MLL team finds 454 Sequencing technology promising for leukemia genetic characterization

This week at the 51^st American Society for Hematology Annual Meeting, a team of researchers from the MLL Munich Leukemia Laboratory presented results from a series of groundbreaking studies which explore alternative, high-throughput 454 Sequencing methods for distinguishing and characterizing the many forms of leukemia and myeloproliferative disorders. Using targeted resequencing techniques from Roche Applied Science (Pink Sheets:RHHBY) (SWX:RO) (SWX:ROG), including NimbleGen Sequence Capture arrays and 454 Life Science’s GS FLX System, the researchers were able to successfully detect all types of molecular mutations identified by conventional methods and, in addition, identify novel mutations in leukemia samples. Importantly, the researchers were able to accurately characterize a range of genetic variation types, such as point mutations, insertions and deletions as well as chromosomal rearrangements, in a single sequencing run while current methods required a combination of different labor-intensive techniques including FISH and standard Sanger sequencing. The results have critical implications on research to develop future diagnostics assays and treatments for this devastating disease.

Leukemia is a cancer of the blood which causes rapid, abnormal proliferation of blood cells and consists of a broad spectrum of subtypes. While a number of treatment options are available, understanding the genetics and molecular composition of an individual’s leukemia type is essential to determining the best course of action. Current methodologies are labor-intensive, expensive, rely on expert-knowledge, and often lack the sensitivity required to detect rare mutations. The MLL Munich Leukemia Laboratory team, led by Dr. Torsten Haferlach, CEO, recognized the power and speed of high-throughput sequencing to address these issues. “We identified 454 Sequencing technology as a promising method to characterize leukemia and other hematological malignancies. In our research on a variety of leukemia types and myeloproliferative neoplasms, we confirmed that not only are we able to comprehensively detect all types of known molecular mutations, but to identify also novel mutations, such as fusion partner genes resulting from balanced translocation events.”