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

{"title":"[Familial hemophagocytic lymphohistiocytosis presenting initially as autoimmune lymphoproliferative syndrome: a case report].","authors":"H Zhang, R Lyu, Y J Jia, R X Zhang, G An","doi":"10.3760/cma.j.cn121090-20251221-00607","DOIUrl":"10.3760/cma.j.cn121090-20251221-00607","url":null,"abstract":"","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"47 5","pages":"493"},"PeriodicalIF":0.0,"publicationDate":"2026-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13416530/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148397681","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 prognosis of myelodysplastic neoplasms with GATA2 mutations].","authors":"J Tang, Y J Jia, T J Qin, Z F Xu, S Q Qu, L J Pan, Q Y Gao, M Jiao, H Q Xu, Z F Bao, L L Liu, F H Li, S Y Zhao, X Wang, N N Liu, W B An, Z J Xiao, B Li","doi":"10.3760/cma.j.cn121090-20260111-00019","DOIUrl":"10.3760/cma.j.cn121090-20260111-00019","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinical characteristics and prognosis of myelodysplastic neoplasms (MDS) patients with GATA2 mutations. <b>Methods:</b> This was a retrospective cohort study. Clinical data of 1 365 MDS patients who were diagnosed at the Institute of Hematology and Blood Diseases Hospital from September 2016 to August 2024 were collected. Retrospective analysis was conducted to evaluate the clinical features, laboratory characteristics, and overall survival (OS) of MDS patients with GATA2 mutations. <b>Results:</b> ① Among the 1 365 MDS patients, 69 (5.1%) carried pathogenic/likely pathogenic GATA2 mutations, including 14 (1.0%) with germline/likely germline mutations and 47 (3.4%) with somatic mutations. Null variants predominated in the germline/likely germline group [50.0% (7/14) ], whereas missense mutations were common in the somatic group [76.8% (43/56) ]. ② The median age at diagnosis was significantly younger in the germline/likely germline group than in the somatic mutation group [34 (13-68) years <i>vs</i> 55 (27-73) years, <i>P</i>=0.002]. The GATA2 germline/likely germline group had a significantly higher frequency of STAG2 mutations than the wild-type group [42.9% (6/14) <i>vs</i> 3.2% (41/1 296), <i>P</i><0.001], whereas the somatic mutation group showed significantly higher frequencies of RUNX1 (21.3% <i>vs</i> 9.7%), BCOR (19.2% <i>vs</i> 5.9%), and SF3B1 (31.9% <i>vs</i> 10.6%) mutations (all <i>P</i><0.05). Both GATA2 mutation groups had a significantly higher incidence of +8 karyotype than the wild-type group [germline/likely germline group: 35.7% (5/14) <i>vs</i> 14.2% (164/1 158), <i>P</i>=0.039; somatic mutation group: 26.1% (12/46) <i>vs</i> 14.2% (164/1 158), <i>P</i>=0.025]. ③ The proportion of patients with increased blasts (bone marrow blasts ≥5% or peripheral blood blasts ≥2% or presence of Auer rods) was significantly higher in the somatic mutation group than in the germline/likely germline group [74.5% (35/47) <i>vs</i> 21.4% (3/14), <i>P</i><0.001]. ④ Among the patients with MDS aged <60 years, the somatic GATA2 mutation group had a significantly shorter median OS than the wild-type group[20 (95% <i>CI</i>: 12-27) months vs not reached, <i>P</i>=0.005]. Multivariate analysis revealed that GATA2 somatic mutation was an independent poor prognostic factor beyond the IPSS-M scoring system in patients with MDS aged <60 years (<i>HR</i>=2.43, 95% <i>CI</i>: 1.27-4.65, <i>P</i>=0.007) . <b>Conclusion:</b> Patients with germline and somatic GATA2 mutations exhibit distinct molecular and clinical profiles. GATA2 somatic mutation is an independent poor prognostic factor in patients with MDS aged <60 years.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"47 5","pages":"465-472"},"PeriodicalIF":0.0,"publicationDate":"2026-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13416548/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148397214","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":"[Chinese guidelines on the diagnosis and treatment of adult essential thrombocythemia (2026)].","authors":"","doi":"10.3760/cma.j.cn121090-20260212-00089","DOIUrl":"10.3760/cma.j.cn121090-20260212-00089","url":null,"abstract":"<p><p>Essential thrombocythemia (ET) is a classic Philadelphia chromosome-negative myeloproliferative neoplasm characterized by excessive proliferation of bone marrow megakaryocytes and sustained elevation of peripheral blood platelet counts. The primary clinical risks include thrombotic and bleeding events, with a minority of patients experiencing the risk of progression to myelofibrosis or transformation to acute leukemia. In recent years, the demand for standardized diagnosis and treatment of ET has become increasingly prominent with advances in molecular testing, bone marrow pathology diagnosis, novel drug development, and clinical management. To provide actionable clinical practice guidance for hematologists in China, the Thrombosis and Hemostasis Group of the Chinese Society of Hematology, Chinese Medical Association, convened domestic experts to formulate this guideline, based on both international and domestic evidence-based medical evidence combined with expert consensus.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"47 5","pages":"409-423"},"PeriodicalIF":0.0,"publicationDate":"2026-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13416539/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148398056","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":"[Zanubrutinib in the treatment of Bing-Neel syndrome: two cases report].","authors":"Q Wang, Y L Kong, L Cao, S C Qin, J Y Li, L Fan, Y Xia, Y Miao","doi":"10.3760/cma.j.cn121090-20250907-00415","DOIUrl":"10.3760/cma.j.cn121090-20250907-00415","url":null,"abstract":"","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"47 5","pages":"490-491"},"PeriodicalIF":0.0,"publicationDate":"2026-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13416533/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148397910","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":"[Myeloproliferative neoplasm with a homozygous germline SH2B3 mutation: a case report and literature review].","authors":"W Zhang, R Li, J Tian, L J Jiang, J Bai, Y H Gu, Y Y Wang, Y Su, Y Q Li, Y M Xue, J M Chen, Y P Wei","doi":"10.3760/cma.j.cn121090-20251019-00472","DOIUrl":"10.3760/cma.j.cn121090-20251019-00472","url":null,"abstract":"<p><p>This study retrospectively analyzed the clinical data of the first reported case in China of myeloproliferative neoplasm (MPN) driven by a homozygous germline SH2B3 mutation, aiming to deepen the understanding of this rare MPN subtype. The patient was a 59-year-old female admitted due to intermittent fatigue and fever for 3 years, which had worsened 4 days prior to admission. Next-generation sequencing revealed a homozygous germline SH2B3 gene mutation (c.1481C>A, p.S494*) with a variant allele frequency (VAF) of 100%. Family analysis confirmed its germline origin, and her children were all heterozygous carriers of the SH2B3 mutation with normal phenotypes. Based on hematological examination and bone marrow pathology, MPN was definitively diagnosed. The main clinical manifestations included fever, night sweats, elevated WBC and PLT, and splenomegaly. As a negative regulator of JAK2, inactivating mutations in the SH2B3 gene lead to weakened negative regulation of the JAK2/STAT signaling pathway by the SH2B3 protein, thereby causing continuous activation of this pathway and inducing the development of MPN. After treatment with the JAK1/JAK2 inhibitor ruxolitinib 20 mg twice daily, the patient's body temperature returned to normal, fatigue and night sweats resolved, and spleen size decreased, demonstrating significant therapeutic efficacy.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"47 4","pages":"394-397"},"PeriodicalIF":0.0,"publicationDate":"2026-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13195548/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147983443","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":"[Chinese expert consensus on chimeric antigen receptor T-cell therapy for multiple myeloma (2026)].","authors":"","doi":"10.3760/cma.j.cn121090-20260114-00023","DOIUrl":"10.3760/cma.j.cn121090-20260114-00023","url":null,"abstract":"<p><p>Chimeric antigen receptor T-cell (CAR-T) immunotherapy has demonstrated favorable efficacy and reliable safety in relapsed/refractory multiple myeloma (MM). Since the publication of the first consensus, both the scope and depth of CAR-T clinical research and application in MM have significantly expanded. Notably, three novel B-cell maturation antigen (BCMA) -targeted CAR-T products have been approved by the National Medical Products Administration (NMPA) for clinical use. The development and application of CAR-T targeting novel targets such as GPRC5D have garnered significant attention. Breakthroughs have been achieved in salvage therapies for post-CAR-T relapse, while enhanced understanding has been gained regarding comprehensive management of the CAR-T treatment for MM. In light of these advancements, it is imperative to update the consensus guidelines on CAR-T therapy for MM to address evolving clinical requirements in this rapidly progressing field.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"47 4","pages":"319-326"},"PeriodicalIF":0.0,"publicationDate":"2026-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13195555/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147983358","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":"[Allogeneic hematopoietic stem cell transplantation for RASGRP2 gene-related inherited platelet function disorders: a case report and literature review].","authors":"C L Wang, L H Meng, W Xia, S Q Long, C Y Fang, X L Liang","doi":"10.3760/cma.j.cn121090-20250822-00394","DOIUrl":"10.3760/cma.j.cn121090-20250822-00394","url":null,"abstract":"<p><p>This study retrospectively analyzed a 4-year-and-8-month-old boy with RASGRP2-associated inherited platelet function disorders (IPFD) who was successfully treated with allogeneic hematopoietic stem cell transplantation, along with a review of the relevant literature. The patient presented with a 3-year history of recurrent epistaxis, and following comprehensive evaluation, he was diagnosed as having RASGRP2-related IPFD. Because of life-threatening bleeding risk and poor response to conventional treatment, an HLA-matched sibling without the pathogenic variant was selected as the donor, and a myeloablative conditioning regimen was administered. Platelet engraftment was achieved on Day 13 posttransplantation, and neutrophil and erythrocyte engraftment occurred on Day 18. Donor chimerism reached 99.7% on Day 22. Epistaxis during conditioning was controlled with nasal packing and platelet transfusion, and no bleeding recurred after platelet engraftment. At the 4-month follow-up, no graft-versus-host disease or severe infection was detected, and complete donor chimerism was confirmed.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"47 4","pages":"387-389"},"PeriodicalIF":0.0,"publicationDate":"2026-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13195546/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147983648","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":"[Efficacy and safety analysis of avapritinib in children with RUNX1::RUNX1T1 positive-acute myeloid leukemia with KIT mutations].","authors":"F Y Zheng, M M Ding, A D Lu, Y P Jia, H M Zeng, L P Zhang","doi":"10.3760/cma.j.cn121090-20251027-00482","DOIUrl":"10.3760/cma.j.cn121090-20251027-00482","url":null,"abstract":"<p><p><b>Objective:</b> To evaluate the efficacy and safety of avapritinib in children with RUNX1::RUNX1T1-positive acute myeloid leukemia (AML) with KIT mutations. <b>Methods:</b> Clinical data on children with RUNX1::RUNX1T1-positive AML with KIT mutations who received avapritinib at the Department of Pediatrics, Peking University People's Hospital, from September 2022 to June 2025 were collected. The overall response rate (ORR), event-free survival (EFS), overall survival (OS), and adverse reactions of avapritinib treatment were retrospectively analyzed. <b>Results:</b> Ten children (6 males, 4 females) with a median age of 6.5 years were enrolled. All carried KIT mutations (D816V, <i>n</i>=8; D816H, <i>n</i>=1; D816Y, <i>n</i>= 1). All children completed ≥1 cycle of avapritinib; 9 received ≥2 cycles, and 6 received ≥3 cycles. After cycle 1, the ORR was 80% (8/10), with 5 children achieving ≥1 log reduction in RUNX1::RUNX1T1. The ORR was 78% (7/9) after cycle 2 and 67% (4/6) after cycle 3. With a median follow-up of 10 months, the EFS rate were 90%, and the OS rate was 100%. During avapritinib treatment, 5 of the 10 children showed elevated levels of the RUNX1::RUNX1T1. During combination avapritinib and chemotherapy, adverse events were largely attributable to chemotherapy, manifesting as hematological adverse reactions, gastrointestinal reactions, and infections, all of which improved after symptomatic treatment. When avapritinib was used alone or with interferon, toxicity was mainly associated with grade 1-2 hematological adverse reactions; one case developed convulsions and improved after drug withdrawal and symptomatic treatment. <b>Conclusion:</b> Avapritinib provides a favorable initial response in children with RUNX1::RUNX1T1-positive AML harboring KIT mutations, enabling deeper molecular remission; however, response rates decline with prolonged treatment. Avapritinib has a favorable safety profile.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"47 4","pages":"352-357"},"PeriodicalIF":0.0,"publicationDate":"2026-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13195544/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147983404","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":"[ALK-positive histiocytosis in adults with undifferentiated uterine sarcoma: a case report].","authors":"J Q Xu, B B Lyu, W B Zhao, X Y Lin","doi":"10.3760/cma.j.cn121090-20251119-00538","DOIUrl":"10.3760/cma.j.cn121090-20251119-00538","url":null,"abstract":"","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"47 4","pages":"398"},"PeriodicalIF":0.0,"publicationDate":"2026-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13195543/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147983631","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":"[First-line treatment for chronic graft-versus-host disease: a real-world study].","authors":"X Q Dong, Y D He, S Q Huang, X Q Wang, R H Huang, X Zhang","doi":"10.3760/cma.j.cn121090-20250923-00435","DOIUrl":"10.3760/cma.j.cn121090-20250923-00435","url":null,"abstract":"<p><p><b>Objective:</b> To systematically evaluate the efficacy, safety, quality of life, and related influencing factors of first-line treatment in patients with chronic graft-versus-host disease (cGVHD) and to provide evidence-based support for optimizing treatment strategies. <b>Methods:</b> This single-center retrospective analysis involved 243 patients diagnosed as having cGVHD who received first-line treatment at the Second Affiliated Hospital of Army Medical University between January 2017 and December 2023. Of the patients, 159 (65.4% ) received the standard regimen (corticosteroids with or without calcineurin inhibitors), 51 (21.0% ) received corticosteroids plus a second-line agent (ruxolitinib or sirolimus), and 33 (13.6% ) did not receive corticosteroids as first-line therapy due to contraindications (ruxolitinib alone). The primary endpoints were the overall response rate (ORR) and failure-free survival (FFS) at 6 months after treatment. The secondary endpoints comprised organ-specific responses, survival rates, nonrelapse mortality (NRM), recurrence rates, and quality of life [assessed using the Lee Symptom Scale (LSS), the 36-Item Short Form Health Survey (SF-36), and the EuroQol 5-Dimension 5-Level instrument (EQ-5D-5L) ]. <b>Results:</b> At 6 months after treatment, 132 patients achieved complete or partial response to first-line therapy, yielding an ORR of 60% and an FFS of 73.6%. ORRs were higher in the joint/fascia (68.2% ) and the skin (66.4% ) and the lowest in the lungs (30.0% ). The median follow-up was 43.9 months, the 5-year overall survival rate was 80.0%, and the 5-year NRM was 7.5%. Both overall survival and nonrelapse mortality were significantly better in responders than in nonresponders (<i>P</i><0.01 and <i>P</i>=0.01, respectively). Multivariate analysis identified liver involvement as an independent risk factor for adverse treatment reactions (<i>OR</i>=0.506, <i>P</i>=0.021). Quality-of-life surveys indicated that the symptom burden was significantly lower in responders than in nonresponders (7.3±5.6 <i>vs</i> 12.3±7.8, <i>P</i>=0.01), whereas no significant between-group differences were observed in SF-36 physical and mental component scores or the EQ-5D-5L utility index. <b>Conclusion:</b> Glucocorticoid-based first-line treatment showed acceptable efficacy and reduced symptom burden in some patients with cGVHD. However, significant heterogeneity was observed in treatment responses among different organs, and liver involvement indicated poor prognosis.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"47 4","pages":"345-351"},"PeriodicalIF":0.0,"publicationDate":"2026-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13195549/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147983383","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}