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We retrospectively analyzed the outcomes of 136 consecutive patients who received allogeneic hematopoietic stem cell transplantation (allo-HSCT) at our center. Among them, 76 cases used hypomethylating agents (decitabine, n = 40; azacitidine, n = 36) as post-transplant maintenance therapy, whereas 60 contemporaneous patients did not adopt maintenance therapy. The 3-year incidences of relapse in two groups were 16.6% and 39.2% (p =.001). The 3-year OS and DFS in maintenance group were 84.0% and 78.6%, which were remarkably improved than in control group (60.0% and 58.0%) (p =.004, p =.011). Moreover, the 3-year relapse rates for patients receiving decitabine and azacitidine therapy were 8.5% and 25.0%, respectively (p =.019). Patients utilizing decitabine had more common possibility of grade 3–4 neutropenia than azacitidine (20.0% vs. 2.8%, p =.031). These results indicate that maintenance therapies using hypomethylating agents could reduce the risk of post-transplant recurrence, resulting into remarkable superior survival. Decitabine might lower relapse after allo-HSCT with somewhat more severe myelosuppression when being compared to azacitidine. [ABSTRACT FROM AUTHOR]

Objective To investigate the efficacy and influencing factors of allo-HSCT in the treatment of MDS patients with ASXL1+. Methods The second-generation sequencing technique was used to detect 22 gene mutations in 247 newly diagnosed MDS patients in our hospital. The patients were divided into chemotherapy group and transplant group according to treatment style. The differences of OS and PFS between the two groups were compared, and the influencing factors of prognosis of transplant patients were analyzed. Results ASXL1+ was detected in 75 patients (30.36%), with a median mutation ratio of 42.93 (18.10,58.39)%, 10 received supportive treatment, 43 received demethylation therapy or demethylation combined with pre-excitation therapy, and 22 received allo-HSCT. 2-year PFS rate and OS rate of transplantation group were significantly higher than that of chemotherapy group (P < 0.05). The 2-year OS rate in the low ASXL1 mutation load group (VAF ≤ 42.93%) was significantly higher than that in the high ASXL1 mutation load group (VAF > 42.93%) (P < 0.05). In the context of allo-HSCT in patients with ASXL1+, 2-year OS and PFS rates were significantly reduced in patients with RUNX1+ or ASXL1+ (P < 0.05); Multivariate analysis showed that high mutation load of ASXL1 or U2AF1+ were independent risk factors for OS in transplant patient (P < 0.05). U2AF1+ were the risk factors for PFS (P < 0.05). Conclusion allo-HSCT significantly improved the prognosis of patients with ASXL1+ MDS. High ASXL1 mutation load or U2AF1+ were independent risk factors affecting the outcome of allo-HSCT. [ABSTRACT FROM AUTHOR]

A new regulatory subpopulation of innate lymphoid cells (ILCs), regulatory innate lymphoid cells (ILCregs), has been identified with both innate lymphoid cells and regulatory cells characteristics. The purpose of this study is to explore ILCregs and its associated miRNAs in patients with aplastic anemia (AA) by evaluating ILCregs frequency, associated miRNA quantification, and their significance. Using 4 color combinations of surface and intracellular antibody staining, the CD45+Lin−CD127+IL-10+ ILCregs from 30 healthy donors and 30 patients newly diagnosed with AA were measured by flow cytometry. Bone marrow cells were studied by next-generation sequence miRNAs quantification. Our results showed that the frequency of ILCregs in bone marrow cells from healthy donors (HD) and AA patients were 0.703 ± 0.941 and 0.171 ± 0.233%, respectively. The frequencies of ILCregs in AA patients were significantly lower than that in HD (p <0.05). miRNA detection results showed different expression patterns in the AA patient group comparing with HD. Comparing with HD, there were 52 miRNAs up-regulated and 130 miRNAs down-regulated from AA patients. Analysis of miRNAs from ILCregs associated genes demonstrated different miRNAs expression patterns between HD and AA patient. The present study demonstrated the deficiency of ILCregs and differential expression pattern of ILCregs gene-related miRNA in patients with AA. Further studies need to be done to explore the clinical significance of ILCregs and related miRNAs in patients with AA with large samples size and clinical follow-up. [ABSTRACT FROM AUTHOR]

Background: Biphenotypic acute leukemia (BAL), or mixed-phenotype acute leukemia (MPAL) represents a rare subgroup of acute leukemia which co-expresses markers for either more than one lineage in a homogenous blast population or the coexistence of two blast populations of different lineages. Proper diagnosis and classification of BAL are extremely important for patients' outcome since BAL usually has a poor prognosis. Purpose: The objective of this study was to identify the incidence of biphenotypic acute leukemia, their clinical characteristics and outcome of BAL patients with the chemotherapy treatment and Hematopoietic Stem Cell Transplantation (HSCT) after initial complete remission. Patients and methods: Ten cases of biphenotypic acute leukemia were analyzed for their clinical characteristics, immunological phenotypes, chemotherapy methods for induction initial complete remission and outcome data, including induction chemotherapy, complete remission (CR) and the overall survival time, relapse and death. This study was an observational, retrospective, and descriptive study of the clinical aspects of BAL. Cytogenetics and fusion genes analysis were also done with bone marrow samples using G-banding analysis and karyotyped according to the International System for Human Cytogenetic Nomenclature. The fusion genes' mutational status was determined by real-time PCR (RT-PCR). Gene mutation analyses were conducted with next-generation sequencing method. Results: Among 10 BAL patients, 4 cases carried B/Myeloid phenotype, 4 cases carried T/Myeloid phenotype and 2 cases carried T/B phenotype. Cytogenetic analysis showed that 3 of the 10 cases had clonal abnormalities. Of the four cases of fusion gene aberration, two patients had RUNX1 gene mutation, one patient had BCR/ABL fusion gene mutation, and one patient had JAK1, JAK3, FBXW7 mutation. Overall, 5 of 8 (62.5%) BAL patients with chemotherapy achieved complete remission (CR) after their initial induction therapy. In the AML-directed therapy group, 1 of 2 (50%) patients achieved CR. Meanwhile, 4 of 6 (66.7%) patients achieved CR after ALL-directed induction chemotherapy. Two patients received Hematopoietic Stem Cell Transplantation (HSCT) after initial CRs, one patient died two months after transplantation due to pulmonary infection, and another patient is still alive. With an average of 14.3 (4.0–42.0) months' follow-ups, the median survival time was 7 months. Although patients achieved CR after initial chemotherapy, the relapse rate was very high and the CR rate after relapse was very low. Conclusion: Our results confirmed that BAL is a rare malignancy with a very poor prognosis. Patients with ALL-directed chemotherapy achieved a better CR rate compared to those with AML-directed chemotherapy. Patients should receive HSCT after initial CR whenever it is possible. [ABSTRACT FROM AUTHOR]