MLL Munich Leukemia Laboratory has used Fluidigm's Access Array technology to help it uncover mutations in over 80 per cent of chronic myelomonocytic leukemia (CMML) patients.
This has helped to provide new insights into the molecular heterogeneity of the disease.
MLL researchers applied the properties of the Fluidigm Access Array System to prepare the samples and barcode the amplicons for next-generation deep-sequencing using 454 sequencing technology.
In a letter to the editor entitled 'Molecular profiling of chronic myelomonocytic leukemia reveals diverse mutations in more than 80 per cent of patients with TET2 and EZH2 being of high prognostic relevance' published on 22 February 2011 issue of Nature Leukemia magazine, researchers found mutations in 81.5 per cent of CMML patients providing new insights into the molecular heterogeneity of leukemia.
Researchers found that besides alterations in TET2, CBL, ASXL1 and the RAS pathway, EZH2 is targeted by various types of frameshift and point mutations.
EZH2 mutations constitute a novel poor prognostic risk group and had the strongest clinical impact of all markers analysed thus far.
Therefore, researchers suggest that EZH2 mutational status should be taken into account in future clinical studies of CMML.