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Blood, 1 July 2007, Vol. 110, No. 1, pp. 375-379.
Prepublished online as a Blood First Edition Paper on March 15, 2007; DOI 10.1182/blood-2006-12-062125.
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Submitted December 8, 2006
Accepted February 24, 2007
Leukemic blasts in transformed JAK2-V617F positive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation
Alexandre Theocharides, Marjorie Boissinot, Francois Girodon, Richard Garand, Soon-Siong Teo, Eric Lippert, Pascaline Talmant, Andre Tichelli, Sylvie Hermouet, and Radek C Skoda*
Division of Clinical Hematology, University Hospital Basel, Basel, Switzerland
Institut de Biologie, INSERM U601, Nantes, France
Laboratoire d'Hematologie, CHU de Dijon, Dijon, France
Laboratoire d'Hematologie, CHU de Nantes, Nantes, France
Department of Research, Experimental Hematology, University Hospital Basel, Basel, Switzerland
Laboratoire d'Hematologie, CHU de Bordeaux, Bordeaux, France
Division of Diagnostic Hematology, University Hospital Basel, Basel, Switzerland
* Corresponding author; email: radek.skoda{at}unibas.ch.
To study the role of the JAK2-V617F mutation in leukemic transformation, we examined 27 patients with myeloproliferative disorders (MPD) who transformed to acute myeloid leukemia (AML). At MPD diagnosis, JAK2-V617F was detectable in 17/27 patients. Surprisingly, only 5/17 patients developed JAK2-V617F positive AML, whereas 9/17 patients transformed to JAK2-V617F negative AML. Microsatellite analysis in a female patient showed that mitotic recombination was not responsible for the transition from JAK2-V617F positive MPD to JAK2-V617F negative AML, and clonality determined by the MPP1-polymorphism demonstrated that the granulocytes and leukemic blasts inactivated the same parental X-chromosome. In a second patient positive for JAK2-V617F at transformation, but with JAK2-V617F negative leukemic blasts, we found del(11q) in all cells examined, suggesting a common clonal origin of MPD and AML. We conclude that JAK2-V617F positive MPD frequently yields JAK2-V617F negative AML and transformation of a common JAK2-V617F negative ancestor represents a possible mechanism.
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