[Clinical Characteristics and Prognostic Significance of Gene Mutations in Myelodysplastic Syndromes].

Objective: To explore the mutation of gene in patients with myelodysplastic syndromes (MDS), and explore their correlation with mutations of other genes, clinical features and prognostic of patients.

Methods: High throughput DNA sequencing was used to identify mutations in common blood tumor genes. The mutational characteristics of the gene and the correlation between gene mutations and patients clinical characteristics and prognosis were retrospectively analyzed.

[Characteristic Analysis of Adult Acute Myeloid Leukemia Patients with Gene Mutation].

Objective: To investigate the incidence of gene mutation and its associated gene mutations in adult patients with acute myeloid leukemia (AML), and analyze its clinical characteristics.

Methods: Second-generation sequencing and Sanger sequencing were used to detect 51 gene mutations, and multiplex-PCR was used to detect 41 fusion genes from 451 newly diagnosed adult AML patients admitted to Affiliated Hospital of Jiangnan University, Changzhou Second People's Hospital, Wuxi People's Hospital and Wuxi Second People's Hospital from January 2017 to July 2022.

Results: Among 451 primary adult AML patients, the gene mutation was detected in 34 cases, and the mutation rate was 7.

[Molecular Genetic Characteristics of Acute Myeloid Leukemia Patients with Positive].

Objective: To explore mutational characteristics of acute myeloid leukemia (AML) patients with and analyze the correlation between the mutations and partial clinical characteristics.

Methods: A total of 62 AML patients with were included and 51 candidate genes were screened for their mutations using targeted next-generation sequencing (NGS). The exon 12 of , , and domains of were detected by genomic DNA-PCR combined with sanger sequencing.

Molecular genetic and clinical characterization of acute myeloid leukemia with trisomy 8 as the sole chromosome abnormality.

Introduction: The aim of the study was to determine molecular genetic and clinical characterization of acute myeloid leukemia (AML) with trisomy 8 as the sole chromosome abnormality, a recurrent but rare chromosomal abnormality in AML.

Methods: Interphase fluorescence in situ hybridization, reverse transcriptase-quantitative polymerase chain reaction for gene rearrangement and next-generation sequencing (NGS) were performed on sole trisomy 8 AML patients.

Results: A total of 35 AML patients with trisomy 8 as the sole chromosome abnormality were screened.

[Analysis of Coexisting Gene with NRAS in Acute Myeloid Leukemia].

Objective: To investigate the coexisting mutations and clinical significance of Homo sapiens neuroblastoma RAS viral oncogene homolog (NRAS) gene in acute myeloid leukemia (AML) patients.

Methods: High-throughput DNA sequencing and Sanger sequencing were used to detect 51 gene mutations. The occurrence, clinical characteristics and treatment efficacy of coexisting genes with NRAS were investigated.

Companion gene mutations and their clinical significance in AML with double or single mutant CEBPA.

Introduction: We report the co-mutations in AML with CEBPA or CEBPA and their clinical features in a large cohort (n = 302) of CEBPA AML patients.

Materials And Methods: We retrospectively sequenced 112 genes in 302 patients with CEBPA using NGS, and studied the spectrum and clinical impact of co-mutations in CEBPA and CEBPA.

Results: ① The average number of mutations in CEBPA and CEBPA AML was comparable, but not significant (P = 0.

[Analysis of the Differential Expression of circRNA in Acute Myeloid Leukemia by GEO Database].

Objective: To investigate the difference expression of circular RNA (circRNA) in acute myeloid leukemia (AML) by using bioinformatics method.

Methods: The microarray chip data of AML was searched and downloaded from the Gene Expression Omnibus (GEO) of the National Center for Bioinformatics (NCBI). The differences between AML samples and control samples were analyzed by R software.

[Analysis of RUNX1 Gene Mutation in Patients with Myelodysplastic Syndrome].

Objective: To investigate the mutation of RUNX1 gene in patients with myelodysplastic syndrome (MDS) and its correlation with other gene mutations and some clinical parameters.

Methods: The mutations of RUNX1, DNMT3A, TET2, IDH1/2, NPM1, FLT3-ITD and C-KIT in 170 patients with MDS were detected by direct and indirect sequencing of genomic DNA-PCR amplification products.

Results: The RUNX1 mutation was found in 23 patients (13.

[Coexisting Mutations in IDH1/2-Mutated Acute Myeloid Leukemia].

Objective: To explore the coexisting mutations in IDH-mutated acute myeloid leukemia(AML) and its relation with partial clinical parametrs.

Methods: The exon 4 mutation of IDH1/2 gene was screened by using genome DNA-PCR combined with sanger sequencing, 51 targeted gene mutations in the patients with IDH1/2 mutation were detected by using high throughput DNA sequencing combined with sanger sequencing.

Results: Among 358 patients, the IDH1/2 mutation was found in 46 cases including IDH1 mutation in 35 cases and IDH2 mutation in 11 cases, 97.

[Expression and Function of miR-181b in Diffuse Large B Cell Lymphoma].

Objective: To investigate the expression and function of miR-181b in diffuse large B cell lymphoma (DLBCL).

Methods: The lymphoid tissues of 124 patients with DLBCL examined and treated in our hospital from March 2010 to March 2012 were used as the DLBCL group. The healthy lympaid dissases in another 64 patients with non lymphaoma were selected as the control group.

[Analysis of IDH1 and IDH2 mutations in patients with acute myeloid leukemia].

Objective: To explore the prevalence of IDH gene (IDH1 and IDH2) mutations, types of mutations in patients with acute myeloid leukemia (AML), correlation with the internal tandem duplication(ITD) mutation of FLT3 gene, NPM1 gene mutation and some clinical characteristics.

Methods: The mutations of IDH1 and IDH2 gene at exon 4, NPM1 gene at exon 12 and FLT3-ITD at exon 14 and 15 in 163 newly diagnosed AML patients were detected by PCR amplification followed by direct sequencing of genomic DNA.

Results: (1) IDH mutations were found in 25 patients (25/163), and all were heterozygous, of which IDH1 in 7 patients (4.

[Detection and clinical significance of JAK2 mutation in 412 patients with chronic myeloproliferative neoplasms].

Objective: To investigate the frequency of JAK2V617F mutation in Chinese patients with chronic myeloproliferative neoplasms (MPN) and to study the relationship between JAK2V617F mutation and clinical characteristics.

Methods: JAK2V617F mutation was screened by allele-specific polymerase chain reaction (AS-PCR).

Results: JAK2V617F mutation was detected in 277 of the 412 patients with MPN.

[A quantitative assay for JAK2 mutation in 135 patients with chronic myeloproliferative neoplasms].

Objective: To investigate the frequency and mutational status of JAK2 mutation in Chinese patients with chronic myeloproliferative neoplasms (MPN) and study the relative quantitation and clinical implications of mutated JAK2 transcript.

Methods: JAK2 mutation and the mutational status were screened with amplification-refractory mutation sequencing polymerase chain reaction (ARMS-PCR), the relative quantity of mutated JAK2 mRNA by using capillary electrophoresis.

Results: JAK2V617F mutation was detected in 95 of 135 MPN patients, including 37 (97.

[Detection of JAK2V617F mutation and its clinical significance in 80 patients with M2 acute myelogenous leukemia].

Objective: To explore the prevalence and prognostic significance of JAK2V617F gene mutation in acute myelogenous leukemia M2 (AML-M2) patients.

Methods: Allele specific polymerase chain reaction (PCR) was used to detect JAK2 gene mutation.

Results: Of 80 de novo AML-M2 patients, 6 at the time of first diagnosis and 1 at relapse were found to have JAK2V617F gene mutation (8.

[The quantitative assay and clinical significance of JAK2V617F mutation in 131 patients with chronic myeloproliferative disorders].

Objective: To investigate the frequency and mutational status of JAK2V617F mutation in Chinese patients with chronic myeloproliferative disorders (CMPD) and to study the relative quantification of mutated JAK2 mRNA and the clinical significance.

Methods: JAK2V617F mutation and the mutational status were screened with amplification-refractory mutation system polymerase chain reaction (ARMS-PCR), the relative quantification of mutated JAK2 mRNA was studied by using capillary electrophoresis.

Results: A higher prevalence of JAK2V617F in either the heterozygote or homozygote status in essential thrombocythemia (ET) was observed in elderly patients with ET (P < 0.

[Quantitative analysis for JAK2 mutation in 98 patients with essential thrombocythemia and its clinical significance].

The objective of this study was to identify the frequency and types of JAK2V617F mutation in chinese patients with essential thrombocythemia (ET), to quantitatively detect the level of mutation transcripts and to investigate its clinical significance. The frequency and types of JAK2V617F mutation were detected by amplification-refractory mutation sequencing polymerase chain reaction (ARMS-PCR), the transcript level of JAK2V617F mutation was determined by using capillary electrophoresis. The results indicated that the JAK2V617F mutation was detected in 59 out of 98 patient with ET, 18 of whom were homozygous mutation.