ArticlePloS one2021
Archival bone marrow smears are useful in targeted next-generation sequencing for diagnosing myeloid neoplasms.
Article in PloS one, 2021. 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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9 citing papers in PubMed, 11 citations in OpenAlex.
- Article
- Case Report: Immune-directed post-transplant maintenance with low-dose gemtuzumab ozogamicin and stepwise donor lymphocyte infusion in acute myeloid leukemia with t(1;3)(p36.3;q21).Frontiers in immunology · 2026Article
- Case Report: Immune-driven clonal selection underlying lineage switch from B-Precursor acute lymphoblastic leukemia to acute myeloid leukemia following inotuzumab ozogamicin.Frontiers in immunology · 2026Article
- Telomere shortening in donor cell-derived acute promyelocytic leukemia after allogeneic hematopoietic stem cell transplantation: a case report.Annals of hematology · 2025Article
- Impact of genetic alterations on central nervous system progression of primary vitreoretinal lymphoma.Haematologica · 2024Article
- Recurrent DDX41 mutation in very late relapse after allogeneic stem cell transplantation.Leukemia · 2024Article
- Case Report: Structurally RareOncoTargets and therapy · 2024Article
- CHD5 gene variant predicts leptomeningeal metastasis after surgical resection of brain metastases of breast cancer.Journal of neuro-oncology · 2023Article
- Impact of gene alterations on clinical outcome in young adults with myelodysplastic syndromes.Scientific reports · 2023Article
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gene abnormalities, including mutations and fusions, are important determinants in the molecular diagnosis of myeloid neoplasms. The use of bone marrow (BM) smears as a source of DNA and RNA for next-generation sequencing (NGS) enables molecular diagnosis to be done with small amounts of bone marrow and is especially useful for patients without stocked cells, DNA or RNA. The present study aimed to analyze the quality of DNA and RNA derived from smear samples and the utility of NGS for diagnosing myeloid neoplasms. Targeted DNA sequencing using paired BM cells and smears yielded sequencing data of adequate quality for variant calling. The detected variants were analyzed using the bioinformatics approach to detect mutations reliably and increase sensitivity. Noise deriving from variants with extremely low variant allele frequency (VAF) was detected in smear sample data and removed by filtering. Consequently, various driver gene mutations were detected across a wide range of allele frequencies in patients with myeloid neoplasms. Moreover, targeted RNA sequencing successfully detected fusion genes using smear-derived, very low-quality RNA, even in a patient with a normal karyotype. These findings demonstrated that smear samples can be used for clinical molecular diagnosis with adequate noise-reduction methods even if the DNA and RNA quality is inferior.
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