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Review
. 2021 Oct;48(10):7021-7027.
doi: 10.1007/s11033-021-06621-5. Epub 2021 Aug 12.

KMT2A-ARHGEF12, a therapy related fusion with poor prognosis

Nada Assaf  1 , Raphael Liévin  2   3 , Fatiha Merabet  2   3 , Victoria Raggueneau  4 , Jenifer Osman  4 , Rathana Kim  5   6 , Francine Garnache  7 , Mariella D'Angiò  8 , Patrizia Larghero  9 , Claus Meyer  9 , Rolf Marschalek  9 , Philippe Rousselot  2   3 , Christine Terré  10
Affiliations
Review

KMT2A-ARHGEF12, a therapy related fusion with poor prognosis

Nada Assaf et al. Mol Biol Rep. 2021 Oct.

Abstract

Background: The detection of KMT2A gene rearrangements have an important impact on the prognosis and management of acute leukemias. These alterations most commonly involve reciprocal translocations at specific breakpoint regions within KMT2A. To date, more than 100 translocation partner genes of KMT2A have been identified, with different effects on risk stratification.

Methods and results: We report the case of a mature plasmacytoid dendritic cells proliferation associated with B lymphoblasts harboring a KMT2A-ARHGEF12 fusion. This rare rearrangement, resulting from a cryptic deletion on the long arm of chromosome 11, is located outside the known major and minor breakpoint regions of KMT2A, not reported to date. The review of the few cases of KMT2A-ARHGEF12 reveals the tendency of this deletion to occur in therapy related hematologic neoplasm and confer unfavorable prognosis.

Conclusion: This review sheds light into the rare KMT2A-ARHGEF12 fusion in leukemia. Reporting rare chimeras is essential to improve knowledge about the biological mechanism and associated clinical consequences.

Keywords: ARHGEF12; Acute lymphoid leukemia; Acute myeloid leukemia; KMT2A; Plasmacytoid dendritic cell.

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