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Stem cell mutation linked to leukemia

A Transgenomic product story
Edited by the Laboratorytalk editorial team Apr 25, 2006

Study linking stem cell mutation to blood disorder and development of leukemia; targeted screening of rare cell populations provides clues to disease mechanism and suggests therapeutic strategies

Transgenomic has announced the publication of a study in which work performed by its discovery services team contributed to the finding that patients with a disorder called polycythemia vera (PV) have a mutation in the JAK2 gene in hematopoietic stem cells.

These stem cells represent an early developmental stage in which the blood cells have not yet committed to a specialized function.

The JAK2 mutation is likely to be associated with the excessive production of red blood cells in the bone marrow which is characteristic of PV.

Catriona HM Jamieson of the Moores Cancer Center at the University of California, San Diego, key contributing Stanford physician, Jason Gotlib, and lead scientist Irving Weissman, director of the Institute for Stem Cell Biology and Regenerative Medicine and Comprehensive Cancer Center at the Stanford University School of Medicine, described this work in an article entitled 'The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation', which was published in the Proceedings of the National Academy of Sciences on 18 April 2006 Jamieson commented on Transgenomic's contribution to this work.

"The ability of Transgenomic Discovery Services' scientists to assess the mutational status of valuable clinical specimens that were available in limited quantities, and to do so in a timely manner, was critical to our success in this study." Stan Lilleberg, Transgenomic's director of translational and clinical research and a co-author on the publication, stated, "We are pleased to have been involved in this ground-breaking work by doctors Jamieson, Weissman and colleagues, and believe their findings will prove to be an important step in the development of targeted therapeutic strategies for treating polycythemia vera and related disorders, including some forms of leukemia.".

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