ArticleBlood advances2021
Challenging conventional karyotyping by next-generation karyotyping in 281 intensively treated patients with AML.
Article in Blood advances, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 27 citations in OpenAlex.
- Chromosome Karyotyping in Hematological Malignancies: Current Status and Future Directions.Current medical science · 2026Review
- Preliminary evidence for the integration of CNAs, CN-LOH and mutational profiles into the prognostic stratification of elderly patients withOncology letters · 2026Article
- A comprehensive foundation model for generalizable cytogenetics in precision oncology with CHROMA.NPJ precision oncology · 2026Article
- Targeting dysregulated epigenetic and transcription factor networks inBlood neoplasia · 2026Article
- Cancer: From a Genetic Disorder to a Systemic Disease.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Characteristics and prognosis of paediatric normal karyotype acute myeloid leukaemia: A NOPHO-DBH AML study.British journal of haematology · 2025Article
- CYTO-SV-ML: A Machine Learning Tool for Cytogenetic Structural Variant Analysis in Somatic Cell Type Using Genome Sequences.Life (Basel, Switzerland) · 2025Article
- Advances in the Treatment of Acute Myeloid Leukemia: Implications for Low- and Middle-Income Countries.Biomedicines · 2025Review
- Genetic Profiling of Acute and Chronic Leukemia via Next-Generation Sequencing: Current Insights and Future Perspectives.Hematology reports · 2025Review
- Detection of Cancer-Associated Gene Fusion by Ligation-Dependent RT-PCR.Methods in molecular biology (Clifton, N.J.) · 2025Article
- The Prognostic Value of Integrating Copy Number Alteration Profiles inThe application of clinical genetics · 2025Article
- Optical genome mapping in acute myeloid leukemia: a multicenter evaluation.Blood advances · 2023Article
- FISHing for Chromosome Instability and Aneuploidy in the Alzheimer's Disease Brain.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Review
- A Study Protocol for Validation and Implementation of Whole-Genome and -Transcriptome Sequencing as a Comprehensive Precision Diagnostic Test in Acute Leukemias.Frontiers in medicine · 2022Article
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- Cancer Cytogenetics: Deep Roots, New Branches in the Age of Omics.Cancer genomics & proteomicsReview
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Authors and funding
18 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although copy number alterations (CNAs) and translocations constitute the backbone of the diagnosis and prognostication of acute myeloid leukemia (AML), techniques used for their assessment in routine diagnostics have not been reconsidered for decades. We used a combination of 2 next-generation sequencing-based techniques to challenge the currently recommended conventional cytogenetic analysis (CCA), comparing the approaches in a series of 281 intensively treated patients with AML. Shallow whole-genome sequencing (sWGS) outperformed CCA in detecting European Leukemia Net (ELN)-defining CNAs and showed that CCA overestimated monosomies and suboptimally reported karyotype complexity. Still, the concordance between CCA and sWGS for all ELN CNA-related criteria was 94%. Moreover, using in silico dilution, we showed that 1 million reads per patient would be enough to accurately assess ELN-defining CNAs. Total genomic loss, defined as a total loss ≥200 Mb by sWGS, was found to be a better marker for genetic complexity and poor prognosis compared with the CCA-based definition of complex karyotype. For fusion detection, the concordance between CCA and whole-transcriptome sequencing (WTS) was 99%. WTS had better sensitivity in identifying inv(16) and KMT2A rearrangements while showing limitations in detecting lowly expressed PML-RARA fusions. Ligation-dependent reverse transcription polymerase chain reaction was used for validation and was shown to be a fast and reliable method for fusion detection. We conclude that a next-generation sequencing-based approach can replace conventional CCA for karyotyping, provided that efforts are made to cover lowly expressed fusion transcripts.
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