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

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Abstract

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.

Autore Pugliese

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  • STORLAZZI C.T.

Titolo volume/Rivista

Non Disponibile

Anno di pubblicazione

2011

ISSN

2210-7762

ISBN

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Numero di citazioni Wos

2

Ultimo Aggiornamento Citazioni

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Numero di citazioni Scopus

2

Ultimo Aggiornamento Citazioni

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Settori ERC

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Codici ASJC

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