To evaluate the real-world application of ivosidenib (IVO) in patients with IDH1-mutated acute myeloid leukemia (AML), as well as its efficacy and safety. We retrospectively analyzed clinical data from 16 patients with IDH1-mutated AML who received IVO-based therapy at Nanfang Hospital between September 2021 and May 2025. The median age was 57 years (range, 25 - 80 years), with 7 males and 9 females. Six patients (37.5%) had an Eastern Cooperative Oncology Group performance status of 3 - 4, and 14 patients (87.5%) were classified as intermediate- or high-risk according to the European LeukemiaNet criteria. Among 5 patients (31.2%) receiving venetoclax (VEN) plus azacitidine (AZA) combined with IVO for induction, 3 achieved complete remission (CR), including 2 with measurable residual disease (MRD) -negative and IDH1 dPCR-negative status. Two patients (12.5%) received VA plus IVO for consolidation; both maintained CR, with 1 achieving MRD-negative and IDH1 dPCR-negative status. Four relapsed or refractory patients (25.0%) received VEN plus hypomethylating agents (HMA) combined with IVO (n=3) or IVO alone (n=1) for salvage therapy. All patients achieved CR, of whom 3 obtained MRD-negative results, and 1 was IDH1 dPCR-negative. Five patients (31.2%) received IVO as maintenance therapy, with a duration of response exceeding 12 months. The most common grade ≥3 adverse events were neutropenia (56.3%), anemia (43.8%), and thrombocytopenia (37.5%). IVO-related adverse events included differentiation syndrome (12.5%) and QT interval prolongation (12.5%), and no treatment-related deaths were observed. IVO-based regimens demonstrated favorable efficacy and a manageable safety profile across all treatment phases in patients with IDH1-mutated AML, supporting their broader clinical application.
The clinical data of 57 patients with multiple myeloma (MM) who underwent autologous hematopoietic stem cell transplantation (auto-HSCT) at the Second Affiliated Hospital of Anhui Medical University from July 2020 to August 2025 were retrospectively analyzed. Peripheral blood lymphocyte subsets before transplantation were detected by flow cytometry. Multivariate analysis showed that a higher infused CD34(+)cell count (HR=0.739, P=0.043) and a higher proportion of regulatory T cells before transplantation (HR=0.728, P=0.009) were independent favorable prognostic factors for rapid neutrophil engraftment. A higher infused CD34(+)cell count (HR=0.849, P=0.042) and a higher pre-transplant NK cell count (HR=0.991, P=0.038) were independent favorable prognostic factors for rapid megakaryocyte engraftment. With a median follow-up of 9.9 (0.5-55.0) months, a higher ratio of CD4(+) T-cell percentage to CD8(+) T-cell percentage before transplantation was an independent risk factor for progression-free survival (HR=1.627, 95% CI: 1.159-2.284, P=0.005). This study demonstrated that lymphocyte subsets before auto-HSCT are associated with the speed of hematopoietic reconstitution and the risk of relapse in MM patients.
Objective: To analyze the causes of death in elderly patients after haploidentical stem cell transplantation (haplo-HSCT) . Method: This single-center retrospective cohort study included 404 patients aged >55 years who underwent haplo-HSCT at Peking University People's Hospital between January 3, 2019, and December 14, 2023, and analyzed the causes of death among those who died. Results: The last follow-up was October 11, 2025, with a median follow-up duration of 708 (12-2 343) days. A total of 139 patients died after transplantation, with a mortality rate of 34.4%. Relapse was the leading cause of death (40.3%), followed by infection (33.8%) and graft-versus-host-disease (11.5%). Subgroup analysis revealed that relapse was the primary cause of death in patients with myeloid malignancies, whereas infection was most common in those with lymphoid malignancies. Patients in non-remission and those with minimal residual disease-positive status exhibited higher relapse death rates, representing the predominant cause of death. Factors such as patient age, HCT-CI, donor-specific antibody status, conditioning regimens, stem cell source, and post-transplantation phases did not significantly influence the causes of death. Conclusion: Relapse and infection remain the primary causes of death in older patients following haplo-HSCT.
To evaluate the efficacy and safety of glofitamab combined with polatuzumab vedotin in the treatment of relapsed/refractory diffuse large B-cell lymphoma (R/R DLBCL) after failure of chimeric antigen receptor T (CAR-T) cell therapy. Nine patients with R/R DLBCL who failed CAR-T therapy and received glofitamab combined with polatuzumab vedotin treatment at the Hematology Department of Tianjin First Central Hospital from March 2024 to April 2025 were selected for retrospective analysis of their clinical data. The overall response rate was 77.8%, and the complete response rate was 55.6% following six cycles of treatment. The median follow-up period was 12 (5-18) months. The 1-year progression-free survival rate and overall survival rate were 71.1% (95% CI: 56.3%-86.1%) and 76.2% (95% CI: 64.0%-94.2%), respectively. All 9 patients experienced cytokine release syndrome, with 7 cases at grade 1-2 and 2 cases at grade 3. One patient had grade 1 immune effector cell-associated neurotoxicity syndrome. Glofitamab combined with polatuzumab vedotin shows preliminary efficacy and a manageable safety in patients with R/R DLBCL after CAR-T cell therapy failure.
Objective: To validate and compare the applicability of the international prognostic score for ET (IPSET), the mutation-enhanced international prognostic systems for ET (MIPSS-ET), triple A (AAA), and triple A plus (AAA+) survival prognostic scoring systems in Chinese patients with essential thrombocythemia (ET) . Methods: In this external validation and comparative study of clinical prediction models, 423 patients with ET who visited the Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College between January 2015 and December 2022 were retrospectively analyzed. Risk stratification was performed using the IPSET, MIPSS-ET, AAA, and AAA+ survival prognostic scoring systems. Harrell's concordance index (C-index), Brier score, net reclassification improvement (NRI), and integrated discrimination improvement (IDI) were used to comprehensively evaluate and compare the predictive discrimination, calibration, and risk restratification efficacy of each model for overall survival (OS) . Results: The median age at diagnosis of the enrolled patients was 50 years [interquartile range (IQR) : 34-62], and 60.8% (257 cases) were female. Overall, 22.0% (93 cases) of the patients had a history of thrombosis prior to diagnosis. The mutation frequencies of the driver genes JAK2V617F, CALR, and MPL were 56.7% (240 cases), 17.0% (72 cases), and 5.4% (23 cases), respectively, while 21.3% (90 cases) of the patients had no driver gene mutations. After a median follow-up of 63.1 (95% CI: 60.9-68.5) months, 16 patients (3.8% ) died during the follow-up period, with an estimated 5-year OS rate of (97.4±0.8) %. IPSET, MIPSS-ET, AAA, and AAA+ scoring systems could effectively discriminate the OS of patients in different risk groups (all P<0.001) ; the C-index for OS prediction was 0.756 for IPSET, 0.775 for MIPSS-ET, 0.762 for AAA, and 0.823 for AAA+, and the 5-year Brier scores were 0.023 5, 0.022 7, 0.023 2, and 0.022 6, respectively. Regarding risk restratification, the NRI of the AAA+ scoring system compared with the IPSET, MIPSS-ET, and AAA systems were 0.486, 0.352, and 0.268, respectively. The AAA+ system could accurately reclassify some patients who were categorized as low- or intermediate-risk by other systems into higher-risk groups, and the actual OS of these up-stratified patients was significantly inferior to that of the non-up-stratified group. Conclusions: The IPSET, MIPSS-ET, AAA, and AAA+ survival prognostic scoring systems are all effective for assessing survival risk in Chinese patients with ET. Among them, the AAA+ system exhibited optimal discrimination, calibration, and more accurate risk restratification efficacy in OS prediction, making it more suitable for individualized survival prognostic assessment in the Chinese ET population.
Graft-versus-host disease (GVHD) remains a severe complication after allogeneic hematopoietic stem cell transplantation, and effective treatment options remain limited, particularly for patients with steroid-refractory GVHD or failure of multiple lines of therapy. Mesenchymal stem cell (MSC) therapy has shown promise for the prevention and treatment of GVHD because of the low immunogenicity and immunomodulatory, anti-inflammatory, and tissue-reparative properties of MSC. To date, MSC-based products have been approved for the treatment of acute GVHD (aGVHD) in several countries, including China. Although MSC therapy is generally well tolerated, its broader clinical application remains challenged by substantial interindividual variability in therapeutic response, potential safety concerns, and the lack of harmonized standards for manufacturing and quality control. This review systematically summarizes recent clinical research on MSC-based interventions for GVHD and critically discusses their therapeutic prospects and current limitations, with the aim of informing standardized and precision-oriented clinical application of MSC therapy.
Objective: To evaluate the capability of digital PCR (dPCR) in detecting the internationally standardized BCR::ABL1 (P210) mRNA (BCR::ABL1(IS)) of patients with chronic myeloid leukemia through inter-laboratory sample distribution and comparison. Methods: This was a multi-center compatative trial study. A total of 37 samples with different BCR::ABL1(IS) levels were uniformly prepared from patient bone marrow or peripheral blood to be discarded for comparison. Among them, 22 samples were used for real-time reverse transcription quantitative PCR (RQ-PCR) detection to revalidate the conversion factor (CF), whereas another 15 samples, along with 6 samples used in RQ-PCR, were used for dPCR comparison. Peking University People's Hospital determined the validity of its own dPCR and RQ-PCR CFs by detecting World Health Organization international standards. Bland-Altman analysis was conducted to validate the CFs of participating laboratories. If no validated CF was available, the new CF was calculated using the current comparison samples, and its validity was assessed. Results: Among the 14 laboratories participating in the dPCR comparison, 13 detected BCR::ABL1 in all samples. Among the 13 laboratories participating in the RQ-PCR comparison, 5 had validated CFs, whereas the other 8 had validated CFs after recalculating. In the dPCR comparison, 11 laboratories used the same commercial kit, and 10 of them were qualified. Further, 1 laboratory used a laboratory-developed testing reagent and obtained a CF using the standard sample from the National Clinical Laboratory Center, which was also qualified, whereas the 2 laboratories with no CFs both had qualified CFs after calculating. Comparison of results from samples simultaneously performing dPCR and RQ-PCR demonstrated that the BCR::ABL1(IS) results derived from their respective qualified CFs showed no significant difference for each laboratory (all P≥0.1). However, among the 6 laboratories with unqualified original CFs in RQ-PCR, 2 showed significant differences between dPCR results and RQ-PCR results derived from the original CFs (P<0.05), and 3 demonstrated tendencies toward significant differences (P>0.05 to <0.1) . Conclusion: dPCR detection of BCR::ABL1(IS) shows high sensitivity and accuracy and has high consistency with RQ-PCR results.
DDX41 mutations represent one of the most frequent germline mutations in patients with myelodysplastic neoplasms, conferring unique clinical features of age of onset, prognosis, pathogenic mechanisms, and treatment response. This review summarizes the molecular epidemiology and clinical features of germline DDX41-mutated MDS, with a particular focus on recent advances in the "second-hit" model underlying disease pathogenesis. We further review the efficacy of current therapeutic strategies and discuss the applicability and limitations of existing prognostic scoring systems for this unique patient population. This review aims to provide an updated overview of current evidence and to inform risk stratification, clinical management, and long-term care of patients with germline DDX41-mutated MDS.
To investigate the clinicopathological features, molecular genetic characteristics, and efficacy of chemotherapy regimens with different intensities in high-grade B-cell lymphoma with aberrations in the long arm of chromosome 11 (HGBCL-11q), this study retrospectively analyzed the data of 51 patients with HGBCL-11q at Henan Cancer Hospital, summarized their clinical, pathological and molecular profiles, and compared the differences in therapeutic efficacy and survival outcomes between groups with different treatment intensities. The median age of the 51 patients was 52 (5 - 84) years, with a male-to-female ratio of 1.22:1, and the digestive system was the most common site of involvement (18/51, 35.3% ). The tumor cells exhibited a germinal center B-cell immunophenotype: 47 patients (92.2% ) showed variable c-Myc expression in tumor cells (the proportion of positive cells ranged from 20% to 85% ), 41 patients (80.4% ) were negative for Bcl-2 expression, and 47 patients (92.2% ) had a Ki-67 proliferation index ≥90%. Fluorescence in situ hybridization confirmed the absence of MYC gene rearrangement and the presence of characteristic aberrations in 11q; recurrently mutated genes included DDX3X (60.0%, 12/20), PCLO (50.0%, 10/20), TP53 (45.0%, 9/20) and GNA13 (40.0%, 8/20), et al. The complete response rate in the rituximab-containing high-intensity chemotherapy group was significantly higher than that in the non-high-intensity group [87.5% (21/24) vs 60.9% (14/23), P=0.036], with longer progression-free survival [ (62.7±3.9) months vs (41.7±6.5) months, P=0.014]. In conclusion, HGBCL-11q has distinctive clinicopathological manifestations and molecular genetic features, and rituximab-containing high-intensity chemotherapy can significantly improve the response rate and survival of patients.
Objective: To investigate the role of inorganic pyrophosphatase (PPA1) in the proliferation of abnormal naive lymphocytes in B-cell acute lymphoblastic leukemia (B-ALL) and evaluate its potential as a tumor marker. Methods: Bioinformatics analysis predicted the characteristics of the PPA1 gene. Bone marrow specimens were collected from patients with B-ALL, and abnormal immature B lymphocytes were isolated by CD19 and CD10 immunomagnetic beads, with normal cells as controls. PPA1 expression was detected with quantitative polymerase chain reaction (qPCR) and Western blot. B-ALL cell lines NALM-6 and HAL-01 were cultured in vitro, and recombinant PPA1 protein (rPPA1) or PPA1 monoclonal antibody was added to assess changes in cell proliferation, apoptosis, mitochondrial membrane potential, and cell cycle. The GV492-PPA1 overexpression plasmid was constructed and transfected into cells to assess the effect of PPA1 overexpression. shRNA was designed to construct the GV644-shPPA1 recombinant plasmid, and lentiviral transduction was performed to inhibit PPA1 expression. The impact on tumor cells was observed, and the expression levels of key proteins in the PI3K/AKT pathway and apoptosis-related factors were detected. Results: In abnormal immature B lymphocytes from patients with B-ALL, the transcription and expression levels of PPA1 were 3.75 - 14.89 times and 1.25 - 3.79 times those of normal cells, respectively. rPPA1 promoted NALM-6 and HAL-01 cell proliferation, with increased proliferation rates of 29.97% and 20.96% after treatment with 10 μg/ml for 72 h and 48.40% and 58.08% at 20 μg/ml, respectively. PPA1 monoclonal antibody (1:2 000, 1:1 000, 1:500) significantly inhibited proliferation at 19.53%, 46.90%, and 49.42% for NALM-6 cells and 22.29%, 52.41%, and 58.35% for HAL-01 cells, respectively. PPA1 monoclonal antibody (1:2 000, 1:1 000) induced apoptosis, increasing the apoptosis rate of NALM-6 cells from 10.01% to 20.17% and 29.11%, and that of HAL-01 cells from 12.65% to 18.53% and 31.80%. After treatment with the same PPA1 monoclonal antibody dilutions, the proportion of JC-1 monomers significantly increased, reaching 4.08- and 6.49-fold of the control in NALM-6 cells, and 3.99- and 6.42-fold in HAL-01 cells, indicating a decrease in mitochondrial membrane potential, whereas the cell cycle was arrested at the G(0)/G(1) phase. Overexpression of PPA1 for 48 and 72 h increased the proliferation rate of NALM-6 cells by 25.05% and 26.14%, and that of HAL-01 cells by 26.14% and 29.25%, respectively. PPA1 expression inhibition suppressed proliferation, with inhibition rates of 19.77% (48 h) and 28.99% (72 h) for NALM-6 cells, and 20.90% (72 h) for HAL-01 cells. qPCR and Western blot results revealed that PPA1 inhibition reduced the phosphorylation level of the PI3K/AKT pathway and regulated the expression of MDM2, P53, and apoptosis-related factors. Conclusion: PPA1 is closely associated with the proliferation and development of abnormal immature lymphocytes in B-ALL. PPA1 expression inhibition suppresses abnormal cell proliferation and promotes apoptosis, indicating that PPA1 has potential as a new target for tumor prevention and treatment.
Objective: To investigate the long-term survival outcomes of salvage allogeneic hematopoietic stem cell transplantation (R/R AML) . Methods: This was a retrospective real-world study. We conducted a retrospective analysis of 510 patients with R/R AML who underwent allo-HSCT at Aerospace Center Hospital between July 2012 and December 2024. All patients had active disease before transplantation, defined as a bone marrow blast proportion of at least 5%. Overall survival (OS) and disease-free survival (DFS) were assessed using the Kaplan-Meier method, whereas the cumulative incidence of relapse (CIR) and non-relapse mortality (NRM) were evaluated by competing-risk models. Univariate analysis was performed using the log-rank test, and multivariable analysis was conducted using Cox regression for survival outcomes and Fine-Gray regression for competing-risk outcomes to identify independent prognostic factors. Results: In this cohort of 510 patients, the median follow-up duration was 50 months (range, 0-151 months). The estimated 10-year overall survival (OS) and disease-free survival (DFS) rates were 35.5% (95% CI: 31.2% -40.5% ) and 33.2% (95% CI: 29.1% -38.0% ), respectively. Multivariable analysis demonstrated that European LeukemiaNet (ELN) risk stratification was a core prognostic factor. Patients in the intermediate-risk (HR=1.74, P=0.002) and adverse-risk (HR=1.97, P<0.001) categories had markedly lower OS and DFS rates. Mild-to-moderate chronic graft-versus-host disease (cGVHD) served as a protective factor for OS and DFS (both P<0.001). A diagnosis-to-transplant interval longer than 10 months (HR=1.56, P<0.001) was correlated with poor survival outcomes. A higher infused CD34(+) cell dose (≥4.3×10(6)/kg) was independently associated with superior OS (HR=0.64, P<0.001) and DFS (HR=0.62, P<0.001). In competing-risk analysis, intermediate and adverse ELN risk stratification (HR=2.73 and 2.90, respectively; both P<0.001) and elevated bone marrow blast percentage (≥50% ) (HR=1.62, P=0.037) were independently linked to increased relapse risk. Mild, moderate, and severe cGVHD, compared with no cGVHD (HR=0.38, 0.13, and 0.24; P<0.001, P<0.001, and P=0.015, respectively), and grade Ⅲ-Ⅳ acute graft-versus-host disease (aGVHD) (HR=0.54, P=0.033) were associated with a lower CIR. Regarding non-relapse mortality (NRM), grade Ⅲ-Ⅳ aGVHD (HR=2.36, P<0.001) and severe cGVHD (HR=2.74, P<0.001) were major risk factors, and advanced age (HR=1.47, P=0.033) was also associated with higher NRM. Conclusions: This study indicates that long-term disease-free survival may be attained through salvage allo-HSCT in patients with R/R AML despite active disease at transplantation. Long-term outcomes are mainly determined by disease biology and post-transplant immune effects, with ELN risk stratification and GVHD playing dominant roles, whereas pre-transplant tumor burden mainly affects relapse risk but is not an independent determinant of long-term survival. These findings suggest that greater emphasis should be placed on risk stratification and transplantation timing in clinical practice, rather than solely pursuing complete remission prior to transplantation.
This study aimed to investigate the clinical characteristics of primary pure erythroid leukemia (PEL) in children, particularly PEL with NFIA::CBFA2T3 or NFIA::RUNX1T1 fusions. We retrospectively analyzed clinical data from three children with PEL who were treated at the Capital Center for Children's Health, Capital Medical University, between September 2017 and September 2021, and reviewed the literature. All three patients had cytogenetic alterations: case 1 had t (1;16) (p32;q24), case 2 had an NFIA::CBFA2T3 fusion, and case 3 had an NFIA::RUNX1T1 fusion. All three patients responded poorly to standard intensive chemotherapy for acute myeloid leukemia (AML) and to regimens containing hypomethylating agents. Cases 1 and 3 died after continued disease progression. Case 2 underwent intensive chemotherapy followed by umbilical cord blood stem cell transplantation, relapsed 2 months after transplantation, and died soon thereafter. These findings suggest that primary PEL in children is characterized by an insidious onset, rapid progression, and poor response to commonly used AML chemotherapy regimens, and that patients may benefit from hematopoietic stem cell transplantation after achieving complete remission.
Objective: To investigate the prognostic value of immunoglobulin heavy chain variable region (IGHV) gene segment usage characteristics in high-risk follicular lymphoma (FL) patients with bone marrow infiltration. Methods: The clinical data of 33 patients of FL with bone marrow infiltration diagnosed at Jiangsu Province Hospital from August 2017 to November 2024 were collected and retrospectively analyzed. Results: Among the 33 enrolled FL patients, 32 (97.0% ) had mutated IGHV, with a median germline identity of 90.7%. The IGHV3 family was predominant (23 cases, 69.7% ), with IGHV3-48 (9 cases, 27.3% ), IGHV3-23 (4 cases, 12.1% ), and IGHV3-66 (4 cases, 12.1% ) as the most frequent segments. Consistent with prior reports, the frequency of IGHV3-48 usage in our cohort (27.3% ) was higher than that observed in other B-cell lymphomas, including chronic lymphocytic leukemia (3.8% ), splenic marginal zone lymphoma (0), and Waldenström macroglobulinemia (2.2% ) (all P value<0.05). Univariate analysis showed that FL patients using the IGHV3-48 gene exhibited higher lactate dehydrogenase levels (66.7% vs 13.6% ; OR=12.7, 95% CI: 1.6-102.3, P=0.017) and a higher proportion of FLIPI-2 score ≥3 (88.9% vs 33.3% ; OR=15.0, 95% CI: 1.6-142.2, P=0.018). Furthermore, patients using the IGHV3-48 gene segment also demonstrated a trend toward an increased risk of disease progression within 12 months (POD12) (44.4% vs 12.5% ; OR=4.8, 95% CI: 0.8-28.9, P=0.087) . Conclusion: The usage of the IGHV3-48 gene may have certain reference value for early prognostic prediction in FL patients with bone marrow infiltration.
A 60-year-old male patient with acute B-cell lymphoblastic leukemia received allogeneic hematopoietic stem cell transplantation from an unrelated donor. He was transplanted with 6.22×10(8) mononuclear cells/kg and 6.27×10(6) CD34(+) cells/kg, and engraftment was confirmed at +11 days. Eighteen months post-transplant, the patient developed persistent diarrhea and continued weight loss, which was unresponsive to antidiarrheal, immunosuppressive, and antimicrobial treatments. After abdominal CT, pancreatic magnetic resonance imaging, and fecal elastase-1 tests, he was diagnosed with pancreatic atrophy and severe pancreatic exocrine insufficiency. Symptoms significantly improved following pancreatic enzyme replacement therapy.
Objective: To investigate the safety and efficacy of oral melphalan as a conditioning regimen for patients with multiple myeloma (MM) who underwent autologous hematopoietic stem cell transplantation (auto-HSCT) . Methods: This retrospective cohort study collected clinical data of patients with MM who underwent auto-HSCT at Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from July 2022 to October 2023. Patients were divided into oral and intravenous groups according to the administration route of melphalan. Engraftment time (ET), overall responses, long-term outcomes, and melphalan-associated toxicities were assessed. The pharmacokinetics of melphalan were detected using a mass spectrometer. Results: This study included 48 patients with MM who met the inclusion and exclusion criteria. Of these patients, 12 received tablet melphalan and 36 had the injection formulation. Upon engraft infusion, time to the lowest level (TTLL) and ET of neutrophils in the oral group were significantly longer than those in the injection group[TTLL: median, 9.0 (7.0-13.0) d vs 7.0 (5.0-12.0) d, P<0.001; ET: median, 12.0 (10.0-14.0) d vs 11.0 (9.0-12.0) d, P<0.001]. Such a lag also happened to the TTLL and ET of platelets in the oral group compared with the injection group[TTLL: median 10.0 (9.0-15.0) d vs 9.0 (6.0-13.0) d, P=0.004; ET: median, 14.5 (11.0-17.0) d vs 12.0 (9.0-19.0) d, P=0.002]. The lowest level of neutrophils in the oral group was higher than that in the injection group (0.11×10(9)/L vs 0.02×10(9)/L, P<0.001), whereas the lowest level of platelets in both groups had no statistical difference (P>0.05). The median duration of neutropenia (<0.5×10(9)/L) was comparable between the two groups. Regarding non-hematological side effects, patients who took melphalan orally had a remarkably lower frequency of gastrointestinal toxicities as opposed to those given intravenously (nausea: 50.0% vs 100.0%, P<0.001; vomiting: 8.3% vs 69.5%, P=0.001; diarrhea: 50.0% vs 83.3%, P=0.030). The incidence of oral mucositis and liver or kidney impairments did not differ between the two groups. Post-auto-HSCT efficacy evaluation demonstrated no differences in the percentages of patients obtaining a very good partial response and better outcomes, as well as in the improvement rate to complete remission. With a median follow-up time of 37.9 (31.0 - 49.4) months, the median progression-free survival (PFS) of the oral and injection groups was not reached and 35.9 months (95% CI: 28.3 months-not reached), respectively. Median overall survival (OS) was not reached for either. Neither PFS nor OS reached statistical significance between the two groups. To examine the drug bioavailability, melphalan pharmacokinetics were tested in 6 patients, comprising 3 from the oral group and 3 from the injection group. The result demonstrated that both formulations reached their peak levels in 30 min. Although the oral melphalan exposure on average was 82.2% of the injection dosage form, there was no significant difference in bioavailability. Conclusions: Oral melphalan, as a conditioning regimen for auto-HSCT in paients with MM, demonstrated favorable bioavailability, a low incidence of adverse reactions, and good clinical efficacy.
Burkitt lymphoma accounts for less than 5% of adult lymphomas and is clinically highly aggressive. Despite improved prognosis with dose-intensive therapy, Burkitt lymphoma remains a specific area of clinical and biological research, and there are currently no consensus recommendations regarding the diagnosis, treatment, and prognostic factors in adult patients. In order to strengthen the understanding of Burkitt lymphoma in our country, improve the diagnosis and treatment level, and help promote multi-center clinical research, the Lymphoid Disease Group, Chinese Society of Hematology, Chinese Medical Association and Lymphoma Expert Committee of Chinese Society of Clinical Oncology (CSCO) organized relevant experts to discuss and form this consensus on the basis of the relevant consensus on the diagnosis and treatment of Burkitt lymphoma, combined with the latest research progress both domestically and internationally.
Large granular lymphocytic leukemia (LGLL) is a disease primarily occurring in elderly populations, characterized by the clonal proliferation of cytotoxic lymphocytes. In recent years, significant progress has been made in both basic and clinical research on LGLL, particularly in the field of novel drug therapies. To improve the diagnostic, differential diagnostic, and standardized treatment levels of LGLL for medical professionals in China, Hematological Oncology Committee of China Anti-Cancer Association, Lymphoid Disease Group, Red Blood Cell Disease Group, Chinese Society of Hematology, Chinese Medical Association, Chinese Workshop of Indolent Lymphomas have jointly formulated this version of the expert consensus.
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome characterized by uncontrolled activation of lymphocytes and macrophages. Owing to its marked etiological heterogeneity, HLH is broadly classified into primary and secondary forms. Janus kinase (JAK) inhibitors, represented by ruxolitinib, exert therapeutic effects by blocking the JAK-STAT signaling pathway and suppressing the secretion of various cytokines, including interferon-γ. Accumulating evidence suggests that JAK inhibitors demonstrate unique therapeutic potential across diverse etiological backgrounds of HLH. This review summarizes the mechanisms and clinical research progress of JAK inhibitors in the treatment of HLH.
Objective: To evaluate the feasibility and limitations of using a large language model to assist in the interpretation of bibliometric findings. Methods: This study retrieved 1599 English-language articles on hemophilia gene therapy published between 1970 and 2024 from the Web of Science Core Collection, comprising 1019 articles from the United States, 174 from China, and 172 from the United Kingdom. VOSviewer was used for keyword co-occurrence and clustering analyses of the global and country-specific datasets, whereas CiteSpace was used for keyword co-occurrence, clustering, and burst-detection analyses of the global dataset. Structured data exported from the two tools were interpreted with DeepSeek-R1-0528 to summarize research hotspots and their temporal evolution. Two domain experts independently interpreted the global data and reviewed the country-specific interpretations generated using DeepSeek. Additional literature searches on CRISPR/Cas9, stem-cell-based approaches, and in utero gene therapy were conducted to cross-validate the national research characteristics inferred by the model. Results: DeepSeek summarized global hemophilia gene therapy research into four major themes: the design and in vivo expression regulation of gene therapy vectors; Adeno-associated virus vector delivery strategies and breakthroughs in immunogenicity; the clinical translation and real-world application of gene therapy; the mechanisms of immune tolerance induction and inhibitor formation. Based on seven major CiteSpace clusters and the temporal and burst information of the keywords, DeepSeek further outlined four stages of development: early exploration of vectors and animal models, optimization of delivery and therapeutic strategies, clinical validation, and increasing attention to clinical application and patient benefits. The core research themes and overall developmental trajectory for the global dataset identified using DeepSeek were broadly consistent with expert interpretations, and the model rapidly generated well-structured summaries. However, expert calibration remained necessary for professional terminology, stage delineation, and historical milestone recognition. In country-specific datasets, DeepSeek demonstrated risks of conceptual conflation, overgeneralization of emerging research directions, and inappropriate cross-country comparisons according to within-country keyword frequencies or cluster strengths. Additional searches revealed that the relative prominence or absence of a keyword within a national dataset could not be directly interpreted as international leadership or a lack of research activity. Conclusions: Large language models can assist in interpreting global bibliometric findings and improve the efficiency of identifying research hotspots and outlining developmental trajectories; however, they cannot replace domain experts. Interpretations of emerging research directions and cross-country differences require expert review and calibration using globally comparable data obtained under a unified search strategy.
