Journal Article

DKFZ-2024-02439

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Genocopy of EVI1-AML with paraneoplastic diabetes insipidus: PRDM16 overexpression by t(1;2)(p36;p21) and enhancer hijacking.

List, J. ; Sollier, E.DKFZ* ; Brown-Burke, F.DKFZ* ; Kelly, K.DKFZ* ; Pfeifer, D. ; Shlyakhto, V. ; Maas-Bauer, K. ; Pantic, M. ; Plass, C.DKFZ* ; Lübbert, M.

2026
Wiley-Blackwell Oxford [u.a.]

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.

Keyword(s): AML ; genes rearrangement ; malignant haematology

Note: S H O R T R E P O R T / 2026 Feb;208(2):498-502

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Contributing Institute(s):

1. Epigenomik (B370)

Research Program(s):

1. 312 - Funktionelle und strukturelle Genomforschung (POF4-312) (POF4-312)

Appears in the scientific report 2024

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Database coverage:
; ; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; DEAL Wiley ; Ebsco Academic Search ; Essential Science Indicators ; IF >= 5 ; JCR ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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