Evidence map›Paper›PMID 37339484›Full record

ArticleBlood advances2023

Genomic landscape of TP53-mutated myeloid malignancies.

Haley J Abel, Karolyn A Oetjen, Christopher A Miller, Sai M Ramakrishnan, Ryan B Day, Nichole M Helton, Catrina C Fronick, Robert S Fulton, Sharon E Heath, Stefan P Tarnawsky and 10 more

Open access · goldAbstract read
In one paragraph

Article in Blood advances, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed, 1 pooled it
8.7field-weighted citation impact, top 2% of its field
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

19 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Article
  4. Article
  5. Article
  6. Pandora's Box of AML: HowBiomedicines · 2025
    Review
  7. Molecular and Clinical Insights intoInternational journal of molecular sciences · 2025
    Review
  8. Review
  9. Article
  10. Review
  11. Article
  12. Are TP53 mutations all alike?Hematology. American Society of Hematology. Education Program · 2024
    Review
  13. Chromothripsis in myeloid malignancies.Annals of hematology · 2024
    Review
  14. Article
  15. Review
  16. Article
  17. Cancers · 2023
    Review
  18. TowardsGenes · 2023
    Article
  19. TP53-Mutated Myelodysplasia and Acute Myeloid Leukemia.Mediterranean journal of hematology and infectious diseases · 2023
    Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

20 authors at 2 institutions in 1 country.

Haley J AbelDivision of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO.
Karolyn A OetjenDivision of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO.ORCID 0000-0002-2846-8831
Christopher A MillerDivision of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO.ORCID 0000-0003-4266-6700
Sai M RamakrishnanDivision of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO.ORCID 0000-0002-4500-6583
Ryan B DayDivision of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO.ORCID 0000-0002-4376-4663
Nichole M HeltonDivision of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO.
Catrina C FronickMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO.ORCID 0000-0002-2766-9551
Robert S FultonMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO.
Sharon E HeathDivision of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO.
Stefan P TarnawskyDivision of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO.ORCID 0000-0002-7970-702X
Sridhar Nonavinkere SrivatsanDivision of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO.
Eric J DuncavageDepartment of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO.
Molly C SchroederDepartment of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO.ORCID 0000-0003-4389-043X
Jacqueline E PaytonDepartment of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO.ORCID 0000-0001-8832-3661
David H SpencerDivision of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO.ORCID 0000-0002-5314-3043
Matthew J WalterDivision of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO.
Peter WesterveltDivision of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO.
John F DiPersioDivision of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO.
Timothy J LeyDivision of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO.
Daniel C LinkDivision of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO.ORCID 0000-0002-3170-7581
Washington University in St. Louis · USJames S. McDonnell Foundation · US

Funding

Washington University Center for Cellular ImagingP30CA091842 · NCI · WASHINGTON UNIVERSITY · PI AIMEE S JAMES · 2001 to 2026
$128.0M
Specimen Acquistition and Expression ProfilingP01CA101937 · NCI · WASHINGTON UNIVERSITY · PI LINK, DANIEL C · 2003 to 2023
$58.8M
Targeting the Bone Marrow Microenvironment In Acute Lymphocytic LeukemiaP50CA171963 · NCI · WASHINGTON UNIVERSITY · PI Daniel C Link · 2013 to 2026
$31.6M
Washington University Paul Calabresi K12 Career Development Award for Clinical OncologyK12CA167540 · NCI · WASHINGTON UNIVERSITY · PI John F. Dipersio, Ramaswamy Govindan · 2012 to 2026
$11.7M
Dysregulated genome architecture in acute myeloid leukemiaR37CA259359 · NCI · WASHINGTON UNIVERSITY · PI David H Spencer · 2022 to 2026
$1.8M
COMPREHENSIVE INFORMATIC ANALYSES OF AML GENOMES AND EPIGENOMESR50CA211782 · NCI · WASHINGTON UNIVERSITY · PI Christopher A Miller · 2017 to 2026
$1.5M
NCI NIH HHS K12 CA167540NCI NIH HHS P01 CA101937NCI NIH HHS P30 CA091842NCI NIH HHS P50 CA171963NCI NIH HHS R37 CA259359NCI NIH HHS R50 CA211782
6 · The paper itself

Abstract

TP53-mutated myeloid malignancies are associated with complex cytogenetics and extensive structural variants, which complicates detailed genomic analysis by conventional clinical techniques. We performed whole-genome sequencing (WGS) of 42 acute myeloid leukemia (AML)/myelodysplastic syndromes (MDS) cases with paired normal tissue to better characterize the genomic landscape of TP53-mutated AML/MDS. WGS accurately determines TP53 allele status, a key prognostic factor, resulting in the reclassification of 12% of cases from monoallelic to multihit. Although aneuploidy and chromothripsis are shared with most TP53-mutated cancers, the specific chromosome abnormalities are distinct to each cancer type, suggesting a dependence on the tissue of origin. ETV6 expression is reduced in nearly all cases of TP53-mutated AML/MDS, either through gene deletion or presumed epigenetic silencing. Within the AML cohort, mutations of NF1 are highly enriched, with deletions of 1 copy of NF1 present in 45% of cases and biallelic mutations in 17%. Telomere content is increased in TP53-mutated AMLs compared with other AML subtypes, and abnormal telomeric sequences were detected in the interstitial regions of chromosomes. These data highlight the unique features of TP53-mutated myeloid malignancies, including the high frequency of chromothripsis and structural variation, the frequent involvement of unique genes (including NF1 and ETV6) as cooperating events, and evidence for altered telomere maintenance.

Indexed as

ChromothripsisLeukemia, Myeloid, AcuteMyelodysplastic SyndromesMyeloproliferative DisordersChromosome AberrationsGenomicsHumansMutationTumor Suppressor Protein p53TP53 protein, humanTumor Suppressor Protein p53

Identifiers

PMID37339484
PMCPMC10425686
OpenAlexW4381434136

What OpenQuestion holds

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LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.