Bone Marrow Morphologic Features in Polycythemia Vera WithJAK2Exon 12 Mutations

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Bone marrow morphologic features in polycythemia vera with JAK2 exon 12 mutations.

The diagnosis of polycythemia vera (PV) requires the integration of clinical and laboratory findings, bone marrow morphologic features, and JAK2 analysis. JAK2(V617F) (exon 14) mutation is found in 95% of PV cases. Functionally similar mutations in JAK2 exon 12 have also been described, but a thorough bone marrow study has not been done. We identified 7 PV cases with exon 12 mutations; all had ...

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JAK2 exon 12 mutations in polycythemia vera or idiopathic erythrocytosis.

JAK2 exon 12 mutations were detected in 4 out of 20 polycythemia vera and idiopathic erythrocytosis V617F-negative patients and were only present in the myeloid lineage. Initial hematologic data of these patients differ from those of V617F-positive patients, but there is no difference in thrombotic development and myelofibrotic transformation.

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JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.

BACKGROUND The V617F mutation, which causes the substitution of phenylalanine for valine at position 617 of the Janus kinase (JAK) 2 gene (JAK2), is often present in patients with polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis. However, the molecular basis of these myeloproliferative disorders in patients without the V617F mutation is unclear. METHODS We searched f...

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Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera.

To further characterize JAK2 exon 12 mutations, we performed molecular screening in 409 patients with polycythemia vera or unclear erythrocytosis with unmutated JAK2V617. The frequency of JAK2exon12 mutations was 10/63 (15.9%) in PV but only 5/346 (1.4%) in the erythrocytosis cases. Nine different mutations including four new types (D544-L545del, H538DK539LI540S, H538-K539del, V536-F547dup) wer...

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Bone marrow response to erythropoietin in polycythemia vera and chronic granulocytic leukemia.

The regulation of erythropoiesis was control cultures. Erythropoietin was studied in patients with polycythemia ineffective in stimulating iron incorpovera and chronic granulocytic Ieukeration into heme in five patients with mia (CGL). An in vitro culture system polycythemia vera. The marrow rewas employed to determine the response to erythropoietin in vitro was sponse of bone marrow cells to e...

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ژورنال

عنوان ژورنال: American Journal of Clinical Pathology

سال: 2010

ISSN: 0002-9173,1943-7722

DOI: 10.1309/ajcp3z2akuwrgtnm