ArticleLeukemia2021
Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing.
Article in Leukemia, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.
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Who cites it
61 citing papers in PubMed, 102 citations in OpenAlex.
- Fusion gene map of acute leukemia revealed by transcriptome sequencing of a consecutive cohort of 1000 cases in a single center.Blood cancer journal · 2021Trial
- Article
- Transcriptomics-based multi-omics approach for optimizing risk stratification in acute myeloid leukemia.Blood science (Baltimore, Md.) · 2026Article
- Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia.Annals of laboratory medicine · 2026Article
- Advances and Challenges in Fusion Gene Detection in Acute Leukemia.Annals of laboratory medicine · 2026Article
- Single-cell profiling reveals reprogrammed hierarchy and disrupted immune-stromal ecosystem in TP53-mutated AML.Experimental hematology & oncology · 2026Article
- Article
- Identification of cryptic KMT2A-PTD and other novel fusion genes by transcriptome sequencing alters molecular risk stratification in AML-NK.Journal of molecular medicine (Berlin, Germany) · 2026Article
- Identification and validation of prognostic genes associated with clear cell renal cell carcinoma: based on public whole transcriptome sequencing datasets.Frontiers in oncology · 2026Article
- The oncogenic role of ecotropic viral integration site 1 in hematological malignancies: mechanisms of activation and leukemogenesis.Frontiers in immunology · 2026Review
- Acute promyelocytic leukemia with a novel TTMV::RARA fusion initially presenting as vertebral myeloid sarcoma: a case report.Frontiers in oncology · 2026Article
- Review
- Review
- LncRNA PELATON regulates Th2 cell differentiation by miR-10b-5p/GATA3 axis in allergic rhinitis.The World Allergy Organization journal · 2025Article
- Transcriptome-based molecular subgroup identification and prognosis stratification in pediatric AML.Annals of hematology · 2025Article
- Classification of acute myeloid leukemia based on multi-omics and prognosis prediction value.Molecular oncology · 2025Article
- Development and application of a whole transcriptome sequencing assay for the detection of gene fusions in clinical cancer specimens.BMC cancer · 2025Article
- Characterization of fusion transcripts in AML without recurrent genetic abnormalities unravels new putative fusion genes.Blood neoplasia · 2025Article
- [Screening of MLL fusion genes and rare breakpoint cases in patients with acute myeloid leukemia].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2025Article
- Exploring treatment-driven subclonal evolution of prognostic triple biomarkers: Dual gene fusions and chimeric RNA variants in novel subtypes of acute myeloid leukemia patients with KMT2A rearrangement.Drug resistance updates : reviews and commentaries in antimicrobial and anticancer chemotherapy · 2025Article
1 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
26 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Acute myeloid leukemia (AML) is caused by genetic aberrations that also govern the prognosis of patients and guide risk-adapted and targeted therapy. Genetic aberrations in AML are structurally diverse and currently detected by different diagnostic assays. This study sought to establish whole transcriptome RNA sequencing as single, comprehensive, and flexible platform for AML diagnostics. We developed HAMLET (Human AML Expedited Transcriptomics) as bioinformatics pipeline for simultaneous detection of fusion genes, small variants, tandem duplications, and gene expression with all information assembled in an annotated, user-friendly output file. Whole transcriptome RNA sequencing was performed on 100 AML cases and HAMLET results were validated by reference assays and targeted resequencing. The data showed that HAMLET accurately detected all fusion genes and overexpression of EVI1 irrespective of 3q26 aberrations. In addition, small variants in 13 genes that are often mutated in AML were called with 99.2% sensitivity and 100% specificity, and tandem duplications in FLT3 and KMT2A were detected by a novel algorithm based on soft-clipped reads with 100% sensitivity and 97.1% specificity. In conclusion, HAMLET has the potential to provide accurate comprehensive diagnostic information relevant for AML classification, risk assessment and targeted therapy on a single technology platform.
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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.