JAK2 V617F mutation and PRV-1 overexpression: Relevance in the diagnosis of polycythaemia vera and essential thrombocythaemia

Acta Clinica Belgica

Volumn 64, Issue 5, 2009, Pages 429-433

  Melis, S ^a   Vellinga, S ^a   Zachee P ^a   Sierens, A C ^a   De Schouwer, P J J C ^a  

^a Laboratorium Hematologie en Moleculaire Biologie   (Belgium)

Author keywords

Essential thrombocythaemia; JAK2 V617F mutation; Polycythaemia vera; PRV 1 overexpression

Indexed keywords

BCR ABL PROTEIN; ERYTHROPOIETIN; JANUS KINASE 2; MESSENGER RNA; ALLOANTIGEN; BIOLOGICAL MARKER; CD177 PROTEIN, HUMAN; CELL SURFACE RECEPTOR; JAK2 PROTEIN, HUMAN; MEMBRANE PROTEIN;

ARTICLE; BONE MARROW BIOPSY; CLINICAL FEATURE; ERYTHROCYTOSIS; GENE; GENE MUTATION; GENE OVEREXPRESSION; HUMAN; LEUKOCYTOSIS; MYELODYSPLASTIC SYNDROME; MYELOFIBROSIS; NUCLEOTIDE SEQUENCE; PHILADELPHIA 1 CHROMOSOME; POLYCYTHEMIA RUBRA VERA 1 GENE; POLYCYTHEMIA VERA; PREVALENCE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPLENOMEGALY; THROMBOCYTOSIS; THROMBOTIC THROMBOCYTOPENIC PURPURA; GENE EXPRESSION REGULATION; GENETICS; METABOLISM; MUTATION; NEUTROPHIL; PHYSIOLOGY; SENSITIVITY AND SPECIFICITY; THROMBOCYTHEMIA; WORLD HEALTH ORGANIZATION;

BIOLOGICAL MARKERS; GENE EXPRESSION REGULATION; ISOANTIGENS; JANUS KINASE 2; MEMBRANE GLYCOPROTEINS; MUTATION; NEUTROPHILS; POLYCYTHEMIA VERA; RECEPTORS, CELL SURFACE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; THROMBOCYTHEMIA, ESSENTIAL; WORLD HEALTH ORGANIZATION;

EID: 77449092461     PISSN: 00015512     EISSN: None     Source Type: Journal    
DOI: 10.1179/acb.2009.070     Document Type: Article

References (21)

1. Chronic myeloproliferative diseases In: Jaffe ES, Harris NL, Stein H, Vardiman LW, eds. WHO Classification of Tumours: Pathology and genetics of tumours of the Hematopoietic and Lymphoid Tissues. IARC Press Lyon 2001: p15-44.
2. Nowell PC, Hungerford DA. A minutre chromosome in human chronic granulocytic leukemia. Science 1960; 132: 1497-1500.
3. Temerinac S, Klippel S, Strunck E, et al. Cloning of PRV-1, a novel member of the uPAR receptor superfamily, which is overexpressed in polycythemia rubra vera. Blood 2000; 95: 2569-2576.
4. Liu E, Jelinek J, Pastore YD, Guan Y, Prchal JF, Prchal JT. Discrimination of polycythemias and thrombocytoses by novel, simple accurate clonality assays and comparison with PRV-1 expression and BFU-E response to erythropoietin. Blood 2003; 101: 3294-3301.
5. Kralovics R, Buser AS, Teo SS, et al. Comparison of molecular markers in a cohort of patients with chronic myeloproliferative disorders. Blood 2003; 102: 1869-1871.
6. Klippel S, Strunck E, Temerinac S, et al. Quantification of PRV-1 mRNA distinguishes polycythemia vera from secondary erythrocytosis. Blood 2003; 102: 3569-3574.
7. Tefferi A, Lasho TL, Wolanskyj AP, Mesas RA. Neutrophil PRV-1 expression across the chronic myeloproliferative disorders and in secondary or spurious polycythemia, Blood 2004; 103:3547-3548.
8. Florensa L, Besses C, Zamora L, et al., Endogenous erythroid and megakaryocyte circulating progenitors, HUMARA clonality assay, and PRV-1 expression are useful tools for diagnosis of polycythemia vera and essential thrombocythemia. Blood 2004; 103: 2427-28.
9. Teofili L, Martini M, Luongo L et al., Overexpression of the polycythemia rubra vera-1 gene in essential thrombocytemia. J Clin Oncol 2002; 20: 4249-4254.
10. Sirhan S, Lasho TL, Elliot MA, Tefferi A, Neutrophil polycythemia rubra vera-1 expression in classic and atypical myeloproliferative disorders and laboratory correlates. Haematologica 2005; 90: 406-408.
11. Passamonti F, Pietra D, Malabarbra L et al., Clinical significance of neutrophil CD177 mRNA expression in Ph-negative chronic myeloproliferative disorders. Br J Haematol 2004; 126: 650-6.
12. Tefferi A, Sirhan S, Lasho TL et al., Concomitant neutrophil JAK2 V617F mutation screening and PRV-1 expression analysis in myeloproliferative disorders and secondary polycythaemia, Br J Haematol 2005; 131: 166-171.
13. Baxter EJ, Scott LM, Camplbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005; 365: 1054-1061.
14. 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.
15. Kralovics R, Passamonti F, Buser AS, et al. A gain of function mutation in JAK2 is frequently found in patients with myeloproliferative disorders. N Eng J Med 2005; 352: 1779-1790.
16. Levine RL, Wadleigh M, Cools J, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocytemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 2005; 7: 387-397.
17. Zhao R, Xing S, Li Z, et al., Identification of an acquired JAK2 mutation in polycythemia vera. J Biol Chem 2005;280: 22788-22792.
18. Jones AV, Kreil S, Zoi K, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 2005; 15: 2162-2168.
19. Tefferi A, Sirhan S, Lasho TL, et al. Concomitant neutrophil JAK2V617F mutation screening and PRV-1 expression analysis in myeloproliferative disorders and secondary polycythemia. Br J Haematol 2005;13: 166-171.
20. Wolanskyj AP, Schwager SM, McClure RF, et al. JAK2V617F-mutation in essential thromocythaemia; clinical associations and long-term prognostic relevance. Br J Haematol 2005;131: 208-213.
21. Tefferi A, Vardiman JW. Classification and diagnosis of myeloproliferative neoplasms: The World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia 2008;22;14-22.