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;103(11):4793-4795.
doi: 10.1007/s00277-024-05948-w. Epub 2024 Aug 29.

Unravelling a KMT2A::ARHGEF12 fusion within chromoanagenesis in acute myeloid leukemia using Optical Genome Mapping

Corentine Klos  1 , Pauline Roynard  1 , Céline Berthon  2   3 , Valérie Soenen  4 , Alice Marceau  4 , Elise Fournier  4 , Laurene Fenwarth  3   4 , Agnès Daudignon  1   5 , Catherine Roche  1   3 , Hélène Guermouche  6
Affiliations

Unravelling a KMT2A::ARHGEF12 fusion within chromoanagenesis in acute myeloid leukemia using Optical Genome Mapping

Corentine Klos et al. Ann Hematol. 2024 Nov.
No abstract available

Keywords: KMT2A::ARHGEF12; Acute myeloid leukemia; Chromoanagenesis; Optical genome mapping.

PubMed Disclaimer

Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Detection of KMT2A::ARHGEF12 fusion and its structural mechanism. A Medullar karyotype showing the AML clone with an abnormal long arm of chromosome 11, a deletion of the short arm of a chromosome 12, a loss of chromosome 22 and Y, and a ring chromosome. B FISH analysis using XL KMT2A Break-Apart METASYSTEMS probe showing a ring chromosome carrying the amplification of the 5'KMT2A probe. C OGM circos plot displaying chromosomes 11, 12, 13, 22 and Y, KMT2A::ARHGEF12 fusion is indicated with a red arrow. D Status of copy number regarding chromosomes 11, 12, 13, 22, X and Y. E OGM molecule carrying the KMT2A::ARHGEF12 fusion. F DNA sequence of KMT2A exon 8 (NM_001197104.2) fused to ARHGEF12 exon 13 (NM_001198665.2), the GT junction being common
See this image and copyright information in PMC

References

    1. Khoury JD, Solary E, Abla O et al (2022) The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms. Leukemia 36(7):1703–1719. 10.1038/s41375-022-01613-1 - DOI - PMC - PubMed
    1. Assaf N, Liévin R, Merabet F et al (2021) KMT2A-ARHGEF12, a therapy related fusion with poor prognosis. Mol Biol Rep 48(10):7021–7027. 10.1007/s11033-021-06621-5 - DOI - PubMed
    1. Schafernak KT, Williams JA, Clyde BI, Marcus C, Decker B, Toydemir RM (2021) Identification of KMT2A-ARHGEF12 fusion in a child with a high-grade B-cell lymphoma. Cancer Genet 258–259:23–26. 10.1016/j.cancergen.2021.06.006 - DOI - PubMed
    1. Issa GC, Aldoss I, DiPersio J et al (2023) The menin inhibitor revumenib in KMT2A-rearranged or NPM1-mutant leukaemia. Nature 615(7954):920–924. 10.1038/s41586-023-05812-3 - DOI - PMC - PubMed
    1. Garg S (2023) Towards routine chromosome-scale haplotype-resolved reconstruction in cancer genomics. Nat Commun 14(1):1358. 10.1038/s41467-023-36689-5. (Published 2023 Mar 13) - DOI - PMC - PubMed

LinkOut - more resources