Melting curve analysis after T allele enrichment (MelcaTle) as a highly sensitive and reliable method for detecting the JAK2V617F mutation

PLoS ONE

Volumn 10, Issue 3, 2015, Pages

  Morishita, Soji ^a   Takahashi, Kochi ^b,c   Araki, Marito ^a   Hironaka, Yumi ^c   Sunami, Yoshitaka ^c   Edahiro, Yoko ^c   Tsutsui, Miyuki ^c   Ohsaka, Akimichi ^a   Tsuneda, Satoshi ^b   Komatsu, Norio ^c  

^a JUNTENDO UNIVERSITY   (Japan)

^b WASEDA UNIVERSITY   (Japan)

^c JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; OLIGONUCLEOTIDE; JANUS KINASE 2;

ARTICLE; BRIDGED NUCLEIC ACID PROBE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; ERYTHROCYTOSIS; FEMALE; GENE; GENE DOSAGE; GENETIC ANALYSIS; GENETIC PARAMETERS; GENETIC SCREENING; HUMAN; JAK2V617F GENE; LIMIT OF DETECTION; MALE; MEASUREMENT ACCURACY; MEASUREMENT PRECISION; MELTING CURVE ANALYSIS; MUTATIONAL ANALYSIS; MYELOPROLIFERATIVE NEOPLASM; NUCLEIC ACID PROBE; POLYMERASE CHAIN REACTION; SENSITIVITY ANALYSIS; SENSITIVITY AND SPECIFICITY; SIGNAL TRANSDUCTION; T ALLELE ENRICHMENT; ALLELE; DNA DENATURATION; DNA MUTATIONAL ANALYSIS; ENZYMOLOGY; GENETICS; MUTATION; MYELOPROLIFERATIVE DISORDER; PROCEDURES; REPRODUCIBILITY;

ALLELES; DNA MUTATIONAL ANALYSIS; HUMANS; JANUS KINASE 2; MUTATION; MYELOPROLIFERATIVE DISORDERS; NUCLEIC ACID DENATURATION; REPRODUCIBILITY OF RESULTS;

EID: 84961290822     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0122003     Document Type: Article

References (28)

1. Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005; 365: 1054-1061. PMID: 15781101
2. James C, Ugo V, Le Couedic JP, Staerk J, Delhommeau F, Lacout C, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005; 434: 1144-1148. PMID: 15793561
3. Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005; 7: 387-397. PMID: 15837627
4. Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005; 352: 1779-1790. PMID: 15858187
5. Tefferi A, Vardiman JW. Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia. 2008; 22: 14-22. PMID: 17882280
6. Jelinek J, Oki Y, Gharibyan V, Bueso-Ramos C, Prchal JT, Verstovsek S, 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: 3370-3373. PMID: 16037387
7. Murugesan G, Aboudola S, Szpurka H, Verbic MA, Maciejewski JP, Tubbs RR, et al. Identification of the JAK2 V617F mutation in chronic myeloproliferative disorders using FRET probes and melting curve analysis. Am J Clin Pathol. 2006; 125: 625-633. PMID: 16627272
8. Poodt J, Fijnheer R, Walsh IB, Hermans MH. A sensitive and reliable semi-quantitative real-time PCR assay to detect JAK2 V617F in blood. Hematol Oncol. 2006; 24: 227-233. PMID: 17006961
9. Morishita S, Komatsu N, Kirito K, Koda AH, Sekiguchi Y, Tsuneda S, et al. Alternately binding probe competitive PCR as a simple, cost-effective, and accurate quantification method for JAK2V617F allele burden in myeloproliferative neoplasms. Leukemia Res. 2011; 35: 1632-1636. doi: 10.1016/j.leukres. 2011.06.016 PMID: 21752468
10. Zhao AH, Gao R, Zhao ZJ. Development of a highly sensitive method for detection of JAK2V617F. J Hematol Oncol. 2011; 4: 40. doi: 10.1186/1756-8722-4-40 PMID: 21985400
11. Shepard GC, Lawson HL, Hawkins GA, Owen J. BsaXI/RFLP analysis of initial or selectively reamplified PCR product is unreliable in detecting the V617F mutation in JAK2. Int J Lab Hematol. 2011; 33: 267-271. doi: 10.1111/j.1751-553X.2010.01282.x PMID: 21118387
12. Huijsmans CJ, Poodt J, Savelkoul PH, Hermans MH. Sensitive detection and quantification of the JAK2V617F allele by real-time PCR blocking wild-type amplification by using a peptide nucleic acid oligonucleotide. J Mol Diagn. 2011; 13: 558-564. doi: 10.1016/j.jmoldx.2011.04.002 PMID: 21723417
13. Rapado I, Albizua E, Ayala R, Hernandez JA, Garcia-Alonso L, Grande S, et al. Validity test study of JAK2 V617F and allele burden quantification in the diagnosis of myeloproliferative diseases. Ann Hematol. 2008; 87: 741-749. doi: 10.1007/s00277-008-0512-x PMID: 18575865
14. Komatsu N, Yamamoto M, Fujita H, Miwa A, Hatake K, Endo T, et al. Establishment and characterization of an erythropoietin-dependent subline, UT-7/Epo, derived from human leukemia cell line, UT-7. Blood. 1993; 82: 456-464. PMID: 8329702
15. Quentmeier H, MacLeod RA, Zaborski M, Drexler HG. JAK2 V617F tyrosine kinase mutation in cell lines derived from myeloproliferative disorders. Leukemia. 2006; 20: 471-476. PMID: 16408098
16. Li J, Janne PA, Makrigiorgos GM. Biotinylated probe isolation of targeted gene region improves detection of T790M epidermal growth factor receptor mutation via peptide nucleic acid-enriched real-time PCR. Clin Chem. 2011; 57: 770-773. doi: 10.1373/clinchem.2010.157784 PMID: 21325655
17. Oh JE, Lim HS, An CH, Jeong EG, Han JY, Lee SH, et al. Detection of low-level KRAS mutations using PNA-mediated asymmetric PCR clamping and melting curve analysis with unlabeled probes. J Mol Diagn. 2010; 12: 418-424. doi: 10.2353/jmoldx.2010.090146 PMID: 20413678
18. Lippert E, Girodon F, Hammond E, Jelinek J, Reading NS, Fehse B, et al. Concordance of assays designed for the quantification of JAK2V617F: a multicenter study. Haematologica. 2009; 94: 38-45. doi: 10.3324/haematol.13486 PMID: 19001280
19. Tani H, Miyata R, Ichikawa K, Morishita S, Kurata S, Nakamura K, et al. Universal quenching probe system: flexible, specific, and cost-effective real-time polymerase chain reaction method. Anal Chem. 2009; 81: 5678-5685. doi: 10.1021/ac900414u PMID: 19530673
20. Kurata S, Kanagawa T, Yamada K, Torimura M, Yokomaku T, Kamagata Y, et al. Fluorescent quenching-based quantitative detection of specific DNA/RNA using a BODIPY((R)) FL-labeled probe or primer. Nucleic Acids Res. 2001; 29: E34. PMID: 11239011
21. Bentin T, Larsen HJ, Nielsen PE. Combined triplex/duplex invasion of double-stranded DNA by "tail-clamp"peptide nucleic acid. Biochemistry. 2003; 42: 13987-13995. PMID: 14636067
22. Torigoe H, Sato N, Nagasawa N. 2′-O,4′-C-ethylene bridged nucleic acid modification enhances pyrimidine motif triplex-forming ability under physiological condition. J Biochem. 2012; 152: 17-26. doi: 10.1093/jb/mvs049 PMID: 22563101
23. Cankovic M, Whiteley L, Hawley RC, Zarbo RJ, Chitale D. Clinical performance of JAK2 V617F mutation detection assays in a molecular diagnostics laboratory: evaluation of screening and quantitation methods. Am J Clin Pathol. 2009; 132: 713-721. doi: 10.1309/AJCPFHUQZ9AGUEKA PMID: 19846812
24. Miller JC, Holmes MC, Wang J, Guschin DY, Lee YL, Rupniewski I, et al. An improved zinc-finger nuclease architecture for highly specific genome editing. Nat Biotechnol. 2007; 25: 778-785. PMID: 17603475
25. Lippert E, Mansier O, Migeon M, Denys B, Nilsson A, Rosmond C, et al. Clinical and biological characterization of patients with low (0.1-2%) JAK2V617F allele burden at diagnosis. Haematologica. 2014; 99: e98-101. doi: 10.3324/haematol.2014.107656 PMID: 24837467
26. Lippert E, Boissinot M, Kralovics R, Girodon F, Dobo I, Praloran V, et al. The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera. Blood. 2006; 108: 1865-1867. PMID: 16728702
27. Larsen TS, Christensen JH, Hasselbalch HC, Pallisgaard N. The JAK2 V617F mutation involves Band T-lymphocyte lineages in a subgroup of patients with Philadelphia-chromosome negative chronic myeloproliferative disorders. Br J Haematol. 2007; 136: 745-751. PMID: 17313377
28. Jovanovic JV, Ivey A, Vannucchi AM, Lippert E, Oppliger Leibundgut E, Cassinat B, et al. Establishing optimal quantitative-polymerase chain reaction assays for routine diagnosis and tracking of minimal residual disease in JAK2-V617F-associated myeloproliferative neoplasms: a joint European Leukemia-Net/MPN&MPNr-EuroNet (COST action BM0902) study. Leukemia. 2013; 27: 2032-2039. doi: 10.1038/leu.2013.219 PMID: 23860450