Genetic heterogeneity of granulocytes for the JAK2 V617F mutation in essential thrombocythaemia: Implications for mutation detection in peripheral blood

Pathology

Volumn 38, Issue 4, 2006, Pages 336-342

  Stevenson, William S ^a,c   Hoyt, Rosemary ^b   Bell, Anthony ^b   Guipponi, Michel ^a   Juneja, Surender ^b   Grigg, Andrew P ^b   Curtis, David J ^b   Scott, Hamish S ^a   Szer, Jeff ^b   Alexander, Warren S ^a   Tuckfield, Annabel ^b   Roberts, Andrew W ^a,b  

^a WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^b ROYAL MELBOURNE HOSPITAL   (Australia)

^c ROYAL NORTH SHORE HOSPITAL   (Australia)

Author keywords

Essential thrombocythaemia; Myeloproliferative disorder; Thrombocytosis

Indexed keywords

DNA; JANUS KINASE 2;

ADULT; AGED; ALLELE; ARTICLE; BLOOD; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GRANULOCYTE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; THROMBOCYTHEMIA;

ADULT; AGED; AGED, 80 AND OVER; ALLELES; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC HETEROGENEITY; GRANULOCYTES; HUMANS; JANUS KINASE 2; MALE; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; PROTEIN-TYROSINE KINASES; PROTO-ONCOGENE PROTEINS; SENSITIVITY AND SPECIFICITY; THROMBOCYTHEMIA, HEMORRHAGIC;

EID: 33747603881     PISSN: 00313025     EISSN: 14653931     Source Type: Journal    
DOI: 10.1080/00313020600820906     Document Type: Article

References (15)

1. Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005; 365: 1054-61.
2. James C, Ugo V, Le Couedic JP, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005; 434: 1144-8.
3. 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: 387-97.
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: 1779-90.
5. Murphy S, Peterson P, Iland H, Laszlo J. Experience of the Polycythemia Vera Study Group with essential thrombocythemia: a final report on diagnostic criteria, survival, and leukemic transition by treatment. Semin Hematol 1997; 34: 29-39.
6. Jaffe E, Harris N, Stein H, Vardiman J. World Health Organization Classification of Tumours: Pathology and Genetics of Tumours of Haematopoietic and Lymphoid Tissues. Lyon: IARC Press, 2001.
7. Vardiman JW, Harris NL, Brunning RD. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood 2002; 100: 2292-302.
8. el-Kassar N, Hetet G, Briere J, Grandchamp B. Clonality analysis of hematopoiesis in essential thrombocythemia: advantages of studying T lymphocytes and platelets. Blood 1997; 89: 128-34.
9. Harrison CN, Gale RE, Machin SJ, Linch DC. A large proportion of patients with a diagnosis of essential thrombocythemia do not have a clonal disorder and may be at lower risk of thrombotic complications. Blood 1999; 93: 417-24.
10. Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 2001; 25: 402-8.
11. Steensma DP, Higgs DR, Fisher CA, Gibbons RJ. Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations. Blood 2004; 103: 2019-26.
12. McNamara C, Juneja S, Wolf M, Grigg A. Portal or hepatic vein thrombosis as the first presentation of a myeloproliferative disorder in patients with normal peripheral blood counts. Clin Lab Haematol 2002; 24: 239-42.
13. Antonioli E, Guglielmelli P, Pancrazzi A, et al. Clinical implications of the JAK2 V617F mutation in essential thrombocythemia. Leukemia 2005; 19: 1847-9.
14. Wolanskyj AP, Lasho TL, Schwager SM, et al. JAK2 mutation in essential thrombocythaemia: clinical associations and long-term prognostic relevance. Br J Haematol 2005; 131: 208-13.
15. Jones AV, Kreil S, Zoi K, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 2005; 106: 2162-8.