ArticleBritish journal of haematology2026
Genocopy of EVI1-AML with paraneoplastic diabetes insipidus: PRDM16 overexpression by t(1;2)(p36;p21) and enhancer hijacking.
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.
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Who cites it
2 citing papers in PubMed.
- Mechanisms of enhancer-driven oncogene activation.International journal of cancer · 2026Review
- Enhancer Hijacking Discovery in Acute Myeloid Leukemia by Pyjacker Identifies MNX1 Activation via Deletion 7q.Blood cancer discovery · 2025Article
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10 authors.
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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.
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