Dataset Information

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

ABSTRACT:

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.

SUBMITTER: Lit BMW

PROVIDER: S-EPMC9575498 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature

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Publications

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

Lit Benny Man Wai BMW Guo Belinda B BB Malherbe Jacques A J JAJ Kwong Yok Lam YL Erber Wendy N WN

Cancer reports (Hoboken, N.J.) 20211006 10

<h4>Background</h4>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.<h4>Aims</h4>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.<h4>Methods</h4>In total, we studied samples from 87 ...[more]

PMID: 34617422

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Project description:BackgroundBarth syndrome (BTHS) is a rare X-linked recessive disease characterized by cardiomyopathy, neutropenia, skeletal myopathy and growth delay. Early diagnosis and appropriate treatment may improve the prognosis of this disease. The purpose of this study is to determine the role of targeted next-generation sequencing (NGS) in the early diagnosis of BTHS in children with cardiomyopathy.MethodsDuring the period between 2012 and 2015, a gene panel-based NGS approach was used to search for potentially disease-causing genetic variants in all patients referred to our institution with a clinical diagnosis of primary cardiomyopathy. NGS was performed using the Illumina sequencing system.ResultsA total of 180 Chinese pediatric patients (114 males and 66 females) diagnosed with primary cardiomyopathy were enrolled in this study. TAZ mutations were identified in four of the male index patients, including two novel mutations (c.527A > G, p.H176R and c.134_136delinsCC, p.H45PfsX38). All four probands and two additional affected male family members were born at full term with a median birth weight of 2350 g (range, 2000-2850 g). The median age at diagnosis of cardiomyopathy was 3.0 months (range, 1.0-20.0 months). The baseline echocardiography revealed prominent dilation and trabeculations of the left ventricle with impaired systolic function in the six patients, four of which fulfilled the diagnostic criteria of left ventricular noncompaction. Other aspects of their clinical presentations included hypotonia (6/6), growth delay (6/6), neutropenia (3/6) and 3-methylglutaconic aciduria (4/5). Five patients died at a median age of 7.5 months (range, 7.0-12.0 months). The cause of death was heart failure associated with infection in three patients and cardiac arrhythmia in two patients. The remaining one patient survived beyond infancy but had fallen into a persistent vegetative state after suffering from cardiac arrest.ConclusionsThis is the first report of systematic mutation screening of TAZ in a large cohort of pediatric patients with primary cardiomyopathy using the NGS approach. TAZ mutations were found in 4/114 (3.5%) male patients with primary cardiomyopathy. Our findings indicate that the inclusion of TAZ gene testing in cardiomyopathy genetic testing panels may contribute to the early diagnosis of BTHS.

Dataset Information

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

Background

Aims

Methods

Results

Conclusion

Publications

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

Similar Datasets

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