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

Multiple myeloma (MM) is a highly het1076erogeneous hematologic malignancy driven by complex genetic and molecular abnormalities. Driver gene mutations, particularly in the RAS/MAPK, DNA damage repair, and NF-κB pathways, are central to MM pathogenesis, progression, and prognosis. Existing risk stratification systems based on cytogenetics and clinical features remain limited in predictive accuracy. Emerging genomic prognostic models and targeted therapies offer new precision treatment strategies. Integrating gene mutation analysis into prognostic frameworks may improve outcome prediction and guide therapy. This review summarizes current advances on gene mutations in MM, their prognostic implications, and potential therapeutic targets.

Acquired clotting factor deficiency encompasses bleeding disorders with diverse causes, including clotting factor inhibitors, liver disease, and disseminated intravascular coagulation. Among these, acquired clotting factor inhibitors are particularly rare and diagnostically challenging. Clinical management focuses on early recognition of bleeding, individualized therapy, and dynamic monitoring. In China, standardized protocols exist for acquired hemophilia A, while reports on other rare inhibitors are limited. Treatment strategies target both hemostasis and inhibitor eradication, with novel therapies for refractory cases. This article integrates clinical cases to provide practical guidance for standardized management.

Here we report the case of a CBF-AML patient with KIT p.D816V mutation who failed avapritinib induction therapy and subsequently underwent bridging allogeneic hematopoietic stem cell transplantation (allo-HSCT), along with a literature review. The patient was a 64-year-old male who did not achieve remission after induction therapy with the DA regimen (Daunorubicin + Cytarabine). After reinduction with avapritinib combined with the DCHG regimen (Decitabine + Homoharringtonine + Cytarabine + Granulocyte colony-stimulating factor), he attained complete remission (CR) and flow cytometry minimal residual disease (MRD) negativity, but the RUNX1::RUNX1T1 fusion gene remained positive. During consolidation therapy, flow MRD reappeared, and the fusion gene level progressively increased. The patient then underwent a 9/10 HLA-matched unrelated donor allo-HSCT. Post-transplant, the fusion gene persisted, prompting treatment with the "ITI" regimen (with dose adjustments, including sequential addition of interferon and interleukin-2, pomalidomide incorporation, and standard vs. escalated dosing of "ITI" regimen). Currently, MRD negativity has been maintained for over 5 months, with good treatment tolerance. This finding suggest that the "ITI" regimen may serve as a novel and well-tolerated therapeutic option for CBF-AML patients with persistent RUNX1::RUNX1T1 fusion gene positivity after allo-HSCT and KIT p.D816V mutation, particularly in cases of avapritinib treatment failure.

This article reports the diagnosis and treatment of a patient with diffuse large B-cell lymphoma (DLBCL) initially manifested as acquired von Willebrand syndrome (AvWS), along with a literature review. The patient, a 22-year-old male, was diagnosed with hereditary von Willebrand disease at the initial stage due to repeated mucosal bleeding, and was later diagnosed with DLBCL (non germinal center type, Ann Arbor stage Ⅳ) due to chest wall mass. Through chemotherapy combined with autologous hematopoietic stem cell transplantation and zebutinib maintenance therapy, the patient achieved sustained complete remission, and the coagulation function returned to normal. This case provides an important reference for the diagnosis and treatment of lymphoma associated AvWS, and highlights the importance of early recognition of basic diseases.

Intravascular large B cell lymphoma (IVLBCL) is a rare, aggressive subtype of diffuse large B cell lymphoma, with nasal turbinate involvement being uncommon. We report a 51-year-old woman with a 1-month history of fever of unknown origin. Laboratory findings showed cytopenia, hypertriglyceridemia, elevated ferritin, increased soluble CD25, and bone marrow hemophagocytosis. No infectious cause was identified. PET-CT revealed abnormal (18)F-fluorodeoxyglucose (FDG) uptake in the nasal turbinates. Turbinate biopsy revealed tumor cells localized predominantly within vascular lumens, positive for CD20, BCL6, PAX5, and MUM1, with a Ki-67 index >60%, confirming a diagnosis of IVLBCL with hemophagocytic lymphohistiocytosis (HLH). The patient received one cycle of the DEP regimen (liposomal doxorubicin, etoposide, and methylprednisolone) for HLH, followed by five cycles of R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone) and consolidation with auto-HSCT, achieving sustained complete remission. IVLBCL outcomes are heterogeneous; early diagnosis and prompt treatment improve survival, and R-CHOP plus auto-HSCT may be an effective strategy.

Objective: To assess the safety and efficacy of thiotepa, busulfan, and etoposide (TBE) conditioning followed by autologous hematopoietic stem-cell transplantation (TBE auto-HSCT) in primary central nervous system lymphoma (PCNSL) patients. Methods: Clinical data from 27 PCNSL patients who received TBE auto-HSCT at the Fifth Medical Center of PLA General Hospital between November 1, 2021, and April 30, 2024, were retrospectively analyzed. Results: Twenty-seven patients [16 males, 11 females; median age 57 (23-72) years] were included, with 12 (44.4%, 12/27) over 60. Twenty-five had newly diagnosed PCNSL and 2 were relapsed. Median time from diagnosis to transplantation was 6.9 (5.0-10.0) months. TBE auto-HSCT increased complete remission (CR) rate from 63.0 to 96.3% (P= 0.005), and 9 of 10 patients in partial remission achieving CR post-transplant. Median follow-up was 24.5 months (range 2.0-36.0). Two-year progress-free and OS rates were (87.2±6.9) % and (88.6±6.2) %, respectively. Common grade 3 nonhematologic adverse events were diarrhea (18.5%, 5/27) and bacterial infections (14.8%, 4/27). One patient (64 years old) died from carbapenem-resistant Enterobacteriaceae infection within 2 months post-transplant, yielding a 100-day treatment-related mortality of 3.7% (1/27) . Conclusion: TBE-conditioned high-dose chemotherapy with auto-HSCT is effective, safe, and well-tolerated in PCNSL patients, including the elderly.

Objective: To evaluate the impact of donor characteristics on the prognosis of myelodysplastic syndrome (MDS) patients undergoing haplo-identical transplantation (HIDT) . Methods: A retrospective analysis of 203 MDS patients who received HIDT was conducted to evaluate how donor factors influenced transplant outcomes. Results: In MDS patients undergoing haploidentical transplantation, donors over 50 years were associated with higher EBV reactivation (2-year cumulative incidence 42.9% vs 22.0% for <50 years old; P=0.010). Female donors were linked to increased severe chronic GVHD compared with male donors (2-year incidence 11.9% vs 4.0% ; P=0.017). Additionally, 2-year overall survival (OS) was slightly lower with female donors than male donors (56.6% vs 69.7% ), but the difference was not statistically significant (P=0.073). Donor-recipient blood type did not affect post-transplant OS or cumulative relapse rates. Donor-recipient kinship analysis revealed that child donors, compared to haploidentical sibling or parent donors, had lower rates of grade Ⅱ-Ⅳ acute GVHD (27.2% vs 45.7% vs 53.5%, P=0.007) and 2-year EBV reactivation (13.9% vs 29.3% vs 38.9%, P=0.001). For donors under 20 years, donor gender did not significantly affect 2-year OS (P=0.913), relapse-free survival (P=0.716), or 100-day incidence of grade Ⅱ-Ⅳ acute GVHD (P=0.359) . Conclusion: For MDS patients undergoing HIDT, donors over 50 should be avoided. Male and child donors are preferred, while donor gender does not significantly affect outcomes if the donor is under 20 years old.

In this paper, two cases of primary familial and congenital polycythemia (PFCP) were reported, and the literature was reviewed. PFCP is a rare autosomal dominant inherited disease caused by a gain-of-function mutation in the EPOR gene, resulting in a loss of negative regulation of erythrocyte proliferation. The two patients were young women with simple polycythemia and clear family history, and identified to carry the truncated mutation c.1316G>A (p.W439*) of EPOR gene. At present, there is no unified treatment plan for PFCP. Currently, there is no standardized treatment for PFCP; management primarily aligns with guidelines for polycythemia vera, focusing on preventing thrombotic complications. This article discusses the clinical features of PFCP, EPOR gene mutations, and their pathogenic mechanisms, while providing diagnostic and therapeutic recommendations based on existing literature.

Objective: To evaluate the efficacy of purified donor CD34 positive hematopoietic stem cell (CD34(+) cell) infusion in patients with poor graft function (PGF) after allogeneic hematopoietic stem cell transplantation (allo-HSCT) . Methods: The clinical data of 25 patients with PGF who underwent donor CD34(+) cell sorting and infusion at the Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences between September 2019 and March 2023, were retrospectively analyzed. The cohort included 19 haploidentical and 6 HLA-matched cases. CD34(+) cells were purified using immunomagnetic beads for therapeutic infusion. The purification efficiency was evaluated based on the purity and recovery rate of CD34(+) cells. Clinical outcomes were assessed by hematopoietic recovery, overall survival (OS) rate, and the incidence of graft-versus-host disease (GVHD) . Results: The median total number of CD34(+) cells was 2.64 (0.82-6.53) × 10(8) before purification and 2.22 (0.48-5.68) ×10(8) after purification, with a median recovery rate of 78.37% (58.48%-115.72%) . After infusion of purified CD34(+) cells, 8 of 10 patients (80.0%) with poor neutrophil engraftment achieved recovery (absolute neutrophil count ≥ 0.5×10(9)/L) , with a median time to recovery of 21 (10-40) days. And 15 of 21 patients (71.4%) with poor platelet engraftment achieved recovery (platelet count ≥ 20×10(9)/L) , with a median time to recovery of 15 (13-38) days. Only 3 patients (12.0%) developed GVHD after the infusion of purified CD34(+) cells, including 2 cases of grade I acute GVHD and 1 case of limited chronic GVHD. With a median follow-up of 14.47 (0.23-41.63) months, the overall OS rate after CD34(+) cell infusion was (65.63± 8.28) %. Seventeen patients survived, with a median survival time of 19.07 (0.23-41.63) months. Conclusion: Purification of CD34(+) cells using immunomagnetic beads is effective, and the infusion of these purified donor CD34(+) cells can safely and effectively improve PGF after allo-HSCT.