Accurate quantitation of JAK2 V617F allele burden by array-based digital PCR

International Journal of Laboratory Hematology

Volumn 37, Issue 2, 2015, Pages 217-224

  Kinz, E ^a,b   Leiherer, A ^a,b   Lang, A H ^a,c   Drexel, H ^a,b,c,d   Muendlein, A ^a  

^a Vorarlberg Institute for Vascular Investigation and Treatment VIVIT   (Austria)

^b PRIVATE UNIVERSITY OF THE PRINCIPALITY OF LIECHTENSTEIN   (Liechtenstein)

^c Academic Teaching Hospital Feldkirch   (Austria)

^d DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

Author keywords

Allele burden; Digital PCR; JAK2 V617F; Myeloproliferative neoplasms; Real time PCR

Indexed keywords

JANUS KINASE 2; CODON;

ALLELE; ARTICLE; CONTROLLED STUDY; GENE MUTATION; HEALTH CARE ORGANIZATION; HUMAN; IN VITRO STUDY; LINEAR REGRESSION ANALYSIS; MYELOPROLIFERATIVE NEOPLASM; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; POLYMERASE CHAIN REACTION SYSTEM; PRIORITY JOURNAL; QUALITY CONTROL; REAL TIME POLYMERASE CHAIN REACTION; WILD TYPE; CODON; GENETICS; MUTATION; MYELOPROLIFERATIVE DISORDERS; PROCEDURES; REPRODUCIBILITY; SENSITIVITY AND SPECIFICITY; STANDARDS;

ALLELES; CODON; DNA MUTATIONAL ANALYSIS; HUMANS; JANUS KINASE 2; MUTATION; MYELOPROLIFERATIVE DISORDERS; POLYMERASE CHAIN REACTION; REAL-TIME POLYMERASE CHAIN REACTION; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 84924801818     PISSN: 17515521     EISSN: 1751553X     Source Type: Journal    
DOI: 10.1111/ijlh.12269     Document Type: Article

References (31)

1. Campbell PJ, Green AR. The myeloproliferative disorders. N Engl J Med 2006;355:2452-66.
2. Rumi E, Elena C, Passamonti F. Mutational status of myeloproliferative neoplasms. Crit Rev Eukaryot Gene Expr 2010;20:61-76.
3. Vardiman JW, Thiele J, Arber DA, Brunning RD, Borowitz MJ, Porwit A, Harris NL, Le Beau MM, Hellstrom-Lindberg E, Tefferi A, Bloomfield CD. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood 2009;114:937-51.
4. Larsen TS, Pallisgaard N, Moller MB, Hasselbalch HC. The JAK2 V617F allele burden in essential thrombocythemia, polycythemia vera and primary myelofibrosis-impact on disease phenotype. Eur J Haematol 2007;79:508-15.
5. Park SH, Chi HS, Cho YU, Jang S, Park CJ. The allele burden of JAK2 V617F can aid in differential diagnosis of Philadelphia Chromosome-Negative Myeloproliferative Neoplasm. Blood Res 2013;48:128-32.
6. Vannucchi AM, Pieri L, Guglielmelli P. JAK2 allele burden in the myeloproliferative neoplasms: effects on phenotype, prognosis and change with treatment. Ther Adv Hematol 2011;2:21-32.
7. Vannucchi AM, Guglielmelli P. JAK2 mutation-related disease and thrombosis. Semin Thromb Hemost 2013;39:496-506.
8. Koren-Michowitz M, Landman J, Cohen Y, Rahimi-Levene N, Salomon O, Michael M, Amariglio N, Nagler A. JAK2V617F allele burden is associated with transformation to myelofibrosis. Leuk Lymphoma 2012;53:2210-3.
9. Tefferi A, Lasho TL, Huang J, Finke C, Mesa RA, Li CY, Wu W, Hanson CA, Pardanani A. Low JAK2V617F allele burden in primary myelofibrosis, compared to either a higher allele burden or unmutated status, is associated with inferior overall and leukemia-free survival. Leukemia 2008;22:756-61.
10. Guglielmelli P, Barosi G, Specchia G, Rambaldi A, Lo CF, Antonioli E, Pieri L, Pancrazzi A, Ponziani V, Delaini F, Longo G, Ammatuna E, Liso V, Bosi A, Barbui T, Vannucchi AM. Identification of patients with poorer survival in primary myelofibrosis based on the burden of JAK2V617F mutated allele. Blood 2009;114:1477-83.
11. Sirhan S, Lasho TL, Hanson CA, Mesa RA, Pardanani A, Tefferi A. The presence of JAK2V617F in primary myelofibrosis or its allele burden in polycythemia vera predicts chemosensitivity to hydroxyurea. Am J Hematol 2008;83:363-5.
12. Lippert E, Girodon F, Hammond E, Jelinek J, Reading NS, Fehse B, Hanlon K, Hermans M, Richard C, Swierczek S, Ugo V, Carillo S, Harrivel V, Marzac C, Pietra D, Sobas M, Mounier M, Migeon M, Ellard S, Kroger N, Herrmann R, Prchal JT, Skoda RC, Hermouet S. Concordance of assays designed for the quantification of JAK2V617F: a multicenter study. Haematologica 2009;94:38-45.
13. Bench AJ, White HE, Foroni L, Godfrey AL, Gerrard G, Akiki S, Awan A, Carter I, Goday-Fernandez A, Langabeer SE, Clench T, Clark J, Evans PA, Grimwade D, Schuh A, McMullin MF, Green AR, Harrison CN, Cross NC. Molecular diagnosis of the myeloproliferative neoplasms: UK guidelines for the detection of JAK2 V617F and other relevant mutations. Br J Haematol 2013;160:25-34.
14. Baker M. Digital PCR hits its stride. Nat Methods 2012;6:541-4.
15. Taly V, Pekin D, Benhaim L, Kotsopoulos SK, Le Corre D, Li X, Atochin I, Link DR, Griffiths AD, Pallier K, Blons H, Bouche O, Landi B, Hutchison JB, Laurent-Puig P. Multiplex picodroplet digital PCR to detect KRAS mutations in circulating DNA from the plasma of colorectal cancer patients. Clin Chem 2013;59:1722-31.
16. Nakano M, Komatsu J, Matsuura S, Takashima K, Katsura S, Mizuno A. Single-molecule PCR using water-in-oil emulsion. J Biotechnol 2003;102:117-24.
17. Azuara D, Ginesta MM, Gausachs M, Rodriguez-Moranta F, Fabregat J, Busquets J, Pelaez N, Boadas J, Galter S, Moreno V, Costa J, de Oca J, Capella G. Nanofluidic digital PCR for KRAS mutation detection and quantification in gastrointestinal cancer. Clin Chem 2012;58:1332-41.
18. Vogelstein B, Kinzler KW. Digital PCR. Proc Natl Acad Sci U S A 1999;96:9236-41.
19. Zhu Y, Fang Q. Analytical detection techniques for droplet microfluidics-a review. Anal Chim Acta 2013;787:24-35.
20. Muendlein A, Gasser K, Kinz E, Stark N, Leiherer A, Rein P, Saely CH, Grallert H, Peters A, Drexel H, Lang AH. Evaluation of the prevalence and prospective clinical impact of the JAK2 V617F mutation in coronary patients. Am J Hematol 2014;89:295-301.
21. Fazekas de St. Groth. The evaluation of limiting dilution assays. J Immunol Methods 1982;49:R11-23.
22. Hindson CM, Chevillet JR, Briggs HA, Gallichotte EN, Ruf IK, Hindson BJ, Vessella RL, Tewari M. Absolute quantification by droplet digital PCR versus analog real-time PCR. Nat Methods 2013;10:1003-5.
23. Jennings LJ, George D, Czech J, Yu M, Joseph L. Detection and quantification of BCR-ABL1 fusion transcripts by droplet digital PCR. J Mol Diagn 2014;16:174-9.
24. Sanders R, Mason DJ, Foy CA, Huggett JF. Evaluation of digital PCR for absolute RNA quantification. PLoS ONE 2013;8:e75296.
25. Belgrader P, Tanner SC, Regan JF, Koehler R, Hindson BJ, Brown AS. Droplet digital PCR measurement of HER2 copy number alteration in formalin-fixed paraffin-embedded breast carcinoma tissue. Clin Chem 2013;59:991-4.
26. Wang J, Ramakrishnan R, Tang Z, Fan W, Kluge A, Dowlati A, Jones RC, Ma PC. Quantifying EGFR alterations in the lung cancer genome with nanofluidic digital PCR arrays. Clin Chem 2010;56:623-32.
27. Antonioli E, Guglielmelli P, Poli G, Bogani C, Pancrazzi A, Longo G, Ponziani V, Tozzi L, Pieri L, Santini V, Bosi A, Vannucchi AM. Influence of JAK2V617F allele burden on phenotype in essential thrombocythemia. Haematologica 2008;93:41-8.
28. Vannucchi AM, Antonioli E, Guglielmelli P, Rambaldi A, Barosi G, Marchioli R, Marfisi RM, Finazzi G, Guerini V, Fabris F, Randi ML, De Stefano V, Caberlon S, Tafuri A, Ruggeri M, Specchia G, Liso V, Rossi E, Pogliani E, Gugliotta L, Bosi A, Barbui T. Clinical profile of homozygous JAK2 617V>F mutation in patients with polycythemia vera or essential thrombocythemia. Blood 2007;110:840-6.
29. Vannucchi AM, Antonioli E, Guglielmelli P, Longo G, Pancrazzi A, Ponziani V, Bogani C, Ferrini PR, Rambaldi A, Guerini V, Bosi A, Barbui T. Prospective identification of high-risk polycythemia vera patients based on JAK2(V617F) allele burden. Leukemia 2007;21:1952-9.
30. White HE, Hedges J, Bendit I, Branford S, Colomer D, Hochhaus A, Hughes T, Kamel-Reid S, Kim DW, Modur V, Muller MC, Pagnano KB, Pane F, Radich J, Cross NC, Labourier E. Establishment and validation of analytical reference panels for the standardization of quantitative BCR-ABL1 measurements on the international scale. Clin Chem 2013;59:938-48.
31. Huggett JF, Foy CA, Benes V, Emslie K, Garson JA, Haynes R, Hellemans J, Kubista M, Mueller RD, Nolan T, Pfaffl MW, Shipley GL, Vandesompele J, Wittwer CT, Bustin SA. The digital MIQE guidelines: minimum information for publication of quantitative digital PCR experiments. Clin Chem 2013;59:892-902.