CLL Support Association
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Chromothripsis in CLL ....a 'Big Bang' event?

Chromothripsis in CLL ....a 'Big Bang' event?

Chromothripsis is the phenomenon by which thousands of clustered chromosomal rearrangements occur in localised and confined genomic regions in one massive genomic rearrangement during a single catastrophic event in the cells' history.

A quote from this study....still a work in progress.

'We confirmed the single catastrophic model for chromothripsis, but we showed that it

appeared years after the CLL diagnosis, rejecting a hypothetic role in the tumor

initiation. Our data suggest that chromothripsis might have been the consequence of

previous alterations expanded from an early leukemia cell, which would have led to

chromosome instability associated with defects in DNA repair.

The complex rearrangements of chromothripsis added on a previous tumor cell carrying expanded alterations might have conferred a selective advantage to the sub clonal population increasing its malignancy, providing a more aggressive CLL phenotype.'

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