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Leukaemia caused by chromosome catastrophe
Date:3/23/2014

uenced nine samples from iAMP21 ALL patients, four with the rare Robertsonian translocation event and five that occurred in the general population. They found that for the four patients with the Robertsonian translocation, the cancer was initiated by a catastrophic genetic event known as chromothripsis. This event shatters a chromosome - in this case the joined chromosomes 15 and 21 - and then the DNA repair machinery pastes the chromosome back together in a highly flawed and inaccurate order. In the five other patients, the cancer was initiated by two copies of chromosome 21 being fused together, head to head, usually followed by chromothripsis.

"This is a remarkable cancer for patients with iAMP 21 ALL we see the same part of the genome struck by massive chromosomal rearrangement," says Yilong Li, a first author from the Wellcome Trust Sanger Institute. "The method we've developed can now be used to investigate genetic changes in all cancer types."

The team found a consistent sequence of genetic events across the patients studied. Although the events at first sight seem random and chaotic, the end result is a new chromosome 21 in which the numbers and arrangement of genes are optimised to drive leukaemia.

The team will now use this method to decipher the genetic events that underlie many different cancer types.

"What is striking about our findings is that this type of leukaemia could develop incredibly quickly potentially in just a few rounds of cell division," says Dr Peter Campbell, co-lead author from the Wellcome Trust Sanger Institute. "We now want to understand why the abnormally fused chromosomes are so susceptible to this catastrophic shattering."


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Contact: Mary Clarke
press.office@sanger.ac.uk
44-012-234-95328
Wellcome Trust Sanger Institute
Source:Eurekalert

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