Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Nov 26.
doi: 10.1111/bjh.19922. Online ahead of print.

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

Julian List  1 , Etienne Sollier  2 , Fiona Brown-Burke  2 , Katherine Kelly  2 , Dietmar Pfeifer  1 , Valeria Shlyakhto  3 , Kristina Maas-Bauer  1 , Milena Pantic  1 , Christoph Plass  2 , Michael Lübbert  1
Affiliations

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

Julian List et al. Br J Haematol. .

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.

Keywords: AML; genes rearrangement; malignant haematology.

PubMed Disclaimer

References

REFERENCES

    1. Pritzl SL, Matson DR, Juckett MB, Ciske DJ. Concurrent central diabetes insipidus and acute myeloid leukemia. Case Rep Hematol. 2021;2021:8898671.
    1. Müller CI, Engelhardt M, Laubenberger J, Kunzmann R, Engelhardt R, Lübbert M. Myelodysplastic syndrome in transformation to acute myeloid leukemia presenting with diabetes insipidus: due to pituitary infiltration association with abnormalities of chromosomes 3 and 7. Eur J Haematol. 2002;69(2):115–119.
    1. Ladigan S, Mika T, Figge A, May AM, Schmiegel W, Schroers R, et al. Acute myeloid leukemia with central diabetes insipidus. Blood Cells Mol Dis. 2019;76:45–52.
    1. Lugthart S, Gröschel S, Beverloo HB, Kayser S, Valk PJ, van Zelderen‐Bhola SL, et al. Clinical, molecular, and prognostic significance of WHO type inv(3)(q21q26.2)/t(3;3)(q21;q26.2) and various other 3q abnormalities in acute myeloid leukemia. J Clin Oncol. 2010;28(24):3890–3898.
    1. Weinberg OK, Siddon A, Madanat YF, Gagan J, Arber DA, Dal Cin P, et al. TP53 mutation defines a unique subgroup within complex karyotype de novo and therapy‐related MDS/AML. Blood Adv. 2022;6(9):2847–2853.

LinkOut - more resources