ArticleBlood advances2025
Integrative cytogenetic and molecular studies unmask "chromosomal mimicry" in hematologic malignancies.
Article in Blood advances, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 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
3 citing papers in PubMed.
- Long-read sequencing unmasks a cryptic three-way translocation resulting in an ETV6::PDGFRB fusion.Molecular cytogenetics · 2025Article
- Early detection and better outcomes: molecular approaches in pediatric hematologic malignancies - a review.Annals of medicine and surgery (2012) · 2025Review
- What the VAF? A guide to the interpretation of variant allele fraction, percent mosaicism, and copy number in cancer.Molecular cytogenetics · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
abstractThe detection of structural variants (SVs) represents a critical component in the diagnostic evaluation and treatment of many hematologic malignancies. Although clinical SV testing mainly consists of traditional cytogenetic methodologies, technological innovations have led to alternative approaches with improved resolution. In this study, we sought to characterize the clinical impact of targeted RNA sequencing on the diagnosis of myeloid and immature lymphoid malignancies. Across a cohort (n = 380) of myeloid (87%) and immature lymphoid (13%) tumors, we compared SVs detected by chromosome banding analysis (CBA) and fusion events detected by anchored multiplex polymerase chain reaction (AMP)-targeted RNA sequencing. Variants detected by either assay were categorized using a 5-tier system: tier 1 (established clinical significance); tier 2 (possible clinical significance); tier 3 (unknown significance); tier 4 (known germ line variants), and tier 5 (no variants detected). The combined use of AMP and CBA improved the detection of clinically relevant (tier 1 or 2) findings in 10% of cases. Unexpectedly, in 1% (3/380) of the patients in our study, CBA appeared to detect a defining SV, for example, t(9;22)(q34;q11.2), that was not confirmed by AMP fusion studies. Subsequent evaluation by orthogonal approaches confirmed breakpoints on the expected chromosomes but did not involve the anticipated genes. Our study indicates that "chromosomal mimicry," a phenomenon in which chromosome morphology resembles a known SV but lacks the expected gene-level rearrangement, is an infrequent but recurrent finding with the potential to confound clinical management. Our study highlights the need for assays with gene-level resolution in the diagnostic evaluation of hematologic malignancies.
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.