Pierini Valentina, Nofrini Valeria, La Starza Roberta, Barba Gianluca, Vitale Antonella, Di Raimondo Francesco, Matteucci Caterina, Crescenzi Barbara, Elia Loredana, Gorello Paolo, Storlazzi Clelia Tiziana, Mecucci Cristina
Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, Italy.
Cancer Genet. 2011 Oct;204(10):563-8. doi: 10.1016/j.cancergen.2011.10.005.
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.
在一例具有复杂核型的成人B细胞急性淋巴细胞白血病（B-ALL）中，两条14号染色体均参与了不平衡重排，具体为der(14)t(13;14)(q21;q21)和dup(14)(q11q32)。荧光原位杂交（FISH）在dup(14)处检测到两个CEBPE-IGH重排。一个位于重复断点处，另一个源自CEBPE插入到一个明显正常的IGH基因座。文中讨论了解释这些异常染色体重排的假说。该病例首次证明染色体重复和隐匿插入产生了CEBPE-IGH融合，并且在白血病细胞中可发生不止一次CEBPE-IGH重组。我们的研究结果证实，失调的CEBPE在CEBPE-IGH阳性B-ALL的发病机制中起关键作用。
