[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.

Frequency and clinical impact of WT1 mutations in the context of CEBPA-mutated acute myeloid leukemia.

Introduction: Several studies have confirmed that mutations in the Wilms tumor 1 (WT1) gene occur in adult acute myeloid leukemia (AML). However, few data are available regarding the incidence of WT1 mutations in CEBPA AML and their impact.

Methods: We retrospectively analyzed the frequency and clinical impact of WT1 mutations in 220 newly diagnosed AML patients with CEBPA mutations(CEBPA).

PTPN11 mutations in adult acute myeloid leukaemia: Prevalence and clinical implications in the context of NPM1 mutation.

More than 90% of NPM1-mutated acute myeloid leukaemia (NPM1 AML) patients have been determined to harbour other known concurrent mutations. However, there is limited data on the frequency of PTPN11 and its clinical impact in NPM1 AML. Next-generation sequencing(NGS) was performed retrospectively on 112 genes in 254 patients with NPM1 AML.

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.

Clinical and molecular features of sacrum chordoma in Chinese patients.

Background: Chordoma is a rare malignant bone tumor with high recurrence and metastasis rates. Little is known about the mutational process of this incurable disease. The aim of our research was to explore the potential driver genes and signal pathways in the pathogenesis of chordoma and provide a new idea for the study of molecular biological therapy of chordoma.

[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.

Molecular genetic characterization of acute myeloid leukemia with isolated trisomy of chromosomes 4, 11, and 21.

Background: Autosomal trisomy is a relatively rare abnormality observed in AML, occurring singly or as a secondary event in association with other karyotypic changes, and associated with prognosis. The molecular genetic and clinical characterizations of acute myeloid leukemia (AML) with isolated trisomy 4, 11, or 21 have been poorly investigated.

Materials And Methods: Interphase fluorescence in situ hybridization, reverse transcriptase-quantitative polymerase chain reaction for 41 chromosomal gene translocations/fusion genes, and next-generation sequencing (NGS) were performed on 29 AML patients with trisomy 4, 11, or 21 as the sole chromosomal anomaly.

CTCF: A novel fusion partner of ETO2 in a multiple relapsed acute myeloid leukemia patient.

ETO2 is a nuclear co-repressor, which plays a critical role in the regulation of the cell cycle, self-renewal capacity, and differentiation of hematopoietic progenitor cells. We identified novel fusion transcripts involving ETO2 and CTCF by RNA-seq in a multiple relapsed AML case. The CTCF-ETO2 and ETO2-CTCF chimeric genes were validated by RT-PCR and Sanger sequencing.

Adult Acute Myeloid Leukemia with the KMT2A-Mixed Lineage Leukemia T10 Fusion: An Analysis of 10 Cases Showed Common Features and Frequent Mutations in the RAS Signaling Pathway.

Mixed lineage leukemia (MLL) T10 is a relatively rare partner for the KMT2A lysine (K)-specific methyltransferase 2A gene. The common features and coexisting mutations of acute myeloid leukemia (AML) patients with KMT2A-MLLT10 remain unknown. In this study, 10 adult AML patients with KMT2A-MLLT10 fusions were picked up from 496 AML patients by using RT-polymerase chain reaction (PCR) and/or fluorescence in situ hybridization, and then screened for mutations in the 49 genes panel with next-generation sequencing and PCR, followed by direct Sanger sequencing.

Mutational landscape of chronic myelomonocytic leukemia and its potential clinical significance.

We evaluated the mutational landscape of chronic myelomonocytic leukemia (CMML) and its potential clinical significance. We analyzed 47 samples with a panel of 112 genes using next-generation sequencing. Forty-five of the 47 patients (95.

Additional mutations in IDH1/2-mutated patients with acute myeloid leukemia.

Objective: Somatic mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) frequently emerge in acute myeloid leukemia (AML), but the clinical features and molecular characteristics of IDH mutational status and other coexisting mutations have not been investigated in a large extensively characterized AML series. The aim of this study was to gain insight into the mutational profile of IDH-mutated patients, such as the frequency and clinical characteristics of coexisting mutated genes.

Materials And Methods: We investigated 485 newly diagnosed AML patients (range 18-81 years).

Combination of Gemcitabine and Thymosin alpha 1 exhibit a better anti-tumor effect on nasal natural killer/T-cell lymphoma.

Background: Nasal natural killer/T-cell lymphoma (NNKTL) is an aggressive and poor prognostic malignant tumor along with high-level infection of Epstein-Barr virus (EBV). Gemcitabine (Gem) and Thymosin alpha 1 (Tα1) exert an anti-tumor effect in various cancers. However, the effect of the combination of Gem and Tα1 in NNKTL remains unknown.

Myeloid/lymphoid neoplasm with CEP110-FGFR1 fusion: An analysis of 16 cases show common features and poor prognosis.

The 8p11 myeloproliferative syndrome (EMS) is an extremely rare, generally aggressive haematologic malignancies. This study provided the clinical outcomes and therapeutic strategies for EMS patients confirmed with CEP110-FGFR1 fusion. We report here a case of translocation (8;9) (p12;q33)/CEP110-FGFR1 who received allo-HSCT and achieved molecular remission.

Mutational landscape of patients with acute myeloid leukemia or myelodysplastic syndromes in the context of RUNX1 mutation.

RUNX1 mutations in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) are associated with distinct clinicopathologic features. However, the clinical and laboratory characteristics of the myeloid malignancies may be influenced by the presence of more concomitant mutations. The aim of this study is to provide a further understanding of mutational landscape in the context of RUNX1 mutation in AML/MDS.

[Analysis of ASXL1 gene variant in patients with myelodysplastic syndrome].

Objective: To detect ASXL1 gene variants among patients with myelodysplastic syndrome (MDS) and explore their correlation with variants of other genes and clinical features of patients.

Methods: For 149 patients with MDS, genomic DNA was amplified by PCR and subject to direct sequencing to identify variants of ASXL1, U2AF1, SF3B1, DNMT3A, TET2, IDH1/2, NPM1, FLT3-ITD and C-KIT genes.

Results: ASXL1 variants were found among 37 patients (24.

[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.

[Mutation analysis of 77 patients with normal-karyotype myelodysplastic syndrome].

Objective: To carry out mutation analysis for patients with myelodysplastic syndromes (MDS) and a normal karyotype.

Methods: Targeted capture and next-generation sequencing (NGS) was carried out using a customized 49-gene panel. FLT3 internal tandem duplication (FLT3-ITD), CALR, NPM1 and CEBPA mutations were detected by PCR and Sanger sequencing.

[Characterization of mutational pattern of patients with core-binding factor acute myeloid leukemia].

Objective: To characterize the mutational profile of patients with core-binding factor acute myeloid leukemia (CBF-AML).

Methods: A total of 81 acute myeloid leukemia patients were recruited, which included 36 cases of CBF-AML and 45 cases of cytogenetically normal acute myeloid leukemia (CN-AML) . Mutations of FLT3-ITD, FLT3-TKD, NPM1, c-KIT, NRAS, KRAS, TET2, IDH1/2, RUNX1, DNMT3A, GATA2, ASjXL1, TP53, PTPN11, JAK2V617F, SETBP1 and CEBPA genes were simultaneously detected by DNA-based PCR and Sanger sequencing.