A novel JAK2 exon 12 mutation identified in the retrospective analysis of paraffin-embedded tissues of polycythemia vera patients

Diagnostic Molecular Pathology

Volumn 18, Issue 2, 2009, Pages 108-111

  Burjanivova, Tatiana ^a   Marcinek, Juraj ^a   Lasabova, Zora ^b   Minarik, Gabriel ^c   Szepe, Peter ^a   Balharek, Tomas ^a   Vanochova, Andrea ^b   Polacek, Hubert ^a   Plank, Lukas ^a  

^a FACULTY HOSPITAL   (Slovakia)

^b University Hospital in Martin   (Slovakia)

^c Faculty of Natural Sciences   (Slovakia)

Author keywords

JAK2 exon 12 mutations; Paraffin embedded tissues; Polycythemia vera

Indexed keywords

JANUS KINASE 2; JAK2 PROTEIN, HUMAN; PARAFFIN;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CHILD; DIAGNOSTIC VALUE; DNA SEQUENCE; ERYTHROPOIESIS; FEMALE; GENE EXPRESSION; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MEGAKARYOCYTE; POLYCYTHEMIA VERA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; AMINO ACID SEQUENCE; EXON; GENETICS; INDEL MUTATION; MIDDLE AGED; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; TISSUE FIXATION;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; EXONS; FEMALE; HUMANS; INDEL MUTATION; JANUS KINASE 2; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PARAFFIN EMBEDDING; POLYCYTHEMIA VERA; SEQUENCE ANALYSIS, DNA; TISSUE FIXATION; YOUNG ADULT;

EID: 67649982967     PISSN: 10529551     EISSN: None     Source Type: Journal    
DOI: 10.1097/PDM.0b013e318190eed0     Document Type: Article

References (14)

1. Jones AV, Kreil S, Zoi K, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood. 2005; 106:2162-2168. (Pubitemid 41291734)
2. Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365:1054-1061. (Pubitemid 40386783)
3. James C, Ugo V, Le Couedic JP, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005;434:1144-1148. (Pubitemid 40663494)
4. Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005;352:1779-1790. (Pubitemid 40570926)
5. Levine RL, Wadleigh M, Cools J, 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. (Pubitemid 40544655)
6. Scott LM, Tong W, Levine RL, et al. JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med. 2007;356:459-468. (Pubitemid 46193073)
7. Cazzola M. Somatic mutations of JAK2 exon 12 as a molecular basis of erythrocytosis. Haematologica. 2007;92:1585-1589. (Pubitemid 350248235)
8. Levine RL, Pardanani A, Tefferi A, et al. Role of JAK2 in the pathogenesis and therapy of myeloproliferative disorders. Nat Rev Cancer. 2007;7:673-683. (Pubitemid 47327415)
9. Tefferi A, Thiele J, Orazi A, et al. Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert panel. Blood. 2007;110:1092-1097. (Pubitemid 47281402)
10. Horn T, Kremer M, Dechow T, et al. Detection of the activating JAK2 V617F mutation in paraffin-embedded trephine bone marrow biopsies of patients with chronic myeloproliferative diseases. J Mol Diagn. 2006;8:299-304. (Pubitemid 44063805)
11. Percy MJ, Scott LM, Erber WN, et al. The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels. Haematologica. 2007;92:1607-1614.
12. Butcher CM, Hahn U, To LB, et al. Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients. Leukemia. 2008;22:870-873. (Pubitemid 351552644)
13. Gattenlohner S, Peter C, Bonengel M, et al. Detecting the JAK2 V617F mutation in fresh and "historic" blood and bone marrow. Leukemia. 2007;21:1599-1602. (Pubitemid 46969872)
14. Li S, Kralovics R, De Libero G, et al. Clonal heterogeneity in polycythemia vera patients with JAK2 exon12 and JAK2-V617F mutations. Blood. 2008;111:3863-3866.