JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis

New England Journal of Medicine

Volumn 356, Issue 5, 2007, Pages 459-468

  Scott, Linda M ^a   Tong, Wei ^c   Levine, Ross L ^e   Scott, Mike A ^b   Beer, Philip A ^a   Stratton, Michael R ^g   Futreal, P Andrew ^g   Erber, Wendy N ^b   McMullin, Mary Frances ^h   Harrison, Claire N ⁱ   Warren, Alan J ^a,b   Gilliland, D Gary ^e,f   Lodish, Harvey F ^c,d   Green, Anthony R ^a,b,j  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^c WHITEHEAD INSTITUTE FOR BIOMEDICAL RESEARCH   (United States)

^d MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^e BRIGHAM AND WOMEN S HOSPITAL   (United States)

^f HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^g WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^h QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

ⁱ ST THOMAS HOSPITAL   (United Kingdom)

^j UNIVERSITY OF CAMBRIDGE   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ERYTHROPOIETIN; ERYTHROPOIETIN RECEPTOR; INTERLEUKIN 3; JANUS KINASE 2; LEUCINE; LYSINE; MITOGEN ACTIVATED PROTEIN KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE 3; STAT PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BLOOD SAMPLING; BONE MARROW; BONE MARROW TRANSPLANTATION; CONTROLLED STUDY; ENZYME PHOSPHORYLATION; ERYTHROCYTOSIS; EXON; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MOUSE; MULTIGENE FAMILY; NONHUMAN; PHENOTYPE; POLYCYTHEMIA VERA; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN EXPRESSION; WILD TYPE;

EID: 33846660947     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa065202     Document Type: Article

References (33)

1. Dameshek W. Some speculations on the myeloproliferative syndromes. Blood 1951;6:372-5.
2. Adamson JW, Fialkow PJ, Murphy S, Prchal JF, Steinmann L. Polycythemia vera: stem-cell and probable clonal origin of the disease. N Engl J Med 1976;295:913-6.
3. James C, Ugo V, Le Couedic JP, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005;434:1144-8.
4. Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005;365:1054-61. [Erratum, Lancet 2005;366:122.]
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;7:387-97.
6. 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.
7. Zhao R, Xing S, Li Z, et al. Identification of an acquired JAK2 mutation in polycythemia vera. J Biol Chem 2005;280:22788-92.
8. Wernig G, Mercher T, Okabe R, Levine RL, Lee BH, Gilliland DG. Expression of Jak2V617F causes a polycythemia vera-like disease with associated myelofibrosis in a murine bone marrow transplant model. Blood 2006;107:4274-81.
9. Lacout C, Pisani DF, Tulliez M, Moreau Gachelin F, Vainchenker W, Villeval JL. JAK2V617F expression in murine hematopoietic cells leads to MPD mimicking human PV with secondary myelofibrosis. Blood 2006;108:1652-60.
10. Levine RL, Belisle C, Wadleigh M, et al. X-inactivation-based clonality analysis and quantitative JAK2V617F assessment reveal a strong association between clonality and JAK2V617F in PV but not ET/MMM, and identifies a subset of JAK2V617F-negative ET and MMM patients with clonal hematopoiesis. Blood 2006;107:4139-41.
11. 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.
12. Scott LM, Scott MA, Campbell PJ, Green AR. Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia. Blood 2006;108:2435-7.
13. Jamieson CH, Gotlib J, Durocher JA, et al. The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation. Proc Natl Acad Sci U S A 2006;103:6224-9.
14. Scott LM, Campbell PJ, Baxter EJ, et al. The V617F JAK2 mutation is uncommon in cancers and in myeloid malignancies other than the classic myeloproliferative disorders. Blood 2005;106:2920-1.
15. Levine RL, Loriaux M, Huntly BJ, et al. The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia. Blood 2005;106:3377-9.
16. Steensma DP, Dewald GW, Lasho TL, et al. The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes. Blood 2005;106:1207-9.
17. Jones AV, Kreil S, Zoi K, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 2005;106:2162-8.
18. Jelinek J, Oki Y, Gharibyan V, et al. JAK2 mutation 1849G→T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia. Blood 2005;106:3370-3.
19. Antonioli E, Guglielmelli P, Pancrazzi A, et al. Clinical implications of the JAK2 V617F mutation in essential thrombocythemia. Leukemia 2005;19:1847-9.
20. Campbell PJ, Scott LM, Buck G, et al. Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. Lancet 2005;366:1945-53.
21. Campbell PJ, Griesshammer M, Dohner K, et al. V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis. Blood 2005;107:2098-100.
22. Pikman Y, Lee BH, Mercher T, et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med 2006;3:1140-51.
23. Pardanani A, Levine R, Lasho T, et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood 2006;108:3472-6.
24. Pearson TC. Evaluation of diagnostic criteria in polycythemia vera. Semin Hematol 2001;38:Suppl 2:21-4.
25. 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.
26. Barosi G, Ambrosetti A, Finelli C, et al. The Italian Consensus Conference on diagnostic criteria for myelofibrosis with myeloid metaplasia. Br J Haematol 1999;104:730-7.
27. D'Andrea AD, Yoshimura A, Yousssoufian H, Zon L, Koo J, Lodish HF. The cytoplasmic region of the erythropoietin receptor contains nonoverlapping positive and negative growth regulatory domains. Mol Cell Biol 1991;11:1980-7.
28. Schwaller J, Frantsve J, Aster J, et al. Transformation of hematopoietic cell lines to growth-factor independence and induction of a fatal myelo- and lymphoproliferative disease in mice by retrovirally transduced TEL/JAK2 fusion genes. EMBO J 1998;17:5321-33.
29. Kralovics R, Teo SS, Li S, et al. Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders. Blood 2006;108:1377-80.
30. Prchal JF, Axelrad AA. Bone-marrow responses in polycythemia vera. N Engl J Med 1974;290:1382.
31. Campbell PJ, Green AR. The myeloproliferative disorders. N Engl J Med 2006;355:2452-66.
32. Lucet IS, Fantino E, Styles M, et al. The structural basis of Janus kinase 2 inhibition by a potent and specific pan-Janus kinase inhibitor. Blood 2006;107:176-83.
33. Giordanetto F, Kroemer RT. Prediction of the structure of human Janus kinase 2 (JAK2) comprising JAK homology domains 1 through 7. Protein Eng 2002;15:727-37.