets and schistocytes on peripheral blood smears, and xanthomas are crucial diagnostic indicators. Restricting dietary plant sterol intake and using ezetimibe to inhibit sterol absorption effectively lowers serum plant sterol levels and improves hematological abnormalities.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"46 3","pages":"238-243"},"PeriodicalIF":0.0,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12038474/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036780","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}