A collaborative study between the Hôpital Saint-Louis, the Team 1 of UMR-S1113 and the IGBMC has identified a new form of high-risk acute B-cell lymphocytic leukemia.
This study identified a novel high-risk B-ALL subtype characterized by a monoallelic deletion in 13q12.2 leading to the monoallelic ectopic expression of the homeobox transcription factor CDX2, located 138 kb in cis from the deletion, and a 17q21.31 microdeletion resulted in a UBTF::ATXN7L3 fusion transcript encoding a chimeric protein. The ectopic expression of CDX2 is induced through hijacking an enhancer located in the PAN3 gene upstream of CDX2.