Evidence map›Paper›PMID 38730645›Full record

ArticleCancers2024

Genomic Characterization of Partial Tandem Duplication Involving the

Andrew Seto, Gregory Downs, Olivia King, Shabnam Salehi-Rad, Ana Baptista, Kayu Chin, Sylvie Grenier, Bevoline Nwachukwu, Anne Tierens, Mark D Minden and 2 more

Abstract read
In one paragraph

Article in Cancers, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. CharacterizingCancers · 2026
    Article
  5. Review
  6. Article
  7. Detection ofCancers · 2024
    Article
  8. Article
  9. International journal of molecular sciences · 2024
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Andrew SetoGenome Diagnostics & Cancer Cytogenetics Laboratories, Laboratory Medicine Program, University Health Network, Toronto, ON M5G 2C4, Canada.
Gregory DownsGenome Diagnostics & Cancer Cytogenetics Laboratories, Laboratory Medicine Program, University Health Network, Toronto, ON M5G 2C4, Canada.ORCID 0000-0002-5622-9010
Olivia KingGenome Diagnostics & Cancer Cytogenetics Laboratories, Laboratory Medicine Program, University Health Network, Toronto, ON M5G 2C4, Canada.
Shabnam Salehi-RadGenome Diagnostics & Cancer Cytogenetics Laboratories, Laboratory Medicine Program, University Health Network, Toronto, ON M5G 2C4, Canada.
Ana BaptistaGenome Diagnostics & Cancer Cytogenetics Laboratories, Laboratory Medicine Program, University Health Network, Toronto, ON M5G 2C4, Canada.
Kayu ChinGenome Diagnostics & Cancer Cytogenetics Laboratories, Laboratory Medicine Program, University Health Network, Toronto, ON M5G 2C4, Canada.
Sylvie GrenierGenome Diagnostics & Cancer Cytogenetics Laboratories, Laboratory Medicine Program, University Health Network, Toronto, ON M5G 2C4, Canada.
Bevoline NwachukwuGenome Diagnostics & Cancer Cytogenetics Laboratories, Laboratory Medicine Program, University Health Network, Toronto, ON M5G 2C4, Canada.
Anne TierensDepartment of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, ON M5S 1A8, Canada.
Mark D MindenDepartment of Medicine Medical Oncology and Hematology, Princess Margaret Cancer Centre, University of Toronto, Toronto, ON M5G 2M9, Canada.
Adam C SmithGenome Diagnostics & Cancer Cytogenetics Laboratories, Laboratory Medicine Program, University Health Network, Toronto, ON M5G 2C4, Canada.ORCID 0000-0001-9927-4914
José-Mario Capo-ChichiGenome Diagnostics & Cancer Cytogenetics Laboratories, Laboratory Medicine Program, University Health Network, Toronto, ON M5G 2C4, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGene rearrangements affecting

methodsWe have validated the use of a custom hybrid-capture-based next-generation sequencing (NGS) panel for comprehensive profiling of AML patients seen at our institution. This NGS panel targets the entire consensus coding DNA sequence of

resultsWe analyzed 932 AML cases and identified 41 individuals harboring a KMT2A-PTD. MLPA, NGS, and OGM confirmed the presence of a KMT2A-PTD in 22 of the cases analyzed where orthogonal testing was possible. The two false-positive KMT2A-PTD calls by NGS could be explained by the presence of cryptic structural variants impacting

conclusionsKMT2A-PTDs are complex gene rearrangements that cannot be fully ascertained using a single genomic platform. MLPA, NGS panels, and OGM are complementary technologies applied in standard-of-care testing for AML patients. MLPA and NGS panels are designed for targeted copy number analysis; however, our results showed that integration of concurrent genomic alterations is needed for accurate KMT2A-PTD identification. Unbalanced chromosomal rearrangements overlapping with

Indexed as

acute leukemiaKMT2A partial tandem duplication (KMT2A-PTD)multiplex-ligation probe amplification (MLPA)next-generation sequencing (NGS)optical genome mapping (OGM)structural variation

Identifiers

PMID38730645
PMCPMC11082951

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Registered trials

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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.