Theocharides A Boissinot M Girodon F Garand R Teo SS Lippert E Talmant P Tichelli A Hermouet S Skoda RC 2007 To study the role of the JAK2-V617F mutation in leukemic transformation, we examined 27 patients with myeloproliferative disorders (MPDs) who transformed to acute myeloid leukemia (AML). At MPD diagnosis, JAK2-V617F was detectable in 17 of 27 patients. Surprisingly, only 5 of 17 patients developed JAK2-V617F-positive AML, whereas 9 of 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. application/pdf https://sonar.ch/global/documents/11148 eng info:eu-repo/semantics/altIdentifier/doi/10.1182/blood-2006-12-062125 info:eu-repo/semantics/altIdentifier/pmid/17363731 info:eu-repo/semantics/openAccess Blood. - 2007 Aged Cell Cycle Proteins Cell Transformation, Neoplastic Chromosome Deletion Chromosomes, Human, Pair 11 Chromosomes, Human, X Clone Cells Female Humans Janus Kinase 2 Kinesin Leukemia, Myeloid Male Middle Aged Mutation Myeloproliferative Disorders Phosphoproteins Polymorphism, Genetic Leukemic blasts in transformed JAK2-V617F-positive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation. http://purl.org/coar/resource_type/c_6501