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1.
Chinese Journal of Hematology ; (12): 241-246, 2022.
Article in Chinese | WPRIM | ID: wpr-929564

ABSTRACT

Objective: This study aimed to investigate the clinical and prognostic significance of TET2 single nucleotide polymorphism I1762V in patients with acute myeloid leukemia (AML) . Methods: The high-throughput sequencing method was used to sequence 58 hematological tumor-related genes in bone marrow samples from 413 patients with AML. TET2 I1762V and other somatic mutations were annotated and compared with patients' clinical information and prognosis. Results: I1762V was found in 154 patients with AML, which was significantly different from the general population in NyuWa Chinese Population Variant Database (χ(2)=72.4, P<0.001) . I1762V was not related to sex, age, and karyotype of patients with AML (P>0.05) . Patients with I1762V had a significantly higher proportion of NPM1 and KIT gene mutations than others (P<0.001) . NPM1 and KIT mutations were mutually exclusive. The survival analysis results revealed that the overall survival (OS) and progression-free survival (PFS) of patients with AML with I1762V were significantly greater than those of wild-type patients (HR=0.57, P=0.030; HR=0.55, P=0.020) , whereas the OS and PFS in patients with AML with DNMT3A mutation (with or without I1762V mutation) were lower than those of wild-type patients (HR=1.79, P=0.030; HR=1.74, P=0.040) . Conclusion: TET2 SNP I1762V has been linked to AML. I1762V is a prognostic factor of patients with AML, which can be used to guide the treatment and evaluate the prognosis of AML.


Subject(s)
Humans , DNA-Binding Proteins/genetics , Dioxygenases/genetics , Leukemia, Myeloid, Acute/genetics , Mutation , Nuclear Proteins/genetics , Polymorphism, Single Nucleotide , Prognosis
2.
Journal of Experimental Hematology ; (6): 913-918, 2022.
Article in Chinese | WPRIM | ID: wpr-939709

ABSTRACT

AbstractObjective: To investigate the sample selection, result correction and clinical application value of multi nucleotide polymorphism chimerism detection method based on Next-generation sequencing.@*METHODS@#The chimerism samples from November 2018 to June 2020 were collected, and Pearson correlation coefficient (r) was used to analyze the consistency of bone marrow and peripheral blood results detected by MNPseq; according to the different information integrity before transplantation, the calibration model was constructed to analyze the correction value of the micro chimerism results in each model; the clinical results were retrospectively analyzed to verify the reliability and practicability of chimerism results correction and the clinical value of MNPseq method.@*RESULTS@#The results of bone marrow and peripheral blood chimerism detected by MNPseq method were consistent with each other and showed significant correlation (r=0.985, P<0.01). The three groups of calibration models were constructed according to different pre-transplant information. For the no donor and pre-transplant patients information group, the correction value was 1%; while for the group with pre-transplant patients and without donor information, 0.61% of the chimerism rate and 13 heterotopic points were used as the correction value; 0.26% of the chimerism rate and 21.57% of the heterotopic points were used as the correction value for the group with pre-transplantation patients and donor information. After correction, the number of the patients with incomplete chimerism decreased from 276 (74.19%) to 141 (37.91%) (P<0.01). Among 18 (18/141, 12.77%) patients with incomplete chimerism, the results of MNPseq in the patients were 25-39 days earlier than those in STR and flow MRD, and the result showed statistical significance.@*CONCLUSION@#MNPseq method can be used to monitor chimerism with peripheral blood instead of bone marrow samples, and the results can be corrected to detect the changes of graft status in vivo in a more timely manner.


Subject(s)
Humans , Chimerism , Hematopoietic Stem Cell Transplantation , Nucleotides , Reproducibility of Results , Retrospective Studies , Transplantation Chimera/genetics , Transplantation, Homologous
3.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 171-183, 2021.
Article in Chinese | WPRIM | ID: wpr-906253

ABSTRACT

Objective:This research aims to construct the "disease-gene-target-components-drug" network with the methods of network pharmacology and bioinformatics, and to explore the key genes and signaling pathways of Xiao Qinglongtang in the treatment of bronchial asthma. Method:First,we selected the differentially expressed genes between patients with asthma and healthy people with use of the gene expressing Omnibus(GEO) database,and searched the active ingredients from Xiao Qinglongtang with use of TCMSP database,and then screened disease genes and herb ingredient targets as intersecting genes to construct the protein-protein interactions (PPI) network by using R language and Cytoscape 3.7.2 software. At the same time Gene Ontology (GO) analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis were carried out. Result:Series GSE43696 in GEO database were successfully filtered,which contained 108 pieces of chip data. A total of 820 differentially expressed genes were screened from the chip data. Then we filtered 169 active ingredients and 246 targets of Xiao Qinglongtang from database. Through the above steps,we obtained 25 intersecting genes, and PPI network results showed that 91 potential targets may be involved in the mechanism of Xiao Qinglongtang. A total of 180 gene functions such as response to oxidative stress,inflammatory response,extracellular matrix organization and positive regulation of vascular endothelial growth factor production were showed in GO enrichment analysis results. 39 signaling pathways were showns in the results of KEGG pathway enrichment analysis,such as T helper cell 17(Th17) cell differentiation,interleukin 17(IL-17)signaling pathway,tumor necrosis factor(TNF) signaling pathway,and hypoxia inducible factor-1(HIF-1) signaling pathway. Conclusion:Xiao Qinglongtang fully embodies the characteristics of multi-components,multi-targets and multi-pathways in the intervention of bronchial asthma. The results of the study could provide an important basis for mechanism research of Xiao Qinglongtang in treating asthma.

4.
Journal of Experimental Hematology ; (6): 601-606, 2013.
Article in Chinese | WPRIM | ID: wpr-332728

ABSTRACT

This study was aimed to evaluate the frequencies and prognostic significance of the nucleophosmin 1 (NPM1) mutation, the fms-like tyrosine kinase 3 (FLT3) mutation and c-KIT mutation in acute myeloid leukemia (AML) and to explore their relevance to clinical characteristics, cytogenetics and survival. Genomic DNA from 78 newly diagnosed AML from August 2010 to October 2012 was screened by PCR and sequencing or capillary electrophoresis (CE) for NPM1, FLT3 and c-KIT mutations. The results showed that the incidence of NPM1 mutation was 14.1% in AML patients and 26.7% in normal karyotype AML patients. NPM1 mutant cases were significantly associated with old age (P < 0.05), high peripheral white cell count and platelet counts (P < 0.05) and low expression of CD34 (P < 0.05), but no statistic difference was found in sex, percentage of bone marrow blasts, Hb, expression of CD117 and HLA-DR, complete remission rate, overall survival and relapse rate (P > 0.05). The prevalences of FLT3-ITD and FLT3-TKD mutations were 11.5% (9/78) and 3.8% (3/78) respectively, and no one patient has both of the two mutations. Patients with FLT3-ITD mutation had higher white blood cell counts and percentage of in bone marrow blasts (P < 0.05), and lower overall survival (P < 0.05), more relative to normal karyotype (P < 0.05), while no statistic difference was found in sex, age, platelet count, Hb level, complete remission rate and relapse rate (P > 0.05). No statistic analysis was performed due to the cases of less FLT3-TKD mutation. C-KIT mutation accounts for 7.7% (6/78). Patients with C-KIT mutation had a higher percentage in abnormal karyotype (P < 0.05), and higher relapse rate (P < 0.05), and lower overall survival, whereas no statistic difference was found in sex, age, percentage of bone marrow blasts, peripheral blood cell count, complete remission rate (P > 0.05). It is concluded that the detection of NPM1, FLT3 and C-KIT mutations may contribute to guiding treatment and evaluating prognosis of patients with AML.


Subject(s)
Adolescent , Adult , Aged , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Young Adult , Karyotyping , Leukemia, Myeloid, Acute , Diagnosis , Genetics , Mutation , Nuclear Proteins , Genetics , Prognosis , Proto-Oncogene Proteins c-kit , Genetics , fms-Like Tyrosine Kinase 3 , Genetics
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