Interlaboratory development and validation of a HRM method applied to the detection of JAK2 exon 12 mutations in polycythemia vera patients

PLoS ONE

Volumn 5, Issue 1, 2010, Pages

  Ugo, Valerie ^a,d   Tondeur, Sylvie ^b   Menot, Marie Laurence ^c   Bonnin, Nadine ^c   Le Gac, Gerald ^d   Tonetti, Carole ^e   Mansat De Mas, Veronique ^a   Lecucq, Lydie ^a   Kiladjian, Jean Jacques ^c,g   Chomienne, Christine ^c   Dosquet, Christine ^c   Parquet, Nathalie ^c   Darnige, Luc ^h   Porneuf, Marc ⁱ   Escoffre Barbe, Martine ^j   Giraudier, Stephane ^e   Delabesse, Eric ^f   Cassinat, Bruno ^c  

^a BREST UNIVERSITY HOSPITAL   (France)

^b HÔPITAL SAINT ELOI   (France)

^c SAINT LOUIS HOSPITAL   (France)

^d INSERM   (France)

^e HENRI MONDOR HOSPITAL   (France)

^f CHU PURPAN   (France)

^g AVICENNE HOSPITAL   (France)

^h HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

ⁱ Hopital Y Le Foll   (France)

^j PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

JANUS KINASE 2; PRIMER DNA;

ADULT; AGED; ARTICLE; BLOOD SAMPLING; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; DNA EXTRACTION; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GRANULOCYTE; HUMAN; MALE; POLYCYTHEMIA VERA; PURIFICATION; VALIDATION PROCESS; GENETICS; LABORATORY; MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; STANDARD; VALIDATION STUDY;

BASE SEQUENCE; DNA PRIMERS; EXONS; HUMANS; JANUS KINASE 2; LABORATORIES; MUTATION; POLYCYTHEMIA VERA; POLYMERASE CHAIN REACTION;

EID: 77749245998     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0008893     Document Type: Article

References (24)

1. James C, Ugo V, Le Couédic JP, Staerk J, Delhommeau F, et al. (2005) A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 434: 1144-1148.
2. Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, et al. (2005) Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 365: 1054-1061.
3. Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, et al. (2005) A gain-of-function mutation of JAK2 in myeloproliferative disorders. New Engl J Med 352: 1779-1790.
4. Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, et al. (2005) Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 7: 387-397.
5. Tefferi A, Vardiman JW (2008) Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia 22: 14-22.
6. Campbell PJ, Green AR (2006) The myeloproliferative disorders. New Engl J Med 355: 2452-2466.
7. Scott LM, Tong W, Levine RL, Scott MA, Beer PA, et al. (2007) JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. New Engl J Med 356: 459-468.
8. Kiladjian JJ, Cervantes F, Leebeek FW, Marzac C, Cassinat B, et al. (2008) The impact of JAK2 and MPL mutations on diagnosis and prognosis of splanchnic vein thrombosis: a report on 241 cases. Blood 111: 4922-4929.
9. Steensma DP, Dewald GW, Lasho TL, Powell HL, McClure RF, 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.
10. Pietra D, Li S, Brisci A, Passamonti F, Rumi E, et al. (2008) Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders. Blood 111: 1686-1689.
11. Kouroupi E, Zoi K, Parquet N, Zoi C, Kiladjian JJ, et al. (2008) Mutations in exon 12 of JAK2 are mainly found in JAK2 V617F-negative polycythaemia vera patients. Brit J Haematol 142: 676-679.
12. Ririe KM, Rasmussen RP, Wittwer CT (1997) Product differentiation by analysis of DNA melting curves during the polymerase chain reaction. Anal Biochem 245: 154-160.
13. Cheng JC, Huang CL, Lin CC, Chen CC, Chang YC, et al. (2006) Rapid detection and identification of clinically important bacteria by high-resolution melting analysis after broad-range ribosomal RNA real-time PCR. Clin Chem 52: 1997-2004.
14. Lin JH, Tseng CP, Chen YJ, Lin CY, Chang SS, et al. (2008) Rapid differentiation of influenza A virus subtypes and genetic screening for virus variants by high-resolution melting analysis. J Clin Microbiol 46: 1090-1097.
15. Seipp MT, Pattison D, Durtschi JD, Jama M, Voelkerding KV, et al. (2008) Quadruplex genotyping of F5, F2, and MTHFR variants in a single closed tube by high-resolution amplicon melting. Clin Chem 54: 108-115.
16. Pichler M, Balic M, Stadelmeyer E, Ausch C, Wild M, et al. (2009) Evaluation of high-resolution melting analysis as a diagnostic tool to detect the BRAF V600E mutation in colorectal tumors. J Mol Diag 11: 140-147.
17. Holden JA, Willmore-Payne C, Coppola D, Garrett CR, Layfield LJ (2007) High-resolution melting amplicon analysis as a method to detect c-kit and platelet-derived growth factor receptor alpha activating mutations in gastrointestinal stromal tumors. Am J Clin Pathol 128: 230-238.
18. Herrmann MG, Durtschi JD, Bromley LK, Wittwer CT, Voelkerding KV (2006) Amplicon DNA melting analysis for mutation scanning and genotyping: cross-platform comparison of instruments and dyes. Clin Chem 52: 494-503.
19. Herrmann MG, Durtschi JD, Wittwer CT, Voelkerding KV (2007) Expanded instrument comparison of amplicon DNA melting analysis for mutation scanning and genotyping. Clin Chem 53: 1544-1548.
20. Lasho TL, Tefferi A, Hood JD, Verstovsek S, Gilliland DG, et al. (2008) TG101348, a JAK2-selective antagonist, inhibits primary hematopoietic cells derived from myeloproliferative disorder patients with JAK2V617F, MPLW515K or JAK2 exon 12 mutations as well as mutation negative patients. Leukemia 22: 1790-1792.
21. Jones AV, Cross NC, White HE, Green AR, Scott LM (2008) Rapid identification of JAK2 exon 12 mutations using high resolution melting analysis. Haematologica 93: 1560-1564.
22. Rapado I, Grande S, Albizua E, Ayala R, Hernández JA, et al. (2009) High resolution melting analysis for JAK2 Exon 14 and Exon 12 mutations: a diagnostic tool for myeloproliferative neoplasms. J Mol Diag 11: 155-161.
23. Delhommeau F, Dupont S, Tonetti C, Massé A, Godin I, et al. (2007) Evidence that the JAK2 G1849T (V617F) mutation occurs in a lymphomyeloid progenitor in polycythemia vera and idiopathic myelofibrosis. Blood 109: 71-77.
24. Li S, Kralovics R, De Libero G, Theocharides A, Gisslinger H, et al. (2008) Clonal heterogeneity in polycythemia vera patients with JAK2 exon12 and JAK2-V617F mutations. Blood 111: 3863-3866.