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IRF4 deficiency vulnerates B cell progeny for leukemogenesis via somatically acquired Jak3 mutations conferring IL-7 hypersensitivity

Das Gupta, D.; Paul, C.; Samel, N.; Bieringer, M.; Staudenraus, D.; Marini, F.; Raifer, H.; Menke, L.; Hansal, L.; Camara, B.; Roth, E.; Daum, P.; Wanzel, M.; Mernberger, M.; Nist, A.; Bauer, U.-M.; Helmprobst, F.; Buchholz, M.; Roth, K.; Bastian, L.; Hartmann, A. M.; Baldus, C.; Ikuta, K.; Neubauer, A.; Burchert, A.; Jaeck, H.-M.; Klein, M.; Bopp, T.; Stiewe, T.; Pagenstecher, A.; Lohoff, M.

2022-02-18 cancer biology
10.1101/2022.02.16.480573 bioRxiv
Show abstract

The processes leading from disturbed B cell development to adult B cell progenitor acute lymphoblastic leukemia (BCP-ALL) are poorly understood. Here, we describe Irf4-/- mice as prone to developing BCP-ALL with age. Irf4-/- preB-I cells exhibited impaired differentiation but enhanced proliferation in response to IL-7, along with reduced retention in the IL-7 providing bone marrow niche due to decreased CXCL12 responsiveness. Thus selected, preB-I cells acquired Jak3 mutations, probably following irregular AID activity, resulting in malignant transformation. We demonstrate heightened IL-7 sensitivity due to Jak3 mutants, devise a model to explain it and describe structural and functional similarities to Jak2 mutations often occurring in human Ph-like ALL. Finally, targeting JAK signaling with Ruxolitinib in vivo prolonged survival of mice bearing established Irf4-/- leukemia. Intriguingly, organ infiltration including leukemic meningeosis was selectively reduced without affecting blood blast counts. In this work, we present spontaneous leukemogenesis following IRF4 deficiency with potential implications for high-risk BCP-ALL in adult humans.

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