Evidence map›Paper›PMID 39587921›Full record

ArticleBritish journal of haematology2026

Genocopy of EVI1-AML with paraneoplastic diabetes insipidus: PRDM16 overexpression by t(1;2)(p36;p21) and enhancer hijacking.

Julian List, Etienne Sollier, Fiona Brown-Burke, Katherine Kelly, Dietmar Pfeifer, Valeria Shlyakhto, Kristina Maas-Bauer, Milena Pantic, Christoph Plass, Michael Lübbert

Abstract readCase Reports
In one paragraph

Article in British journal of haematology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Mechanisms of enhancer-driven oncogene activation.International journal of cancer · 2026
    Review
  2. Article
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.

Julian ListDepartment of Hematology, Oncology and Stem Cell Transplantation, University of Freiburg Medical Center, Faculty of Medicine, Freiburg, Germany.ORCID https://orcid.org/0009-0005-6944-3752
Etienne SollierDivision of Cancer Epigenomics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Fiona Brown-BurkeDivision of Cancer Epigenomics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Katherine KellyDivision of Cancer Epigenomics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Dietmar PfeiferDepartment of Hematology, Oncology and Stem Cell Transplantation, University of Freiburg Medical Center, Faculty of Medicine, Freiburg, Germany.
Valeria ShlyakhtoOncology Department, St. Claraspital, Basel, Switzerland.
Kristina Maas-BauerDepartment of Hematology, Oncology and Stem Cell Transplantation, University of Freiburg Medical Center, Faculty of Medicine, Freiburg, Germany.
Milena PanticDepartment of Hematology, Oncology and Stem Cell Transplantation, University of Freiburg Medical Center, Faculty of Medicine, Freiburg, Germany.
Christoph PlassDivision of Cancer Epigenomics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Michael LübbertDepartment of Hematology, Oncology and Stem Cell Transplantation, University of Freiburg Medical Center, Faculty of Medicine, Freiburg, Germany.ORCID https://orcid.org/0000-0003-1186-1650

Funding

Else-Kröner-Fresenius-Stiftung 2021_EKEA.131IMMediate Advanced Clinician Scientist-Program 01EO2103
6 · The paper itself

Abstract

Diabetes insipidus (DI) in patients with acute myeloid leukaemia (AML) and chromosome 3q alterations (EVI1/PRDM3/MECOM overexpression) constitutes a poorly understood paraneoplasia. A 44-year-old patient presented with clinical and morphological features of this syndrome but, surprisingly, disclosed the rare translocation t(1;2)(p36;p21), with massive PRDM16 overexpression. WGS and RNA sequencing suggest enhancer hijacking of the ZFP36L2 enhancer region as underlying mechanism. Methylome alterations were similar to those in EVI1/PRDM3/MECOM AML, indicating converging pathways. The patient was successfully allografted, she is in complete remission 14 months later. We conclude that t(1;2)(p36;p21), with massive PRDM16 overexpression, can result in a faithful genocopy of EVI1/PRDM3/MECOM AML, including DI.

Indexed as

DNA-Binding ProteinsEnhancer Elements, GeneticLeukemia, Myeloid, AcuteMDS1 and EVI1 Complex Locus ProteinOncogene Proteins, FusionTranscription FactorsTranslocation, GeneticAdultFemaleGene Expression Regulation, LeukemicHumansDNA-Binding ProteinsMDS1 and EVI1 Complex Locus ProteinMECOM protein, humanOncogene Proteins, FusionPRDM16 protein, humanTranscription FactorsAMLgenes rearrangementmalignant haematology

Identifiers

PMID39587921
PMCPMC12916193

What Socratic holds

Textmetadata
LicenceCC BY-NC
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 Socratic graph.