Gene mutation patterns of Chinese acute myeloid leukemia patients by targeted next-generation sequencing and bioinformatic analysis

Han, Xiaoyu; Li, Wei; He, Na; Feng, Ping; Pang, Yingxin; Ji, Chunyan; Ma, Daoxin

doi:10.1016/j.cca.2018.01.006

Cited by 9 publications

(13 citation statements)

References 51 publications

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“…Other studies have demonstrated patients with mutations of FLT3-ITD, DNA methyltransferase 3A (DNMT3A), isocitrate dehydrogenases (IDH) 1, and teneleven translocation 2 (TET2) were risk factors for overall survival (OS) [4,26]. The mutation patterns of Chinese AML patients by NGS revealed correlations between gene mutations and clinical features.…”

Section: Flt3mentioning

confidence: 99%

“…The mutation patterns of Chinese AML patients by NGS revealed correlations between gene mutations and clinical features. Routine testing of suspected genes by NGS are recommended for better prognostic prediction and individualized treatment [4]. FLT3-ITD mutational status and KMT2E gene expression levels can be used to identify those AML patients who need to be treated differently to maximize their chances of cure [31].…”

Section: Flt3mentioning

confidence: 99%

“…NPM1 is frequently mutated and the incidence occur in up to 30% of AML patients overall and 40-60% of patients with normal karyotypes [3,4,60,69]. Mutated NPM1 (mNPM1) is associated with a higher complete remission, improved OS, and a lower cumulative incidence of relapse [60].…”

Section: Npm1mentioning

confidence: 99%

“…Six genes, including FMSlike tyrosine kinase 3 (FLT3), nucleophosmin 1 (NPM1), CCAAT/enhancer binding protein alpha (CEBPA), Runtrelated transcription factor 1 (RUNX1), additional sex combs-like 1 (ASXL1), and tumor protein p53 (TP53), have already been incorporated into the risk categories proposed by the European Leukemia Net (ELN) [2]. Other recurrent gene mutations have been reported in AML patients [3][4][5][6][7][8]. Furthermore, the important roles of recurrent gene mutation in AML pathogenesis had been explored and gene mutation-targeted therapies had been developed [8][9][10][11][12][13][14][15].…”

Section: Introductionmentioning

confidence: 99%

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Clinical implications of recurrent gene mutations in acute myeloid leukemia

Zhang

et al. 2020

Exp Hematol Oncol

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Acute myeloid leukemia (AML) is a genetically heterogeneous clonal malignancy characterized by recurrent gene mutations. Genomic heterogeneity, patients' individual variability, and recurrent gene mutations are the major obstacles among many factors that impact treatment efficacy of the AML patients. With the application of cost-and time-effective next-generation sequencing (NGS) technologies, an enormous diversity of genetic mutations has been identified. The recurrent gene mutations and their important roles in acute myeloid leukemia (AML) pathogenesis have been studied extensively. In this review, we summarize the recent development on the gene mutation in patients with AML.

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Section: Flt3mentioning

confidence: 99%

Section: Flt3mentioning

confidence: 99%

Section: Npm1mentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Clinical implications of recurrent gene mutations in acute myeloid leukemia

Zhang

et al. 2020

Exp Hematol Oncol

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“…NGS gene panels for the diagnosis of hematologic malignancies typically assay 20-60 full-length genes and/or parts of genes containing known mutation hotspots. Some studies have focused on a single cancer type, most commonly AML, [1][2][3][4][5][6][7][8][9][10][11][12][13][14] while others have included a range of myeloid-related neoplasms. [15][16][17][18][19][20][21][22] Assays which contain a customized set of genes (and/or hotspots) have been useful on a research basis to describe the extent of myeloid mutations, 13,15,20,21,[23][24][25][26][27] while clinical testing can benefit from studies which use and validate more widely available commercial assays.…”

Section: Introductionmentioning

confidence: 99%

Implementation of an NGS‐based sequencing and gene fusion panel for clinical screening of patients with suspected hematologic malignancies

Levy

Santos

Kerkhof

et al. 2019

European J of Haematology

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Objectives:The diagnosis of hematologic malignancies integrates multiple diagnostic and clinical disciplines. Historically, targeted (single-analyte) genetic testing has been used as reflex to initial prescreening by other diagnostic modalities including flow cytometry, anatomic pathology, and clinical cytogenetics. Given the wide range of mutations associated with hematologic malignancies a DNA/RNA-based NGS panel can provide a more effective and economical approach to comprehensive testing of patients as an initial, tier-1 screen. | 179 LEVY Et aL.Methods: Using a cohort of 380 patients, we performed clinical validation of a gene panel designed to assess 40 genes (DNA), and 29 fusion driver genes with over 600 gene fusion partners (RNA), including sample exchange data across three clinical laboratories, and correlation with cytogenetic testing results. Results:The clinical validation of this technology demonstrated that its accuracy, sensitivity, and specificity are comparable to the majority of targeted single-gene approaches, while assessment of the initial patient cohort data demonstrated a high diagnostic yield of 50.5%.Conclusions: Implementation of a tier-1 NGS-based protocol for gene panel screening provides a comprehensive alternative to targeted molecular testing in patients with suspected hematologic malignancies, with increased diagnostic yield, scalability, reproducibility, and cost effectiveness, making it ideally suited for implementation in clinical laboratories.

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Mutation profile of acute myeloid leukaemia in a Chinese cohort by targeted next‐generation sequencing

et al. 2021

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Background Acute myeloid leukaemia (AML) results from the clonal expansion of blast cells of myeloid origin driven by genomic defects. The advances in next‐generation sequencing (NGS) have allowed the identification of many mutated genes important in the pathogenesis of AML. Aims In this study, we aimed to assess the mutation types and frequency in a Chinese cohort presenting with de novo AML cohort using a targeted NGS strategy. Methods In total, we studied samples from 87 adult patients with de novo AML who had no prior history of cytotoxic chemotherapy. Samples were evaluated using a 120‐gene targeted NGS panel to assess the mutation profile. Results Of the 87 AML patients, there were 60 (69%) with a normal karyotype. 89.7% of patients had variants, with an average of 1.9 mutations per patient (range: 0–5 mutations per patient). DNMT3A variants were the most common, being detected in 33 patients (37.9%). NPM1 (34.5%), IDH1/2 (24.1%) and FLT3‐ITD (20.7%) mutations was the next most common. Of the patients with DNMT3A mutations, 24.2% also had mutations NPM1 and FLT3‐ITD and 6.1% NPM1 , FLT3‐ITD and IDH mutations. Conclusion Both DNMT3A and NPM1 mutations were more common than in other Chinese and Western AML cohorts that have been studied. DNMT3A mutations tended to co‐occur with NPM1 and FLT3‐ITD mutations and were most commonly seen with a normal karyotype.

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Gene mutation patterns of Chinese acute myeloid leukemia patients by targeted next-generation sequencing and bioinformatic analysis

Cited by 9 publications

References 51 publications

Clinical implications of recurrent gene mutations in acute myeloid leukemia

Clinical implications of recurrent gene mutations in acute myeloid leukemia

Implementation of an NGS‐based sequencing and gene fusion panel for clinical screening of patients with suspected hematologic malignancies

Mutation profile of acute myeloid leukaemia in a Chinese cohort by targeted next‐generation sequencing

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