Rapid real-time PCR assay for detection of MPL W515L mutation in patients with chronic myeloproliferative disorders

International Journal of Laboratory Hematology

Volumn 32, Issue 1 PART.2, 2010, Pages 122-126

  Ghaderi, M ^a   StroMberg O ^a   Porwit, A ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

MPL; Mutation; Myeloproliferative; Polycythemia; Real time PCR

Indexed keywords

JANUS KINASE 2; THROMBOPOIETIN RECEPTOR;

ACCURACY; ADULT; AGED; ARTICLE; BLAST CELL; BLOOD CELL COUNT; BONE MARROW BIOPSY; CELL MATURATION; DISEASE COURSE; DYSPLASIA; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENOTYPE; HEPATOMEGALY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MEGAKARYOCYTE; MPL W515L GENE; MYELOPROLIFERATIVE DISORDER; POINT MUTATION; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RELIABILITY; SENSITIVITY ANALYSIS; SPLENOMEGALY;

HUMANS; JANUS KINASE 2; MUTATION; MYELOPROLIFERATIVE DISORDERS; POLYMERASE CHAIN REACTION; RECEPTORS, THROMBOPOIETIN; SENSITIVITY AND SPECIFICITY; SIGNAL TRANSDUCTION; TIME FACTORS;

EID: 77449133313     PISSN: 17515521     EISSN: 1751553X     Source Type: Journal    
DOI: 10.1111/j.1751-553X.2008.01118.x     Document Type: Article

References (10)

1. Beer P.A., Campbell P.J., Scott L.M., Bench A.J., Erber W.N., Bareford D., Wilkins B.S., Reilly J.T., Hasselbalch H.C., Bowman R., Wheatley K., Buck G., Harrison C.N. & Green A.R. (2008) MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort. Blood 112, 141-149.
2. Boissinot M., Lippert E., Girodon F., Dobo I., Fouassier M., Masliah C., Praloran V. & Hermouet S. (2006) Latent myeloproliferative disorder revealed by the JAK2-V617F mutation and endogenous megakaryocytic colonies in patients with splanchnic vein thrombosis. Blood 108, 3223-3224.
3. Bousquet M., Le Guellec S., Quelen C., Rigal-Huguet F., Delsol G. & Brousset P. (2006) Frequent detection of the JAK2 V617F mutation in bone marrow core biopsy specimens from chronic myeloproliferative disorders using the TaqMan polymerase chain reaction single nucleotide polymorphism genotyping assay: a retrospective study with pathologic correlations. Human Pathology 37, 1458-1464.
4. Guglielmelli P., Pancrazzi A., Bergamaschi G., Rosti V., Villani L., Antonioli E., Bosi A., Barosi G. & Vannucchi A.M. (2007) Anaemia characterises patients with myelofibrosis harbouring Mpl mutation. British Journal of Haematology 137, 244-247.
5. James C., Ugo V., Le Couedic J.P, Staerk J., Delhommeau F., Lacout C., Garcon L., Raslova H., Berger R., Bennaceur- Griscelli A., Villeval J.L., Constantinescu S.N., Casadevall N. & Vainchenker W. (2005) A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 434, 1144-1148. (Pubitemid 40663494)
6. Kroger N., Badbaran A., Holler E., Hahn J., Kobbe G., Bornhauser M., Reiter A., Zabelina T., Zander A.R. & Fehse B. (2007) Monitoring of the JAK2-V617F mutation by highly sensitive quantitative real-time PCR after allogeneic stem cell transplantation in patients with myelofibrosis. Blood 109, 1316-1321.
7. Levine R.L., Wadleigh M., Cools J., Ebert B.L., Wernig G., Huntly B.J., Boggon T.J., Wlodarska I., Clark J.J., Moore S., Adelsperger J., Koo S., Lee J.C., Gabriel S., Mercher T., D'Andrea A., Frohling S., Dohner K., Marynen P., Vandenberghe P., Mesa R.A., Tefferi A., Griffin J.D., Eck M.J., Sellers W.R., Meyerson M., Golub T.R., Lee S.J. & Gilliland D.G. (2005) Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 7, 387-397.
8. Livak K.J., Marmaro J. & Todd J.A. (1995) Towards fully automated genome-wide polymorphism screening. Nature Genetics 9, 341-342.
9. Pardanani A.D., Levine R.L., Lasho T., Pikman Y., Mesa R.A., Wadleigh M., Steensma D.P., Elliott M.A., Wolanskyj A.P., Hogan W.J., McClure R.F., Litzow M.R., Gilliland D.G. & Tefferi A. (2006) MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood 108, 3472-3476.
10. Pikman Y., Lee B.H., Mercher T., McDowell E., Ebert B.L., Gozo M., Cuker A., Wernig G., Moore S., Galinsky I., De- Angelo D.J., Clark J.J., Lee S.J., Golub T.R., Wadleigh M., Gilliland D.G. & Levine R.L. (2006) MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Medicine 3, e270.