JAK2 V617F mutation detection: Laboratory comparison of two kits using RFLP and qPCR

Genetic Testing and Molecular Biomarkers

Volumn 14, Issue 1, 2010, Pages 13-15

  Shammaa, Dina ^a   Bazarbachi, Ali ^a   Halas, Hussein ^a   Greige, Layal ^a   Mahfouz, Rami ^a  

^a AMERICAN UNIVERSITY OF BEIRUT   (Lebanon)

Author keywords

[No Author keywords available]

Indexed keywords

JANUS KINASE 2;

ARTICLE; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC KIT; GENE MUTATION; HUMAN; INTERMETHOD COMPARISON; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; REAL TIME POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SENSITIVITY AND SPECIFICITY;

AMINO ACID SUBSTITUTION; DNA MUTATIONAL ANALYSIS; HUMANS; JANUS KINASE 2; MUTATION, MISSENSE; MYELOPROLIFERATIVE DISORDERS; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 76949090386     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2009.0119     Document Type: Article

References (18)

1. Baxter EJ, Scott LM, Campbell PJ, et al. (2005). Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 365:1054-1061.
2. Campbell PJ, Griesshammer M, Döhner K, et al. (2006). V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis. Blood 107:2098-2100.
3. Campbell PJ, Scott LM, Buck G, et al. (2005). Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. Lancet 366:1945-1953.
4. Frö hling S, Lipka DB, Kayser S, et al. (2006). Rare occurrence of the JAK2 V617F mutation in AML subtypes M5, M6, and M7. Blood 107:1242-1243.
5. Jelinek J, Oki Y, Gharibyan V, et al. (2005). JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia. Blood 106:3370-3373.
6. Jones AV, Kreil S, Zoi K, et al. (2005). Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 106:2162-2168.
7. Komura E, Chagraoui H, Mansat de Mas V, et al. (2003). Spontaneous STAT5 activation induces growth factor independence in idiopathic myelofibrosis: possible relationship with FKBP51 overexpression. Exp Hematol 31:622-630.
8. Kralovics R, Passamonti F, Buser AS, et al. (2005). A gain-offunction mutation of JAK2 in myeloproliferative disorders. N Engl J Med 352:1779-1790. (Pubitemid 40570926)
9. Levine RL, Belisle C, Wadleigh M, et al. (2006). X-inactivationbased clonality analysis and quantitative JAK2V617F assessment reveal a strong association between clonality and JAK2V617F in PV but not ET=MMM, and identifies a subset of JAK2V617F-negative ET and MMM patients with clonal hematopoiesis. Blood 107:4139-4141.
10. Levine RL, Loriaux M, Huntly BJ, et al. (2005). The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia. Blood 106:3377-3379.
11. Myklebust JH, Blomhoff HK, Rusten LS, et al. (2002). Activation of phosphatidylinositol 3-kinase is important for erythropoietininduced erythropoiesis from CD34 (+) hematopoietic progenitor cells. Exp Hematol 30:990-1000.
12. Saharinen P, Takaluoma K, Silvennoinen O (2000). Regulation of the Jak2 tyrosine kinase by its pseudokinase domain. Mol Cell Biol 20:3387-3395.
13. Scott LM, Campbell PJ, Baxter EJ, et al. (2005). The V617F JAK2 mutation is uncommon in cancers and in myeloid malignancies other than the classic myeloproliferative disorders. Blood 106:2920-2921.
14. Socolovsky M, Fallon AE, Wang S, et al. (1999). Fetal anemia and apoptosis of red cell progenitors in Stat5a=5b=mice: a direct role for Stat5 in Bcl-X(L) induction. Cell 98:181-191.
15. Steensma DP, Dewald GW, Lasho TL, et al. (2005). The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes. Blood 106:1207-1209.
16. Ugo V, Marzac C, Teyssandier I, et al. (2004). Multiple signaling pathways are involved in erythropoietin-independent differentiation of erythroid progenitors in polycythemia vera. Exp Hematol 32:179-187.
17. Witthuhn BA, Quelle FW, Silvennoinen O, et al. (1993). JAK2 associates with the erythropoietin receptor and is tyrosine phosphorylated and activated following stimulation with erythropoietin. Cell 74:227-236.
18. Zhao R, Xing S, Li Z, et al. (2005). Identification of an acquired JAK2 mutation in polycythemia vera. J Biol Chem 280:22788-22792.