A case of polycythemia rubra vera transforming into chronic phase JAK2 V617F mutation-negative Philadelphia chromosome-positive chronic myelogenous leukemia

2013 ◽  
Vol 54 (7) ◽  
pp. 1567-1568 ◽  
Author(s):  
Alexei Shimanovsky ◽  
Frank Bauer ◽  
Joel Silver ◽  
Samuel Lamana ◽  
Constantin A. Dasanu
Keyword(s):  
Chronic Myelogenous Leukemia ◽  
Philadelphia Chromosome ◽  
Chronic Phase ◽  
Jak2 V617f ◽  
Myelogenous Leukemia ◽  
Jak2 V617f Mutation ◽  
Polycythemia Rubra Vera ◽  
V617f Mutation ◽  
Philadelphia Chromosome Positive

Imatinib mesylate therapy in newly diagnosed patients with Philadelphia chromosome–positive chronic myelogenous leukemia: high incidence of early complete and major cytogenetic responses

Blood ◽  
2003 ◽  
Vol 101 (1) ◽  
pp. 97-100 ◽  
Author(s):  
Hagop M. Kantarjian ◽  
Jorge E. Cortes ◽  
Susan O'Brien ◽  
Francis Giles ◽  
Guillermo Garcia-Manero ◽  
...  
Keyword(s):  
Imatinib Mesylate ◽  
Chronic Myelogenous Leukemia ◽  
Quantitative Polymerase Chain Reaction ◽  
Philadelphia Chromosome ◽  
Chronic Phase ◽  
Cytogenetic Response ◽  
Myelogenous Leukemia ◽  
Interferon Α ◽  
Combination Regimens ◽  
Philadelphia Chromosome Positive

Abstract Fifty patients with Philadelphia chromosome–positive (Ph+) chronic myelogenous leukemia (CML) in early chronic phase received imatinib mesylate, 400 mg orally daily. After a median follow-up of 9 months, 49 patients (98%) achieved a complete hematologic response and 45 patients (90%) achieved a major cytogenetic response, complete in 36 patients (72%). Compared with similar patients who received interferon-α with or without hydroxyurea or other interferon-α combination regimens, those receiving imatinib mesylate had higher incidences of complete and major (Ph < 35%) cytogenetic responses at 3 months (34% and 74% versus 1%-4% and 9%-24%, respectively), 6 months (52% and 80% versus 3%-7% and 11%-28%, respectively), and 9 months (60% and 77% versus 5%-11% and 14%-30%, respectively; P < .001). Competitive quantitative polymerase chain reaction (QPCR) studies at 9 months showed a median QPCR value (ratio of BCR-ABL/ABL transcripts × 100) of 0.59% overall and of 0.24% (range, 0.001%-29.5%) for complete cytogenetic response.

Coexistence of a Heterozygous JAK2(V617F) Mutation and a Secondary BCR-ABL Translocation within the Compartment of Committed Myeloid Progenitors in Chronic Idiopathic Myelofibrosis.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 4871-4871
Author(s):  
Martin Bornhaeuser ◽  
Brigitte Mohr ◽  
Uta Oelschlaegel ◽  
Peter Bornhauser ◽  
Swen Jacki ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Philadelphia Chromosome ◽  
Jak2 V617f ◽  
Janus Kinase ◽  
Jak2 V617f Mutation ◽  
Idiopathic Myelofibrosis ◽  
Jak2 Mutation ◽  
V617f Mutation ◽  
Chronic Idiopathic Myelofibrosis ◽  
Philadelphia Chromosome Positive

Abstract Myeloproliferative disorders such as polycythemia vera (PV), essential thrombocytosis (ET) and chronic idiopathic myelofibrosis (CIMF) are clonal hematopoietic diseases with clinical similarities including the risk of transformation into acute myelogeneous leukemia. By definition, these diseases have been separated from Philadelphia chromosome positive (Ph+) CML requiring negativity for the BCR-ABL transcript in PCR studies of bone marrow or peripheral blood. Several groups independently discovered a gain of function mutation of the Janus kinase 2 (JAK2) gene in Ph-negative myeloproliferative diseases. This mutation has been associated with the proliferation of clonogenic progenitors independently of exogenous cytokine stimulation. A sixty-six year old male patient presented with moderate splenomegaly (3 cm under the costal marigin), mild anemia (11.3 g/dl), elevated lactate deyhdrogenase, an increased count of circulating CD34+ cells and a dry bone marrow aspirate. Marrow histology confirmed a prefibrotic stage of chronic idiopathic myelofibrosis (CIMF). Metaphase cytogenetics as well as BCR-ABL FISH were performed on samples from bone marrow, blood and sorted CD34+, CD3+, CD19+ and CD14+ cells from a steady-state back-up leukapheresis. The JAK2(V617F) mutation was confirmed by an allele-specific PCR assay. A screen for BCR-ABL was performed by FISH and PCR in sorted cells as well as in individual colonies (CFU-GM and CFU-E). Four Philadelphia-chromosome positive metaphases could be detected out of 86 derived from the autologous leukapheresis product harvested and cryopreserved as back-up shortly after diagnosis. The BCR-ABL translocation could be detected by fluorescence in-situ hybridisation (FISH) in 2/16 (12.5%) isolated granulocyte/macrophage colonies only whereas all erythroid colonies were negative. The JAK2 mutation was detectable in all clones and was enriched in CD34+ selected cells. The patient experienced progressive splenomegaly despite the achievement of a molecular response measured by quantitative BCR-ABL PCR after treatment with imatinib mesylate. Our in-vitro investigations suggest that the secondary BCR-ABL translocation within the myeloid compartment was of minor pathophysiological relevance in this patient with CIMF harbouring a heterozygous JAK2 mutation.

JAK2-V617F mutation in a patient with Philadelphia-chromosome-positive chronic myeloid leukaemia

2007 ◽  
Vol 8 (7) ◽  
pp. 658-660 ◽  
Author(s):  
Alwin Krämer ◽  
Andreas Reiter ◽  
Jens Kruth ◽  
Philipp Erben ◽  
Andreas Hochhaus ◽  
...  
Keyword(s):  
Chronic Myeloid Leukaemia ◽  
Myeloid Leukaemia ◽  
Philadelphia Chromosome ◽  
Jak2 V617f ◽  
Jak2 V617f Mutation ◽  
V617f Mutation ◽  
Philadelphia Chromosome Positive

Simultaneous detection of JAK2 V617F mutation and Bcr-Abl translocation in a patient with chronic myelogenous leukemia

2008 ◽  
Vol 88 (2) ◽  
pp. 243-245 ◽  
Author(s):  
Monika Ribeiro Mello de Conchon ◽  
Juliana Lima Costa ◽  
Mafalda Megumi Yoshinaga Novaes ◽  
Pedro Enrique Dorlhiac-Llacer ◽  
Dalton de Alencar Fischer Chamone ◽  
...  
Keyword(s):  
Chronic Myelogenous Leukemia ◽  
Simultaneous Detection ◽  
Jak2 V617f ◽  
Myelogenous Leukemia ◽  
Jak2 V617f Mutation ◽  
V617f Mutation
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