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

{"title":"[KMT2A::TBC1D5 positive early T-cell precursor acute lymphoblastic leukemia: a case report].","authors":"Y Y Li, D Xu, R P Hu, Y Tang, X X Zhao, X L Liu, H Lin, S J Gao","doi":"10.3760/cma.j.cn121090-20250115-00031","DOIUrl":"10.3760/cma.j.cn121090-20250115-00031","url":null,"abstract":"","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"46 7","pages":"667"},"PeriodicalIF":0.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12439723/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144971773","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":"[Luspatercept combined with roxadustat in the treatment of refractory myelodysplastic neoplasms with ring sideroblasts: a prospective, randomized, single-center study].","authors":"X Y Lu, Z X Zhang, Z W Liu, C Yang, M Chen, B Han","doi":"10.3760/cma.j.cn121090-20241126-00484","DOIUrl":"10.3760/cma.j.cn121090-20241126-00484","url":null,"abstract":"<p><p><b>Objective:</b> To evaluate the efficacy and safety of luspatercept combined with roxadustat in patients with refractory low-risk myelodysplastic neoplasms with ring sideroblasts (MDS-RS) patients. <b>Methods:</b> In this single-center, prospective, randomized controlled trial, patients with refractory MDS-RS were randomly assigned in a 1:2 ratio to receive either combination therapy (luspatercept + roxadustat) or luspatercept monotherapy. The primary endpoint was erythroid response at 12 weeks, while secondary endpoints included erythroid response at 24 weeks, achievement of transfusion independence ≥8 weeks within the first 12 weeks, and other hematologic indicators. <b>Results:</b> The combination therapy and monotherapy groups included 16 and 32 patients, respectively. Baseline demographic characteristics, laboratory tests, IPSS-R risk classification, transfusion burden, EPO levels, and previous treatment history were comparable between the two groups (<i>P</i>>0.05). With similar doses of luspatercept and follow-up durations, no significant differences were observed between the groups at either 12 or 24 weeks in terms of erythroid response, transfusion independence, or other clinical indicators (all <i>P</i>-values>0.05). The incidence of adverse events was similar in both groups (all <i>P</i>-values>0.05) . <b>Conclusion:</b> Luspatercept combined with roxadustat shows comparable efficacy and safety to luspatercept monotherapy in the treatment of refractory low-risk MDS-RS. Clinical trial register: Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing (K3697).</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"46 7","pages":"625-630"},"PeriodicalIF":0.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12439732/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144971857","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":"[Myeloid/lymphoid neoplasm with ETV6::ABL1 fusion: a case report and literature review].","authors":"W W Li, Y Liu, Q Jiang","doi":"10.3760/cma.j.cn121090-20250122-00040","DOIUrl":"10.3760/cma.j.cn121090-20250122-00040","url":null,"abstract":"<p><p>To enhance understanding of myeloid/lymphoid neoplasms with ETV6:: ABL1 fusion, we retrospectively analyzed the clinical data of a patient with myeloid lymphoid neoplasms with ETV6:: ABL1 fusion. A review of the relevant literature was also conducted. The patient, a 33-year-old male, presented with a \"10-month history of fatigue\" and was initially diagnosed with \"atypical chronic myeloid leukemia\" following comprehensive clinical evaluation. Treatment with imatinib (400 mg once daily) was initiated. Based on findings from the literature and in accordance with the \"World Health Organization 5th edition classification of hematopoietic and lymphoid tumors\" and \"the 2022 International Consensus Classification,\" the diagnosis was revised to \"myeloid/lymphoid neoplasm with ETV6:: ABL1 fusion (M/LN-ETV6::ABL1) .\" Following treatment, the patient's fatigue significantly improved, and the fusion gene became undetectable. M/LN-ETV6:: ABL1 fusion are extremely rare and often clinically resemble CML, making them susceptible to misdiagnosis and underdiagnosis.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"46 7","pages":"660-662"},"PeriodicalIF":0.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12439725/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144971878","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":"[Immune microenvironment of Langerhans cell histiocytosis: from immune suppression to targeted therapy].","authors":"Z Z Liu, X X Cao","doi":"10.3760/cma.j.cn121090-20241030-00425","DOIUrl":"10.3760/cma.j.cn121090-20241030-00425","url":null,"abstract":"<p><p>Langerhans cell histiocytosis (LCH) is a rare hematologic disorder characterized by the clonal proliferation of neoplastic dendritic cells (DCs), exhibiting both immature and senescent immune phenotypes. The immunosuppressive microenvironment in LCH includes an increased proportion of regulatory T (Treg) cells with inhibitory functions, as well as exhausted CD8(+) T cells and myeloid-derived suppressor cells, which collectively exacerbate immunosuppression and facilitate the immune evasion of tumor DCs. Current therapeutic approaches for LCH are limited by the challenges of relapse and drug resistance. However, emerging strategies that target the senescent phenotype of neoplastic DCs, inhibit Treg cell activity, and reverse T cell exhaustion through immune checkpoint blockade offer promising avenues for the treatment of LCH.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"46 7","pages":"673-678"},"PeriodicalIF":0.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12439734/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144971749","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 of venetoclax combined with tyrosine kinase inhibitors and reduced-dose chemotherapy in 13 cases of minimal residual disease-positive and relapsed/refractory Ph(+) acute lymphoblastic leukemia].","authors":"H Ai, T T Liang, Q Wang, H F Wu, Q S Yin","doi":"10.3760/cma.j.cn121090-20241202-00521","DOIUrl":"10.3760/cma.j.cn121090-20241202-00521","url":null,"abstract":"<p><p>This study sought to evaluate the efficacy and safety of venetoclax (Ven) in combination with tyrosine kinase inhibitors (TKI) and reduced-dose chemotherapy for the treatment of patients with minimal residual disease (MRD) -positive and relapsed/refractory (R/R) Ph-positive acute lymphoblastic leukemia (Ph(+) ALL). A retrospective analysis was conducted on the clinical data of 13 patients with MRD-positive and relapsed Ph(+) ALL admitted between July 2015 and February 2024 at the Affiliated Cancer Hospital of Zhengzhou University. The cohort included seven males and six females, with a median age of 50 years (range: 37-71 years). Reinduction therapy consisted of Ven and TKI administration combined with reduced-dose chemotherapy. Among the 13 patients, 10 were MRD-positive, and three had R/R disease. Of the MRD-positive group, nine (90%) achieved complete molecular response (CMR), with a median time to response of 47 days (range: 30-80) ; one patient did not respond. Among the three patients who had R/R, two (66.6%) achieved complete remission, while one patient was nonresponsive. The median overall survival (OS) and relapse-free survival (RFS) time for the entire cohort were 21.5 months and 7 months, respectively. In patients who achieved CMR, the median OS and RFS time were 35 months and 34 months, respectively. Grade ≥3 hematologic adverse events occurred in five patients (38.4%) ; however, hematopoietic function recovered in all cases, and no grade ≥3 infections or organ-related adverse reactions were observed. These findings suggest that Ven combined with TKI and reduced-dose chemotherapy may be an effective and tolerable therapeutic strategy for MRD-positive and R/R Ph(+) ALL, particularly in significantly improving MRD clearance rates.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"46 7","pages":"655-659"},"PeriodicalIF":0.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12439726/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144971833","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 diagnosis and differential diagnosis of indolent B-cell lymphomas in China (2025)].","authors":"","doi":"10.3760/cma.j.cn121090-20250220-00081","DOIUrl":"10.3760/cma.j.cn121090-20250220-00081","url":null,"abstract":"<p><p>Indolent B-cell lymphoma (iBCL) represents a group of mature B-cell clonal proliferative disorders that frequently involve the peripheral blood and bone marrow. In light of the fifth edition of the World Health Organization (WHO) classification of haematolymphoid tumors published in 2022, some changes have been introduced in the classification and nomenclature of certain iBCL subtypes. Accordingly, in this consensus, the disease spectrum of iBCL was reclassified based on the 2022 WHO framework. Reflecting this update, the Chinese expert consensus on the diagnosis of B-cell chronic lymphoproliferative disorders has been formally renamed as expert consensus on the diagnosis and differential diagnosis of indolent B-cell lymphomas in China. This consensus has been revised by the Hematological Oncology Committee of China Anti-Cancer Association, Lymphoid Disease Group, Chinese Society of Hematology, Chinese Medical Association, and Chinese Working Group for indolent lymphoma, following extensive discussions among domestic experts in hematologic oncology and pathology, with the goal of aligning with current clinical practice.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"46 7","pages":"601-610"},"PeriodicalIF":0.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12439736/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144971814","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 study on intravenous human immunoglobulin (pH4) for hypogammaglobulinemia and infection risk following CD20 monoclonal antibody therapy in patients with B-cell non-Hodgkin lymphoma].","authors":"X K Li, Y F Shen, D P Wu, Y Xu","doi":"10.3760/cma.j.cn121090-20240918-00353","DOIUrl":"10.3760/cma.j.cn121090-20240918-00353","url":null,"abstract":"&lt;p&gt;&lt;p&gt;&lt;b&gt;Objective:&lt;/b&gt; To observe the effect of intravenous human immunoglobulin (pH4) (IVIg) on total immunoglobulin (Ig) levels in patients with B-cell non-Hodgkin lymphoma (NHL) and to evaluate its clinical efficacy in ameliorating hypogammaglobulinemia following CD20 monoclonal antibody therapy. &lt;b&gt;Methods:&lt;/b&gt; Clinical data of 98 patients with B-cell NHL who developed hypogammaglobulinemia after CD20 monoclonal antibody therapy and were hospitalized in the Department of Hematology, The First Affiliated Hospital of Soochow University, from January 2018 to June 2022, were retrospectively analyzed. Patients were divided into the IVIg group (&lt;i&gt;n&lt;/i&gt;=70) and the conventional treatment group (&lt;i&gt;n&lt;/i&gt;=28). To exclude the interference of plasma transfusion on total Ig levels, statistical analysis was performed on the IVIg group without plasma transfusion (&lt;i&gt;n&lt;/i&gt;=53) and the conventional treatment group (&lt;i&gt;n&lt;/i&gt;=25). The therapeutic efficacy of IVIg was analyzed by observing its effect on elevating total Ig levels and the duration of this effect. The infection control efficacy of IVIg was assessed by comparing other blood biochemical parameters. The safety of IVIg in clinical application was also evaluated. &lt;b&gt;Results:&lt;/b&gt; In the IVIg group, the mean total Ig level within 1-3 days after IVIg treatment was (20.67±4.17) g/L, significantly higher than the pre-treatment level of (17.16±1.76) g/L (&lt;i&gt;P&lt;/i&gt;&lt;0.001). In 22 patients from the IVIg group, total Ig levels at 1-7 days, 8-14 days, and 15-30 days post-treatment were all significantly different compared to pre-treatment levels (all &lt;i&gt;P&lt;/i&gt;&lt;0.001). In the conventional treatment group, the mean total Ig level within 1-3 days after hospitalization showed no significant difference compared to the level at admission [ (18.12±1.84) g/L &lt;i&gt;vs&lt;/i&gt; (18.43±1.79) g/L, &lt;i&gt;P&lt;/i&gt;&gt;0.05]. The proportion of patients in the IVIg group whose total Ig level reached 20 g/L within 1-3 days post-IVIg treatment was significantly higher than that in the conventional treatment group within 1-3 days after admission (57.69% &lt;i&gt;vs&lt;/i&gt; 0, &lt;i&gt;P&lt;/i&gt;&lt;0.001). In 12 patients from the IVIg group with baseline neutrophil levels below normal, neutrophil levels at 1-3 days, 4-7 days, and 8-14 days post-treatment were significantly increased compared to pre-treatment levels (all &lt;i&gt;P&lt;/i&gt;&lt;0.05). The proportion of patients with new-onset infections post-treatment was lower in the IVIg group (22.64%, 12/53) than in the conventional treatment group (36.00%, 9/25), although the difference was not statistically significant (&lt;i&gt;P&lt;/i&gt;&gt;0.05). Among 70 patients in the IVIg group, 8 patients experienced grade 1-2 adverse reactions, including nausea and vomiting in 5 patients, rash in 2 patients, and muscle/joint pain in 1 patient. No grade 3 or higher adverse reactions were observed. &lt;b&gt;Conclusion:&lt;/b&gt; IVIg increased Ig and neutrophil levels in patients with B-cell NHL after CD20 monoclonal antibody therapy and may play a role in controlling ","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"46 5","pages":"425-430"},"PeriodicalIF":0.0,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268296/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144584978","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":"[Establishment of a chronic lymphocytic leukemia mouse model via adoptive transfer of Eμ-TCL1 transgenic splenocytes].","authors":"M X Zhang, S Guo, Abudukelimu Nadiya, Alimu Xierenguli, R Zhang, X J Zeng, L Y Zhang, R R Zhang, J H Qu","doi":"10.3760/cma.j.cn121090-20241120-00461","DOIUrl":"10.3760/cma.j.cn121090-20241120-00461","url":null,"abstract":"<p><p><b>Objective:</b> To generate a chronic lymphocytic leukemia (CLL) mouse model with intact immune competence and short latency by adoptively transferring (AT) splenocytes from immunoglobulin heavy-chain enhancer-driven T-cell leukemia/lymphoma 1 (Eμ-TCL1) transgenic donors into wild-type (WT) recipients. <b>Methods:</b> Specific pathogen-free C57BL/6J WT mice and H11-Eμ-VH-TCL1-β-globin-PolyA knock-in mice were utilized. The H11-Eμ-VH-TCL1-β-globin-PolyA knock-in mice were generated using CRISPR/Cas9 technology, and their genotypes were confirmed by PCR. Experimental animals were randomly divided into an adoptive transfer (AT) group and a WT control group (<i>n</i>=10 per group). Mice in the AT group received an intraperitoneal injection of splenocytes from H11-Eμ-VH-TCL1-β-globin-PolyA knock-in mice. The weight and general condition of the mice were monitored. Mice were euthanized by cervical dislocation at 9 weeks post-transplantation. The CLL model was validated using key indicators, including pathological manifestations, changes in peripheral blood leukocyte counts, and immunophenotype. <b>Results:</b> AT group mice exhibited significantly increased spleen weight [ (0.92±0.16) g <i>vs</i> (0.06±0.01) g in WT group, <i>P</i><0.05] and liver weight [ (2.11±0.56) g <i>vs</i> (1.42±0.13) g in WT group, <i>P</i>=0.006], indicative of marked splenomegaly and hepatomegaly. The peripheral blood leukocyte count was significantly higher in the AT group [ (124.33±8.74) ×10(9)/L] compared to the WT group [ (5.55±1.67) ×10(9)/L] (<i>P</i>=0.002). Similarly, the percentage of peripheral blood B lymphocytes was markedly increased in the AT group versus the WT group [ (69.13±6.88) % <i>vs</i> (39.78±5.94) %, <i>P</i><0.05]. Histopathological examination revealed CLL manifestations in the spleen, lymph nodes, and bone marrow of AT group mice, with significant lymphocytic infiltration observed in the liver, lung, and kidney tissues. Flow cytometry analysis showed that the percentages of CD19(+)CD5(+) B lymphocytes among total lymphocytes in peripheral blood, bone marrow, and spleen of the AT group were (61.37±9.92) %, (28.61± 7.08) %, and (86.03±5.78) %, respectively. These were significantly higher (all <i>P</i><0.05) than in the WT group [ (4.51±1.32) %, (5.58±1.46) %, and (14.33±3.20) %]. Furthermore, these CLL-like cells in the AT group were positive for CD43 and CD200, but showed lower expression of CD20, CD22, and CD79b compared to WT B cells. <b>Conclusion:</b> Adoptive transfer of splenocytes from Eμ-TCL1 transgenic mice successfully established a CLL mouse model with a relatively short latency period. This model represents a valuable preclinical tool for investigating CLL and related pathologies.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"46 5","pages":"445-452"},"PeriodicalIF":0.0,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268288/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144584980","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":"[Retrospective clinical analysis of eculizumab treatment for hematopoietic stem cell transplantation-associated thrombotic microangiopathy: a report of 11 cases].","authors":"X Y Luo, R Ma, H F Wang, L Bai, Y He, Y Y Zhang, T T Han, D X Deng, Y Y Chen, W Han, X H Zhang, L P Xu, Y Wang, X J Huang, Y Q Sun","doi":"10.3760/cma.j.cn121090-20240722-00273","DOIUrl":"10.3760/cma.j.cn121090-20240722-00273","url":null,"abstract":"<p><p><b>Objective:</b> To evaluate the efficacy of eculizumab in treating hematopoietic stem cell transplantation-associated thrombotic microangiopathy (TA-TMA) . <b>Methods:</b> This retrospective study included 11 patients who developed TA-TMA after allogeneic hematopoietic stem cell transplantation and subsequently received eculizumab treatment at Peking University People's Hospital between June 2018 and May 2024. The incidence of TA-TMA, treatment details, and clinical outcomes were analyzed. <b>Results:</b> Among the 11 included patients [4 males, 7 females; median age: 29 years (range: 9-56) ], underlying diseases were severe aplastic anemia (SAA) in 5 patients, acute lymphoblastic leukemia (ALL) in 3 patients, and acute myeloid leukemia (AML) in 3 patients. The median time to TA-TMA diagnosis was 48 days post-transplantation (range: 4-213 days), and all patients met the diagnostic criteria for high-risk TA-TMA. The median interval from TA-TMA diagnosis to the initiation of eculizumab treatment was 12 days (range: 1-56 days). Patients received a median of 3 doses of eculizumab (range: 1-14). Ten of the 11 patients were assessed as having no response (NR) to eculizumab at the end of treatment or at death. One patient achieved a partial response (PR) but subsequently died after TA-TMA relapsed due to infection. At the last follow-up, all patients were either lost to follow-up or had died. The median follow-up duration was 88 days (range: 33-326 days), and the median time from TA-TMA diagnosis to the last follow-up was 31 days (range: 21-113 days) . <b>Conclusion:</b> Eculizumab demonstrated poor efficacy in this TA-TMA cohort. This might be attributable to the critical and complex condition of the patients, delayed initiation of eculizumab treatment, and insufficient dosage.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"46 5","pages":"431-436"},"PeriodicalIF":0.0,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268299/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144584983","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":"[Avapritinib for systemic mastocytosis with an associated myelodysplastic/myeloproliferative neoplasm: a case report and literature review].","authors":"Y W Tang, L J Pan, F H Li, Z J Xiao, Z F Xu","doi":"10.3760/cma.j.cn121090-20241011-00389","DOIUrl":"10.3760/cma.j.cn121090-20241011-00389","url":null,"abstract":"<p><p>Systemic mastocytosis (SM) with an associated myelodysplastic/myeloproliferative neoplasm (MDS/MPN) is a rare subtype of myeloid neoplasms. Avapritinib, a potent and selective inhibitor of KIT D816V, is approved for treating advanced systemic mastocytosis (AdvSM). We report a case of a patient with SM and an associated MDS/MPN treated with avapritinib. The patient achieved sustained complete remission (CR) of SM, with persistent molecular negativity for the KIT D816V mutation, but ultimately succumbed to disease progression to chronic myelomonocytic leukemia (CMML). Although avapritinib, a novel targeted therapy, has significantly improved outcomes for SM, the efficacy of treatment for the associated hematologic neoplasm in patients with SM-AHN may be the primary determinant of long-term overall survival and progression-free survival. This report includes a review of relevant literature to provide insights into the clinical diagnosis and management of this rare entity.</p>","PeriodicalId":24016,"journal":{"name":"Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi","volume":"46 5","pages":"468-472"},"PeriodicalIF":0.0,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268300/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585039","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}