[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.

Distinct pathway activities are associated with prognosis and response to bortezomib-containing treatment in MCL1-M based molecular subtypes of multiple myeloma.

Multiple myeloma (MM) is the second most prevalent hematological malignancy and remains incurable with remarkable heterogeneity in prognosis and treatment response across the patients. Clinical diagnosis and the existing molecular classification systems are inadequate for predicting treatment responses. Based on the convergence between plasma cell development and MM pathogenesis, we identified a gene co-expression module centered on the plasma cell survival regulator MCL1 (MCL1 module, MCL1-M) in the transcriptomes of pre-treated MM, which enabled stratification of MM patients into MCL1-M high and MCL1-M low molecular subtypes with subtype-specific prognosis and response to bortezomib-containing treatment.

Clinicopathological characteristics, prognostic factors, and outcomes of elderly patients with lymphoma-associated hemophagocytic lymphohistiocytosis: A multicenter analysis.

Background: Lymphoma is the most common secondary cause of hemophagocytic lymphohistiocytosis (HLH) in adults. Lymphoma-associated HLH (LA-HLH) in the elderly population is not rare, however, little has been reported regarding clinicopathological characteristics, prognostic factors, and outcomes of LA-HLH in the elderly population.

Methods: We retrospectively analyzed a multicenter cohort of elderly patients with LA-HLH.

Activated interferon response from DNA damage in multiple myeloma cells contributes to the chemotherapeutic effects of anthracyclines.

Introduction: Multiple myeloma (MM) is a malignant plasma cell disease caused by abnormal proliferation of clonal plasma cells in bone marrow. Upfront identification of tumor subgroups with specific biological markers has the potential to improve biologically-driven therapy. Previously, we established a molecular classification by stratifying multiple myeloma into two subtypes with a different prognosis based on a gene module co-expressed with MCL-1 (MCL1-M).

[Expression of CD30 in Patients with Diffuse Large B-Cell Lymphoma and Clinical Significance].

Objective: To investigate the expression and clinical significance of CD30 in patients with diffuse large B-cell lymphoma (DLBCL).

Methods: A retrospective analysis was conducted on 124 cases of primary DLBCL diagnosed at Changzhou Second People's Hospital Affiliated with Nanjing Medical University from January 2018 to July 2020. The expression of CD30 in patients with DLBCL was detected by immunohistochemical method, and the clinicopathological characteristics were analyzed and compared between CD30 and CD30 groups.

The clinical significance and prognostic value of serum beta-2 microglobulin in adult lymphoma-associated hemophagocytic lymphohistiocytosis: a multicenter analysis of 326 patients.

To investigate the prognostic impact of serum beta-2 microglobulin (B2M) in adult lymphoma-associated hemophagocytic lymphohistiocytosis (HLH). The clinical and laboratory characteristics of 326 adult patients in a multicenter cohort with lymphoma-associated HLH with available baseline serum B2M levels were retrospectively analyzed. A total of 326 cases were included in this study, and the median serum B2M level was 5.

Aponermin or placebo in combination with thalidomide and dexamethasone in the treatment of relapsed or refractory multiple myeloma (CPT-MM301): a randomised, double-blinded, placebo-controlled, phase 3 trial.

Background: Aponermin, a circularly permuted tumor necrosis factor-related apoptosis-inducing ligand, is a potential death receptor 4/5-targeted antitumour candidate. Previous phase 1/2 studies have demonstrated the efficacy of aponermin in patients with relapsed or refractory multiple myeloma (RRMM). To confirm the superiority of aponermin plus thalidomide and dexamethasone (aponermin group) over placebo plus thalidomide and dexamethasone (placebo group) in RRMM, a randomized, double-blinded, placebo controlled phase 3 trial was performed.

Clinical features and prognostic significance of DNMT3A, FLT3, and NPM1 mutations in de novo acute myeloid leukemia patients.

Objective: Different co-mutation patterns are associated with varied clinical manifestations and prognosis. The purpose of this research was to explore the clinical characteristics and prognosis of individuals with AML who had DNMT3A, FLT3, and NPM1 mutations.

Materials And Methods: A total of 259 newly diagnosed AML patients were investigated in this study, including 148 AML , 48 AML , and 63 AML patients.

Expert consensus on microtransplant for acute myeloid leukemia in elderly patients -report from the international microtransplant interest group.

Recent studies have shown that microtransplant (MST) could improve outcome of patients with elderly acute myeloid leukemia (EAML). To further standardize the MST therapy and improve outcomes in EAML patients, based on analysis of the literature on MST, especially MST with EAML from January 1st, 2011 to November 30th, 2022, the International Microtransplant Interest Group provides recommendations and considerations for MST in the treatment of EAML. Four major issues related to MST for treating EAML were addressed: therapeutic principle of MST (1), candidates for MST (2), induction chemotherapy regimens (3), and post-remission therapy based on MST (4).

A novel prognostic model of methylation-associated genes in acute myeloid leukemia.

Background: There is growing evidence that methylation-associated genes (MAGs) play an important role in the prognosis of acute myeloid leukemia (AML) patients. Thus, the aim of this research was to investigate the impact of MAGs in predicting the outcomes of AML patients.

Methods: The expression profile and clinical information of patients were downloaded from public databases.

[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.

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.

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.

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.