Display Settings:


Send to:

Choose Destination
See comment in PubMed Commons below
Cancer Genet. 2011 Oct;204(10):563-8. doi: 10.1016/j.cancergen.2011.10.005.

Double CEBPE-IGH rearrangement due to chromosome duplication and cryptic insertion in an adult with B-cell acute lymphoblastic leukemia.

Author information

  • 1Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, Italy.


In an adult case of B-cell acute lymphoblastic leukemia (B-ALL) with a complex karyotype, both chromosomes 14 were involved in unbalanced rearrangements, specifically, der(14)t(13;14)(q21;q21) and dup(14)(q11q32). Fluorescence in situ hybridization (FISH) detected two CEBPE-IGH rearrangements at the dup(14). One was found at the duplication breakpoint and the other derived from insertion of CEBPE into an apparently normal IGH locus. Hypotheses to account for these unusual chromosomal rearrangements are discussed. This case provides the first evidence that chromosome duplication and cryptic insertion produce the CEBPE-IGH fusion and that more than one CEBPE-IGH recombination can occur in a leukemic cell. Our findings confirm that deregulated CEBPE plays a crucial role in the pathogenesis of CEBPE-IGH positive B-ALL.

Copyright © 2011 Elsevier Inc. All rights reserved.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk