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Cited by 326

The DOI matches its Crossref record; 24 of the 24 references it cites were found in a registry or an index.

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

Theocharides, Alexandre, Boissinot, Marjorie, Girodon, François, Garand, Richard, Teo, Soon-Siong, Lippert, Eric, Talmant, Pascaline, Tichelli, Andre, Hermouet, Sylvie, Skoda, Radek C.·2007·Blood

Abstract

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.

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Metadata

Authors
Theocharides, A., Boissinot, M., Girodon, F., Garand, R., Teo, S.-S., Lippert, E., Talmant, P., Tichelli, A., Hermouet, S., & Skoda, R. C.
Venue
Blood
Published
2007-07-01
Volume
110
Issue
1
Pages
375-379
ISSN
  • 0006-4971 (ISSN-L)
  • 1528-0020
OpenAlex
W2047079894
Cited by
326
References
24
FWCI
16.93
Type
journal article
Language
en
Open access
closed

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CoChat. (2026). Citation check: Leukemic blasts in transformed JAK2-V617F–positive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation. https://app.cochat.ai/papers/10.1182/blood-2006-12-062125
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Theocharides, A., Boissinot, M., Girodon, F., Garand, R., Teo, S.-S., Lippert, E., Talmant, P., Tichelli, A., Hermouet, S., & Skoda, R. C. (2007). Leukemic blasts in transformed JAK2-V617F–positive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation. Blood. https://doi.org/10.1182/blood-2006-12-062125

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