Detection of the JAK2V617F mutation in myeloproliferative disorders by melting curve analysis using the lightcycler system

Archives of Pathology and Laboratory Medicine

Volumn 130, Issue 7, 2006, Pages 997-1003

  Olsen, Randall J ^a   Tang, Zhouwen ^b,c   Farkas, Daniel H ^d   Bernard, David W ^b   Zu, Youli ^b   Chang, Chung Che ^b   Chang, Jeff C C ^b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b HOUSTON METHODIST HOSPITAL   (United States)

^c WEILL CORNELL MEDICAL COLLEGE   (United States)

^d ChondroCene Inc   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; JANUS KINASE 2; PRIMER DNA;

ACUTE GRANULOCYTIC LEUKEMIA; ALLELE; AMPLICON; ARTICLE; BLOOD; BONE MARROW; CELL LINE; CELL MUTANT; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC VALUE; FLUORESCENCE RESONANCE ENERGY TRANSFER; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MEDICAL EXAMINATION; MELTING CURVE ANALYSIS; MYELOPROLIFERATIVE DISORDER; OLIGONUCLEOTIDE PROBE; PROCESS DEVELOPMENT; PROGNOSIS; QUANTITATIVE ASSAY; REAL TIME POLYMERASE CHAIN REACTION; TITRIMETRY; WILD TYPE;

BONE MARROW CELLS; DNA MUTATIONAL ANALYSIS; FLUORESCENCE RESONANCE ENERGY TRANSFER; HUMANS; JANUS KINASE 2; LEUKEMIA, MYELOID; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; MYELOPROLIFERATIVE DISORDERS; PROTEIN-TYROSINE KINASES; PROTO-ONCOGENE PROTEINS; RETROSPECTIVE STUDIES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRANSITION TEMPERATURE;

EID: 33745966245     PISSN: 00039985     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (25)

1. Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365:1054-1061.
2. James C, Ugo V, Le Couedic JP, et al. A unique clonal JAK2 mutation leading to constitutive signaling causes polycythaemia vera. Nature. 2005;434:1144-1148.
3. Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005;352:1779-1790.
4. Levine RL, Loriaux M, Huntly BJ, et al. The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia. Blood. 2005;106:3377-3379.
5. Steensma DP, Dewald GW, Lasho TL, et al. The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes. Blood. 2005;106:1207-1209.
6. Zhao ZJ, Vainchenker W, Krantz SB, Casadevall N, Constantinescu SN. Role of tyrosine kinases and phosphatases in polycythemia vera. Semin Hematol. 2005;42:221-2219.
7. Jones AV, Kreil S, Zoi K, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood. 2005;106:2162-2168.
8. Bench AJ, Pahl HL. Chromosomal abnormalities and molecular markers in myeloproliferative disorders. Semin Hematol. 2005;42:196-205.
9. 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;106:2920-2921.
10. Sulong S, Case M, Minto L, Wilkins B, Hall A, Irving J. The V617F mutation in Jak2 is not found in childhood acute lymphoblastic leukaemia. Br J Haematol. 2005;130:964-965.
11. Tefferi A, Lasho TL, Schwager SM, et al. The JAK2 tyrasine kinase mutation in myelofibrosis with myeloid metaplasia: lineage specificity and clinical correlates. Br J Haematol. 2005;131:320-328.
12. Chang CC, Lorek J, Sabath DE, et al. Expression of MUM1/IRF4 correlates with clinical outcome in patients with B-cell chronic lymphocytic leukemia. Blood. 2002;100:4671-4675.
13. Dameshek W. Some speculations on the myeloproliferative syndromes. Blood. 1951;6:372-375.
14. Thiele J, Kvasnicka HM. Chronic myeloproliferative disorders with thrombocythemia: a comparative study of two classification systems (PVSG, WHO) on 839 patients. Ann Hematol. 2003;82:148-152.
15. Michiels JJ. Clinical, pathological and molecular features of the chronic myeloproliferative disorders: MPD 2005 and beyond. Hematology. 2005;10(suppl 1):215-223.
16. Michiels JJ, Thiele J. Clinical and pathological criteria for the diagnosis of essential thrombocythemia, polycythemia vera, and idiopathic myelofibrosis (agnogenic myeloid metaplasia). Int J Hematol. 2002;76:133-145.
17. Jones D. Quantitative Detection of the V617F Mutation in JAK2 and Its Role in the Diagnosis of Chronic Myeloproliferative Disorder. Scottsdale, Ariz: Association of Molecular Pathology; 2005.
18. Ohyashiki K, Aota Y, Akahane D, et al. The JAK2 V617F tyrosine kinase mutation in myelodysplastic syndromes (MDS) developing myelofibrosis indicates the myeloproliferative nature in a subset of MDS patients. Leukemia. 2005;19:2359-2360.
19. Percy MJ, McMullin MF. The V617F JAK2 mutation and the myeloproliferative disorders. Hematol Oncol. 2005;23:91-93.
20. Lee JW, Kim YG, Soung YH, et al. The JAK2 V617F mutation in de novo acute myelogenous leukemias. Oncogene. 2006;25:1434-1436.
21. McClure R, Mai M, Lasho T. Validation of two clinically useful assays for evaluation of JAK2 V617F mutation in chronic myeloproliferative disorders. Leukemia. 2005; Nov 3: Epub ahead of print.
22. Xu D, Du J, Schultz C, Ali A, Ratech H. Rapid and accurate detection of monoclonal immunoglobulin heavy chain gene rearrangement by DNA melting curve analysis in the LightCycler System. J Mol Diagn. 2002;4:216-222.
23. White HE, Durston VJ, Seller A, Fratter C, Harvey JF, Cross NC. Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing. Genet Test. 2005;9:190-199.
24. Goerttler PS, Steimle C, Marz E, et al. The Jak2V617F mutation, PRV-1 overexpression, and EEC formation define a similar cohort of MPD patients. Blood. 2005;106:2862-2864.
25. Shannon K, Van Etten RA. JAKing up hematopoietic proliferation. Cancer Cell. 2005;7:291-293.