JAK2-V617F Mutation and Philadelphia Positive Chronic Myeloid Leukemia
-
Fatemeh Nadali
,
Sh Ferdowsi
,
P Karimzadeh
,
Bahram Chahardouli
,
N Einollahi
,
SA Mousavi
,
Babak Bahar
,
H Dargahi
,
Kamran Alimoghaddam
,
Ardeshir Ghavamzadeh
,
SH Ghaffari
Abstract
JAK2 is a tyrosine kinase that plays an important role in the signaling pathways of many hematopoietic growth factor receptors. A single acquired point mutation – V617F – in JAK2 occurs in the great majority of patients with polycythemia vera (PV) and approximately half of the patients with idiopathic myelofibrosis (IMF) or essential thrombocythemia (ET). In contrast, the JAK2-V617F mutation is only rarely found in chronic myeloid leukemia (CML) but, recently, some authors have reported the coexistence of JAK2V617F and BCR/ABL+ in CML patients expressing the p210 BCR–ABL oncoprotein. Here, we report a CML patient with the expression of p210/b2a2 type BCR–ABL transcript and JAK2V617F mutation.
Bocchia M, Vannucchi AM, Gozzetti A, et al. Insights into JAK2-V617F Mutation in CML. Lancet Oncol, 2007; 8: 864– 6.
Mirza I, Frantz C, Clarke G, et al. Transformation of Polycythemia Vera to Chronic Myelogenous Leukemia. Arch Pathol Lab Med, 2007; 131: 1719–24.
Hussein K, Bock O, Seegers A, et al. Myelofibrosis Evolving During Imatinib Treatment of a Chronic Myeloproliferative Disease with Coexisting BCR-ABL Translocation and JAK2V617F mutation. Blood 2007; 109: 4106–7.
Bornhauser M, Mohr B, Oelschlaegel U, et al. Concurrent JAK2 (V617F) Mutation and BCR-ABL Translocation within Committed Myeloid Progenitors in Myelofibrosis. Leukemia 2007; 21: 1824–6.
Curtin NJ, Campbell PJ, Green AR. The Philadelphia Translocation and Pre-existing Myeloproliferative Disorders. Br J Haematol, 2005; 128: 734–6.
Fialkow PJ, Martin PJ, Najfeld V, et al. Evidence for a Multistep Pathogenesis of Chronic Myelogenous Leukemia. Blood, 1981; 58: 158– 63.
Kralovics R, Teo SS, Li S, et al. Acquisition of the V617F Mutation of JAK2 is a Late Genetic Event in a Subset of Patients with Myeloproliferative Disorders. Blood, 2006; 108: 1377– 80.
Haq AU. Transformation of Polycythemia Vera to Phpositive Chronic Myelogenous Leukemia. Am J Hematol, 1990; 35: 110– 13.
Jones AV, Kreil S, Zoi K, et al: Widespread Occurrence of the JAK2 V617F Mutation in Chronic Myeloproliferative Disorders. Blood, 2005; 106: 2162– 2168.
Jelinek J, Oki Y, Gharibyan V, et al. JAK2 Mutation 1849G>T is Rare in Acute Leukemias but Can be Found in CMML, Philadelphia Chromosome-negative CML, and Megakaryocytic Leukemia. Blood 2005;106: 3370–3.
Jallades L, Hayette S, Tigaud I, et al. Emergence of Therapy-unrelated CML on a Background of BCR-ABLnegative JAK2 V617F-positive Chronic Idiopathicmyelofibrosis. Leuk Res, 2008; 32: 1608–10.
Bornhäuser M, Mohr B, Oelschlaegel U, et al. Concurrent JAK2 (V617F) Mutation and BCR-ABL Translocation within Committed Myeloid Progenitors in Myelofibrosis. Leukemia, 2007; 21: 1824–6.
Mello Conchon M, Costa JL, Novaes M , et al. Simultaneous detection of JAK2 V617F Mutation and Bcr- Abl Translocation in a Patient with Chronic Myelogenous Leukemia. Int J Hematol, 2008; 88: 243– 245.
Kr¨amer A, Reiter A, Kruth J, et al. JAK2-V617F Mutation in a Patient with Philadelphia-chromosomepositive Chronic Myeloid Leukaemia. Lancet Oncol, 2007; 8: 658–60.
Inami M, Inokuchi K, Okabe M, et al. Polycythemia Associated with the JAK2V617F Mutation Emerged During Treatment of Chronic Myelogenous Leukemia. Leukemia, 2007; 21: 1103–4.
Scott LM, Campbell PJ, Baxter EJ, et al. The V617F JAK2 Mutation is Uncommon in Cancers and in Myeloid Malignancies other than the Classic Myeloproliferative Disorders. Blood, 2005; 106: 2920–1.
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| Issue | Vol 3, No 4 (2009) | |
| Section | Articles | |
| Keywords | ||
| JAK2V617F mutation BCR-ABL translocation ASO-PCR ARMS-PCR | ||
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