Scientists map genetic evolution of chroniclymphocyticleukemia to Richter's syndrome danafarber NatureMedicine
Because the samples likely had a mix of cells, they used computational methods on these sequencing data to estimate the proportion of CLL and Richter's cells in each one. Knowing the relative levels of different cell types within the samples, they were able to identify the genetic changes that drive the evolution from CLL to Richter's.
"We see myriad differences between CLL and Richter's at the molecular level, with a much more complex genome in Richter's, as well as additional driver events," remarks study co-senior author, Dr. Gad Getz of the Broad Institute and Massachusetts General Hospital."In addition, we've found that Richter's exists in a number of different subtypes."
Being able to identify different subtypes of Richter's can be helpful in the clinic: patients with certain subtypes generally fare better than those with others, although the outlook at the present time is poor for all patients with Richter's. Scientists hope that advances can improve those prospects.Once researchers knew the genomic features of Richter's, they explored whether the disease could be detected by analyzing DNA in patients' plasma, the liquid portion of blood.
"The current therapies for Richter's are of very limited effectiveness, yet there is hope that patients may benefit from novel, more effective agents. Clinical trials of these agents and of stem cell transplant can explore that promise," Wu notes."By the time Richter's is diagnosed, however, patients may be very sick, at which point transplant or other new therapies may not be an option. So detecting it early may make a critical difference.
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