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Transgenomic's Technology Enable Detection of Low-Level Mutation in Mast Cell Leukemia

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Transgenomic Inc. has announced the publication of a study demonstrating the combined use of its WAVE HS System and Surveyor Nuclease to enable detection of a disease-associated genetic mutation in mast cell leukemia.

Importantly, use of Transgenomic's technology enabled detection of this mutation at several post-therapy time points that could not be successfully analyzed by direct DNA sequencing, including a time point at which disease relapse was underway.

Dr. Jason Gotlib (Stanford Cancer Center, Stanford CA) and colleagues described this work in an article entitled “Activity of the Tyrosine Kinase Inhibitor PKC412 in a Patient with Mast Cell Leukemia with the D816V KIT Mutation,” which was published in the journal Blood on October 15.

Dr. Gotlib commented on the significance of the work performed by Transgenomic's Discovery Services team, “The ability of Transgenomic scientists to provide highly-sensitive and semi-quantitative data on the frequency of the D816V KIT mutation in bone marrow and peripheral blood before and during PKC412 therapy was a valuable contribution to this study.”

“In addition, the availability of high-sensitivity mutation scanning capability allowed us to have a high degree of confidence that additional mutations in KIT were unlikely to have been the cause of relapse.”

Dr. Stan Lilleberg, Director of Translational and Clinical Research at Transgenomic, commented that the Company's Discovery Services unit routinely uses Surveyor Nuclease coupled with the WAVE HS System for high-sensitivity mutation scanning.

“This approach offers us the capability to detect somatic mutations below the threshold of detection of direct DNA sequencing,” Lilleberg said.

“This capability is increasingly important in the context of monitoring disease progression during therapy and the potential emergence of drug resistance mutations.”

Collin D'Silva, Transgenomic's CEO, said, “The important work by Dr. Gotlib and his colleagues provides an excellent example of efforts to study molecular mechanisms of disease in the clinical setting.”

“In addition, it is an exciting proof-of-principle that a drug resistance mutation can be circumvented with an alternative tyrosine kinase inhibitor.”

“We are very pleased that our Discovery Services team had the opportunity to participate in cutting-edge work of this nature.”