JAK2 V617F, MPL W515L and JAK2 exon 12 mutations in Chinese patients with primary myelofibrosis

Chinese Journal of Cancer Research

Volumn 24, Issue 1, 2012, Pages 72-76

  Xia, Jun ^a   Lu, Mi Ze ^a   Jiang, Yuan Qiang ^a   Yang, Guo Hua ^a   Zhuang, Yun ^a   Sun, Hong Li ^a   Shen, Yun Feng ^a  

^a NANJING MEDICAL UNIVERSITY   (China)

Author keywords

JAK2 exon 12; JAK2 V617F; MPL W515L; Mutation; Primary myelofibrosis

Indexed keywords

JANUS KINASE 2; STAT PROTEIN;

ADULT; AGED; ALLELE; ARTICLE; CANCER PATIENT; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; HUMAN; JAK2 GENE; MALE; MOLECULAR PATHOLOGY; MYELOID METAPLASIA; MYELOPROLIFERATIVE DISORDER; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION;

EID: 84863688974     PISSN: 10009604     EISSN: 19930631     Source Type: Journal    
DOI: 10.1007/s11670-012-0072-4     Document Type: Article

References (24)

1. Dameshek W. Some speculations on the myeloproliferative syndromes. Blood 1951; 6:372-5.
2. 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[J]. Cancer Cell 2005; 7:387-97. (Pubitemid 40544655)
3. Jones AV, Kreil S, Zoi K, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 2005; 106:2162-8. (Pubitemid 41291734)
4. James C, Ugo V, Le Couédic JP, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005; 434:1144-8. (Pubitemid 40663494)
5. Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005; 365:1054-61. (Pubitemid 40386783)
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. (Pubitemid 40570926)
7. 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. (Pubitemid 43726824)
8. Lippert E, Boissinot M, Kralovics R, et al. The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera. Blood 2006; 108:1865-7. (Pubitemid 44394995)
9. Nelson ME, Steensma DP. JAK2 V617F in myeloid disorders: what do we know now, and where are we headed? Leuk Lymphoma 2006; 47: 177-94. (Pubitemid 43084557)
10. McClure R, Mai M, Lasho T. Validation of two clinically useful assays for evaluation of JAK2 V617F mutation in chronic myeloproliferative disorders. Leukemia 2006; 20:168-71.
11. 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. (Pubitemid 41129580)
12. 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. (Pubitemid 41609169)
13. Beer PA, Campbell PJ, Scott LM, et al. MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort. Blood 2008; 112:141-9.
14. Pikman Y, Lee BH, Mercher T, et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PloS Med 2006; 3:e270.
15. Pardanani AD, Levine RL, Lasho T, et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood 2006; 108:3472-6.
16. Chaligné R, Tonetti C, Besancenot R, et al. New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition. Leukemia 2008; 22:1557-66.
17. Scott LM, Tong W, Levine RL, et al. JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med 2007; 356:459-68. (Pubitemid 46193073)
18. Pardanani A, Lasho TL, Finke C, et al. Prevalence and clinicopathologic correlates of JAK2 exon 12 mutations in JAK2V617F negative polycythemia vera. Leukemia 2007; 21:1960-3. (Pubitemid 47299970)
19. Martínez-Avilés L, Besses C, Alvarez-Larrán A, et al. JAK2 exon 12 mutations in polycythemia vera or idiopathic erythrocytosis. Haematologica 2007; 92:1717-8. (Pubitemid 350248259)
20. Butcher CM, Hahn U, To LB, et al. Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients. Leukemia 2008; 22:870-3. (Pubitemid 351552644)
21. Vardiman JW, Brunning RD, Harris NL. WHO histological classification of chronic myeloproliferative diseases. In: Jaffe ES, Harris NL, Stein H, Vardiman JW, eds. World Health Organization Classification of Tumors: Tumours of the Haematopoietic and Lymphoid Tissues. Lyon, France: International Agency for Research on Cancer (IARC) Press; 2001:17-44.
22. Zhang SJ, Li JY, Li WD, et al. The investigation of JAK2 mutation in Chinese myeloproliferative diseases-identification of a novel C616Y point mutation in a PV patient. Int J Lab Hematol 2007; 29:71-2.
23. Xu W, Li JY, Xia J, et al. MPL W515L mutation in Chinese patients with myeloproliferative diseases. Leuk Lymphoma 2008, 49:955-8. (Pubitemid 351942750)
24. Vardiman JW, Harris NL, Brunning RD. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood 2002; 100:2292-302.