Evidence map›Paper›PMID 40887320›Full record

ArticleBritish journal of haematology2025

Clinical and molecular characterization of patients with juvenile myelomonocytic leukaemia.

Julia A Meyer, Sherin Xirenayi, Juwita Werner, Rust Turakulov, Aaron Hechmer, Zied Abdullaev, Nayera Hamdy, Adam Olshen, Elliot Stieglitz, Mahmoud Hammad and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in British journal of haematology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

11 authors.

Julia A MeyerDepartment of Pediatrics, Benioff Children's Hospitals, University of California San Francisco, San Francisco, California, USA.ORCID https://orcid.org/0000-0001-5945-9885
Sherin XirenayiDepartment of Pediatrics, Benioff Children's Hospitals, University of California San Francisco, San Francisco, California, USA.
Juwita WernerDepartment of Pediatrics, Benioff Children's Hospitals, University of California San Francisco, San Francisco, California, USA.
Rust TurakulovLaboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Aaron HechmerHelen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, California, USA.
Zied AbdullaevLaboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Nayera HamdyDepartment of Clinical Pathology, National Cancer Institute Cairo University, Cairo, Egypt.
Adam OlshenHelen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, California, USA.
Elliot StieglitzDepartment of Pediatrics, Benioff Children's Hospitals, University of California San Francisco, San Francisco, California, USA.ORCID https://orcid.org/0000-0001-7032-4623
Mahmoud HammadDepartment of Pediatric Oncology, National Cancer Institute Cairo University, Cairo, Egypt.
Alaa ElhaddadDepartment of Pediatric Oncology, National Cancer Institute Cairo University, Cairo, Egypt.

Funding

Translational InformaticsP30CA082103 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Kate Taylor Shumate · 1999 to 2026
$209.7M
Illumina NovaSeq 6000 Sequencing SystemS10OD028511 · OD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI CHOW, ERIC D · 2020 to 2020
$583k
NCI NIH HHS P30 CA082103NCI NIH HHS P30CA082103NIH HHS 1S10OD028511-01NIH HHS S10 OD028511
6 · The paper itself

Abstract

Juvenile myelomonocytic leukaemia (JMML) is a rare haematological malignancy caused by mutations in the Ras signalling pathway. Next-generation sequencing (NGS) and DNA methylation profiling used for diagnostic and risk stratification purposes are now standard of care in Europe and the United States for patients with JMML. To better understand how implementing these types of technologies would impact the treatment of JMML patients in different settings, molecular profiling was performed on 81 patients treated for JMML in Egypt from 2009 to 2022. NGS increased the number of patients with a molecular diagnosis compared to conventional Sanger sequencing. NGS and DNA methylation analysis also identified patients with a higher risk for relapse based on the presence of multiple mutations or intermediate/high methylation respectively. Mutational burden, cytogenetics and methylation subgrouping were combined to develop a risk stratification model that may help to prioritize patients for haematopoietic stem cell transplantation. In summary, advanced molecular testing is key to enabling an accurate diagnosis and predicting outcome in JMML.

Indexed as

Leukemia, Myelomonocytic, JuvenileAdolescentChildChild, PreschoolDNA MethylationFemaleHematopoietic Stem Cell TransplantationHigh-Throughput Nucleotide SequencingHumansInfantMaleMutationacute leukaemiachildhood haematological malignancieschildhood leukaemiamyeloid leukaemiamyeloproliferative disorder

Identifiers

PMID40887320
PMCPMC13256139

What OpenQuestion holds

Textmetadata
LicenceTDM
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.