Clinical Characteristics of Acute Myeloid Leukemia Patients with RUNX1 Gene Mutation / 中国实验血液学杂志

OBJECTIVE@#To investigate the incidence of Runt-related transcription factor 1 (RUNX1) gene and its associated gene mutations in patients with acute myeloid leukemia (AML), and analyze its clinical characteristics and prognosis.@*METHODS@#The genomic DNA-PCR method was used to detect the exon of RUNX1 gene, and the gene mutations were analyzed by genetic sequencing. NPM1, DNMT3A, FLT3-ITD, IDH1/2, K/N-RAS, CEPBA, TET2, and WT1 co-mutations were also detected. Patients were followed up to determine efficacy and prognosis.@*RESULTS@#Among 171 patients, the RUNX1 gene mutation was detected in 17 cases, and the mutation rate was 9.9%. The type of RUNX1 gene mutation was 9 missense mutations, 4 frameshift mutations, and 4 nonsense mutations. The peripheral blood leukocyte count of the patients in mutation group was 3 (1-101) ×10@*CONCLUSION@#AML patients with RUNX1 gene mutation shows unique clinical and biological characteristics, RUNX1 mutation can be regarded as a molecular marker of poor prognosis in AML patients.

Correlation of the Expression Alteration of Tim-3 with the T Cell and B Cell Dysfunction in Peripheral Blood of Multiple Myeloma Patients / 中国实验血液学杂志

OBJECTIVE@#To study the correlation of the expression alteration of Tim-3 with the T cell and B cell dysfunction in peripheral blood of multiple myeloma (MM) patients.@*METHODS@#30 patients diagnosed as MM from October 2016 to October 2018 were selected and enrolled in MM group, and 30 healthy persons whose sex and age was matched with the MM patients were selected and enrolled in healthy control group (HC). The blood samples from MM patients and HC were collected, and the peripheral blood mononuclear cells (PBMNC) were separated by density gradient centrifugation, then the serum was kept for further study. The ratios of CD3CD4Tim-3T cells, CD3CD8Tim-3T cells and the CD19+CD20-CD38+B cells were analysed by flow cytometry (FCM)，and the concentration of T cell-related cytokines IFN-γ, TNF-αand B cell-related antibodies IgA, IgM and IgG were measured by ELISA. At the same time, the differences of the ratios of CCD3CD4Tim-3T, CD3CD8Tim-3T cells and plasmablast and the concentration of IFN-γ, TNF-α, IgA, IgM and IgG between the MM patient and HC were estimated, and the correlation of the ratio of CD3CD4Tim-3T, CD3CD8Tim-3T cells with the ratio of plasmablast and the concentration of IFN-γ, TNF-α, IgA, IgM and IgG in MM patients were analyzed.@*RESULTS@#The ratio of CD3CD4Tim-3T, CD3CD8Tim-3T cells increased in MM patients, while the ratio of CD19+CD20- CD38+B cells and the concentration of IFN-γ, TNF-α, IgA, IgM and IgG decreased in MM patients. And there was a negative correlation of the ratio of CD3CD4Tim-3T cells with CD19+CD20-CD38+B cells and the concentration of IFN-γ, IgA, IgM and IgG in MM patients, while the ratio of CD3CD8Tim-3T cells just negatively correlated with the concentration of TNF-α.@*CONCLUSION@#Expression of Tim-3 on CD4 and CD8 cells elevates in the peripheral blood of MM patients, which also correlates with the function suppression of T and B cells.

Influence of As(2)O(3) on proteasome beta(1)-subunit in NB4 cells / 中国实验血液学杂志

This study was aimed to explore the correlation between effects of arsenic trioxide on NB4 cell differentiation and the change of beta(1)-subunit of 26S proteasome. NB4 cell in 0.5 micromol/L As(2)O(3) was incubated for 24 hours and 48 hours, then total protein was extracted, expressions of subunit beta(1) and PML-RARalpha fusion protein were determined by Western blot. The results indicated that the expression of 26S proteasome beta(1)-subunit increased after incubation with As(2)O(3) for 24 hours, but after culture with As(2)O(3) for 48 hours, the expression of beta-subunit decreased to the baseline. Meanwhile, the expression of PML-RARalpha fusion protein obviously decreased after 24 hours, and kept low level at 48 hours. It is concluded that the expression of 26S proteasome beta(1)-subunit increases after exposure to As(2)O(3). Increment of 26S proteasome beta(1)-subunit may be associated with the degradation of PML-RARalpha fusion protein and plays roles in the differentiation and apoptosis of NB4 cells.