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Leukemic blasts in transformed JAK2-V617F-positive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation.

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  • 2007-03-17
Published in:
  • 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
English 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.
Language
  • English
Open access status
green
Identifiers
Persistent URL
https://sonar.ch/global/documents/11148
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