ArticleBMC medical genomics2020
Detection of leukemia gene fusions by targeted RNA-sequencing in routine diagnostics.
Article in BMC medical genomics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 32 citations in OpenAlex.
- RNA Sequencing Technologies in Acute Lymphoblastic Leukemia: A Comparative Technical Review.Current issues in molecular biology · 2026Review
- Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia.Annals of laboratory medicine · 2026Article
- Oncogenic gene fusions in cancer: from biology to therapy.Signal transduction and targeted therapy · 2025Review
- Application of RNA-Based Next-Generation Sequencing Fusion Assay for Hematological Malignancies.International journal of molecular sciences · 2025Article
- Detection of leukemia gene fusions on DNA-level through targeted Next-Generation Sequencing.PloS one · 2025Article
- Fusion Genes in Myeloid Malignancies.Cancers · 2024Review
- Evaluation of Hi-C Sequencing for Detection of Gene Fusions in Hematologic and Solid Tumor Pediatric Cancer Samples.Cancers · 2024Article
- Real-World Clinical Utility of Targeted RNA Sequencing in Leukemia Diagnosis and Management.Cancers · 2024Article
- Comprehensive insights into AML relapse: genetic mutations, clonal evolution, and clinical outcomes.Cancer cell international · 2024Article
- Article
- Genomic technologies for detecting structural variations in hematologic malignancies.Blood research · 2024Review
- Detection of Hybrid Fusion Transcripts, Aberrant Transcript Expression, and Specific Single Nucleotide Variants in Acute Leukemia and Myeloid Disorders with Recurrent Gene Rearrangements.Pathobiology : journal of immunopathology, molecular and cellular biology · 2024Article
- Article
- Preleukemic Fusion Genes Induced via Ionizing Radiation.International journal of molecular sciences · 2023Review
- RaScALL: Rapid (Ra) screening (Sc) of RNA-seq data for prognostically significant genomic alterations in acute lymphoblastic leukaemia (ALL).PLoS genetics · 2022Article
- Comparative evaluation of the developed targeted RNA sequencing system and a commercialized test panel.Blood research · 2022Article
- A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes.Molecular cytogenetics · 2022Article
- Improved Gene Fusion Detection in Childhood Cancer Diagnostics Using RNA Sequencing.JCO precision oncology · 2022Article
- Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundWe have evaluated an NGS-based method to detect recurrent gene fusions of diagnostic and prognostic importance in hematological malignancies. Our goal was to achieve a highly specific assay with a simple workflow, short turnaround time and low cost.
methodThe assay uses a commercially available anchored multiplex PCR panel for target enrichment and library preparation, followed by sequencing using a MiSeq instrument. The panel includes all recurrent gene fusions in AML and ALL and is designed to detect gene-specific fusions without prior knowledge of the partner sequence or specific break points. Diagnostic RNA samples from 27 cases with hematological malignancies encompassing 23 different transcript variants were analyzed. In addition, 12 cases from a validation cohort were assessed.
resultAll known fusion transcripts were identified with a high degree of confidence, with a large number of reads covering the breakpoints. Importantly, we could identify gene fusions where conventional methods had failed due to cryptic rearrangements or rare fusion partners. The newly-identified fusion partners were verified by RT-PCR and transcript-specific qPCR was designed for patient-specific follow-up. In addition, 12 cases were correctly assessed in a blind test, without prior knowledge of molecular cytogenetics or diagnosis.
conclusionIn summary, our results demonstrate that targeted RNA sequencing using anchored multiplex PCR can be implemented in a clinical laboratory for the detection of recurrent and rare gene fusions in hematological diagnostic samples.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.