Focus research 2022 IGAALD team

Germline alterations of transcription factors in acute leukemia

In collaboration with the University Hospital of Lille, the team coordinated by Cyril Broccardo, identified the PAX5R38H mutation in a family in which all three children developed acute type B lymphoblastic leukemia (B-ALL). PAX5 is a central factor in the production of functional B cells and is often somatically altered in B-ALL. The team showed that the PAX5R38H mutant loses PAX functionality, thus blocking B cells at very early stages, but reacquires properties that may explain the initiation of leukemia. This transformation requires an alteration of the Ras and Jak/Stat pathways. Read the article

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