2013
DOI: 10.1182/blood-2012-12-468751
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Hemichorea in a patient with JAK2V617F blood cells

Abstract: committed to multiple hematopoietic lineages. 3 In contrast, Cambier et al provided evidence in another PV patient who developed CML that the PV and CML originated from distinct clones. 4 Our findings indicate that both the JAK2V617F mutation and BCR-ABL1 can occur concurrently in both CFU-GM and BFU-E and that JAK2V617F occurs before the acquisition of BCR-ABL1.The clinical phenotype of myeloproliferative neoplasms frequently evolves over time. Although this progression can be enhanced by the use of chemothe… Show more

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Cited by 10 publications
(13 citation statements)
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“…To our knowledge only one other case of sudden‐onset chorea and a normal hematologic profile, but JAK2 V617F mutation has previously been reported . We argue that the symptoms in our patient at time of the presentation were also associated with PV.…”
Section: Discussionmentioning
confidence: 49%
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“…To our knowledge only one other case of sudden‐onset chorea and a normal hematologic profile, but JAK2 V617F mutation has previously been reported . We argue that the symptoms in our patient at time of the presentation were also associated with PV.…”
Section: Discussionmentioning
confidence: 49%
“…Although the exact pathophysiology is not well understood, chorea typically starts acutely, predominantly affects orofaciolingual muscles, and may be lateralized . Importantly, chorea and other neurologic symptoms may well precede the onset of hematologic changes . Since recognition of the JAK2 V617F mutation, commonly found in patients with PV, the diagnosis can be made even when other laboratory tests are normal …”
Section: Discussionmentioning
confidence: 99%
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“…However, generalized chorea with isolated leukocytosis and JAK2V617F gene mutation has not been previously described, and there are few case reports on this mutation in the absence of PV. As suggested by Lew et al, this may be a type of forme fruste of the full manifestation of the myeloproliferative disorder. Our case demonstrates the importance of checking a complete blood count as part of the workup for late‐onset chorea.…”
Section: Discussionmentioning
confidence: 80%
“…In polycythemia vera, chorea may be due either to autoantibodies or, as currently appears more likely, to hyperviscosity [92]. The presentation can be remarkably asymmetric [93]. Celiac disease has been associated with various possible neurologic conditions, including chorea, w h i c h m a y r e s p o n d t o a g l u t e n -f r e e d ie t [ 9 4 ] .…”
Section: Autoimmune Disordersmentioning
confidence: 99%