Evidence map›Paper›PMID 40148527›Full record

ArticleBJC reports2025

Germline copy number variants in RUNX1: An updated case report and a decade-old red herring.

Natalie T Deuitch, Amra Kajdic, Erica Bresciani, Marshall S Horwitz, Hamish S Scott, Katie Craft, Shawn Chong, David J Young, Lucy A Godley, Paul P Liu

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BJC reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

10 authors.

Natalie T DeuitchOncogenesis and Development Section, Translational and Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA. natalie.deuitch@nih.gov.
Amra KajdicOncogenesis and Development Section, Translational and Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Erica BrescianiOncogenesis and Development Section, Translational and Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Marshall S HorwitzLaboratory Medicine & Pathology, University of Washington School of Medicine, Seattle, WA, USA.
Hamish S ScottCentre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA, Australia.
Katie CraftOncogenesis and Development Section, Translational and Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Shawn ChongOncogenesis and Development Section, Translational and Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
David J YoungTranslational Stem Cell Biology Branch, National Heart Lung and Blood Institute, NIH, Bethesda, MD, USA.
Lucy A GodleyRobert H. Lurie Comprehensive Cancer Center, Division of Hematology/Oncology, Northwestern University, Evanston, IL, USA.
Paul P LiuOncogenesis and Development Section, Translational and Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA. pliu@mail.nih.gov.

Funding

The role of inflammation in driving leukemogenesis in germline predisposition syndromesU01CA257666 · NCI · UNIVERSITY OF CHICAGO · PI AGARWAL, ANUPRIYA, BRESNICK, EMERY H. · 2022 to 2025
$2.5M
NCI NIH HHS U01 CA257666
6 · The paper itself

Abstract

Pathogenic/likely pathogenic (P/LP) germline variants in RUNX1 cause familial platelet disorder with associated myeloid malignancies (FPDMM), also known as RUNX1-Familial Platelet Disorder (RUNX1-FPD, or FPD), a condition characterized by qualitative and quantitative platelet defects and predisposition to hematopoietic malignancies. Here, we present follow up to a case of a woman with acute myeloid leukemia and lifelong thrombocytopenia which had previously been attributed to presumptive pathogenic (P) GATA2 missense variants. However, re-evaluation with updated molecular technology sensitive for detection of copy number variants (CNVs) led to the identification of a P deletion of exons 5-6 in RUNX1, which had been undetected when examined at first presentation. This case highlights the importance of comprehensive molecular evaluation and careful variant interpretation, especially regarding CNVs.

Identifiers

PMID40148527
PMCPMC11950377

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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.