Specific Aberrations

Extrachromosomal amplification of the NUP214/ABL fusion gene in T-cell ALL

Two recent studies revealed a novel genetic phenomenon in T-cell ALL: namely cryptic extrachromosomal amplification of a segment from chromosome 9 containing the ABL gene. Barber et al. were the first to report that amplification involving the ABL gene occurred in 5 of 210 (2.3%) children and 3 of 70 (4.3%) adults with T-cell ALL, even though there was no cyto-genetic evidence of amplification, such as double minutes or homogeneously staining regions. The authors suggested that amplified ABL sequences were located on submicroscopic circular extrachromosomal DNA molecules called episomes.

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