ArticlePloS one2019
Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.
Article in PloS one, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Recurrent somatic mutations and low germline predisposition mutations in Korean ALL patients.Scientific reports · 2021Trial
- Molecular Profiling of Acute Myeloid Leukemia in Pakistan: Comprehensive Variant Landscape Revealed by Targeted NGS.International journal of molecular sciences · 2026Article
- An innovative full-size pathogenic tandem duplication mutation precise detection system based on next-generation sequencing.Experimental biology and medicine (Maywood, N.J.) · 2025Article
- Comparison of Optical Genome Mapping With Conventional Diagnostic Methods for Structural Variant Detection in Hematologic Malignancies.Annals of laboratory medicine · 2024Article
- Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea.Human genomics · 2023Review
- The Role of Ion Channel-Related Genes in Autism Spectrum Disorder: A Study Using Next-Generation Sequencing.Frontiers in genetics · 2021Article
- Article
- Analytical and Potential Clinical Performance of Oncomine Myeloid Research Assay for Myeloid Neoplasms.Molecular diagnosis & therapy · 2020Article
- Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy.Frontiers in pharmacology · 2020Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The 2016 World Health Organization classification introduced a number of genes with somatic mutations and a category for germline predisposition syndromes in myeloid neoplasms. We have designed a comprehensive next-generation sequencing assay to detect somatic mutations, translocations, and germline mutations in a single assay and have evaluated its clinical utility in patients with myeloid neoplasms. Extensive and specified bioinformatics analyses were undertaken to detect single nucleotide variations, FLT3 internal tandem duplication, genic copy number variations, and chromosomal copy number variations. This enabled us to maximize the clinical utility of the assay, and we concluded that, as a single assay, it can be a good supplement for many conventional tests, including Sanger sequencing, RT-PCR, and cytogenetics. Of note, we found that 8.4-11.6% of patients with acute myeloid leukemia and 12.9% of patients with myeloproliferative neoplasms had germline mutations, and most were heterozygous carriers for autosomal recessive marrow failure syndromes. These patients often did not respond to standard chemotherapy, suggesting that germline predisposition may have distinct and significant clinical implications.
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Registered trials
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