We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
PAX5 alterations in genetically unclassified childhood Precursor B-cell acute lymphoblastic leukaemia.
- Authors
Stasevich, Irina; Inglott, Sarah; Austin, Nicola; Chatters, Steve; Chalker, Jane; Addy, Dilys; Dryden, Carryl; Ancliff, Philip; Ford, Anthony; Williams, Owen; Kempski, Helena
- Abstract
Here, we report a high incidence of PAX5 abnormalities observed in 32/68 (47%) of patients with genetically unclassified childhood precursor B-cell acute lymphoblastic leukaemia (pre-B ALL). Various deletions, gains, mutations and rearrangements of PAX5 comprised 45%, 12%, 29% and 14%, respectively, of the abnormalities found. 28% of patients showed more than one abnormality of the gene, implying bi-allelic impairment of PAX5. Novel PAX5- RHOXF2, PAX5- ELK3 and PAX5- CBFA2T2 rearrangements, which lead to aberrant expression of PAX5, were also identified. PAX5 rearrangements demonstrated a complex mechanism of formation including concurrent duplications/deletions of PAX5 and its partner genes. Finally, the splice variant c.1013-2A>G, seen in two patients with loss of one PAX5 allele, was confirmed to be germ-line in one patient and somatic in the other. PAX5 alterations were also found to be clinically associated with a higher white blood cell count ( P = 0·015). These findings contribute to the knowledge of PAX5 alterations and their role in the pathogenesis of pre-B ALL.
- Subjects
LYMPHOBLASTIC leukemia; B cells; DELETION mutation; GENETIC research; HEMATOLOGY
- Publication
British Journal of Haematology, 2015, Vol 171, Issue 2, p263
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/bjh.13543