In this issue of Blood, two independent studies explored a rare subtype of B-progenitor acute lymphoblastic leukemia (B-ALL) characterized by specific genetic alterations, which provide valuable insights into the biological mechanisms and clinical treatment of leukemia.
In this issue of Blood, 2 independent studies, by Kimura et al(1) and Passet et al,(2) describe a novel genetic subtype of B-progenitor acute lymphoblastic leukemia (B-ALL) characterized by 2 separate focal genomic deletions, leading to enhancer retargeting, causing upregulation of CDX2 at chromosome 13, and to the formation of a chimeric gene fusion (UBTF::ATXN7L3) at chromosome 17. This novel subtype is rare, identified in similar to 1% to 2% of B-ALL depending on the study cohorts. One might ask, Why even bother investigating such a rare subtype of ALL? The 2 studies show that this is worthwhile from both a biological and a clinical perspective.
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