MPL mutation profile in JAK2 mutation-negative patients with myeloproliferative disorders

Diagnostic Molecular Pathology

Volumn 20, Issue 1, 2011, Pages 34-39

  Ma, Wanlong ^a   Zhang, Xi ^a   Wang, Xiuqiang ^a   Zhang, Zhong ^a   Yeh, Chen Hsiung ^a   Uyeji, Jennifer ^a   Albitar, Maher ^a  

^a QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

Author keywords

diagnosis; inherited; JAK2; MPD; MPL; mutation; myeloproliferative neoplasm; polymorphism; RT PCR; somatic

Indexed keywords

JANUS KINASE 2;

ARTICLE; EXON; GENE; GENE MUTATION; HUMAN; INDEL MUTATION; MAJOR CLINICAL STUDY; MPL GENE; MUTATIONAL ANALYSIS; MYELOPROLIFERATIVE DISORDER; NUCLEOTIDE SEQUENCE; PREVALENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS;

GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; JANUS KINASE 2; LEUKEMIA, MYELOID; MYELOPROLIFERATIVE DISORDERS; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, THROMBOPOIETIN;

EID: 79952140717     PISSN: 10529551     EISSN: None     Source Type: Journal    
DOI: 10.1097/PDM.0b013e3181ecd261     Document Type: Article

References (18)

1. Panani AD. Cytogenetic and molecular aspects of Philadelphia negative chronic myeloproliferative disorders: clinical implications. Cancer Lett. 2007;255:12-25. (Pubitemid 47225135)
2. Baxter EJ, Scott LM, Campbell PJ, et al. Cancer genome project: acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365:1054-1061. (Pubitemid 40386783)
3. Passamonti F, Rumi E, Pietra D, et al. Relation between JAK2 (V617F) mutation status, granulocyte activation and constitutive mobilization of CD34+ cells into peripheral blood in myeloproliferative disorders. Blood. 2006;107:3676-3682.
4. 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: 1865-1867. (Pubitemid 44394995)
5. Tefferi A, Lasho TL, Schwager SM, et al. The clinical phenotype of wild-type, heterozygous, and homozygous JAK2V617F in polycythemia vera. Cancer. 2006;106:631-635. (Pubitemid 43157627)
6. Scott LM, Tong W, Levine RL, et al. JAK2 exon 12 mutation mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med. 2007;356:459-468. (Pubitemid 46193073)
7. Scott LM, Beer PA, Bench AJ, et al. Prevalence of JAK2 V617F and exon 12 mutations in polycythaemia vera. Br J Haematol. 2007; 139:511-512. (Pubitemid 47512179)
8. Ma W, Kantarjian H, Zhang X, et al. Mutation profile of JAK2 transcripts in patients with chronic myeloproliferative neoplasias. J Mol Diagn. 2009;11:49-53.
9. Pietra D, Li S, Brisci A, et al. Somatic mutations of JAK2 exon 12 in patients with JAK2(V617F)-negative myeloproliferative disorders. Blood. 2008;111:1686-1689. (Pubitemid 351213460)
10. Ding J, Komatsu H, Wakita A, et al. Familial essential thrombocythemia associated with a dominant-positive activation mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin. Blood. 2004;103:4198-4200. (Pubitemid 38685363)
11. Teofili L, Giona F, Martini M, et al. Markers of myeloproliferative diseases in childhood polycythemia vera and essential thrombocythemia. J Clin Oncol. 2007;25:1048-1053. (Pubitemid 46596755)
12. Pikman Y, Lee BH, Mercher T, et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med. 2006;3:1140-1151. (Pubitemid 44125998)
13. Pancrazzi A, Guglielmelli P, Ponziani V, et al. A sensitive detection method for MPLW515L or MPLW515K mutation in chronic myeloproliferative disorders with lockednucleic acid modified probes and real-time polymerase chain reaction. J Mol Diagn. 2008; 10:435-441.
14. Beer PA, Campbell PJ, Scott LM, et al. MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort. Blood. 2008;112:141-149.
15. Kilpivaara O, Levine RL. JAK2 and MPL mutations in myeloproliferative neoplasms: discovery and science. Leukemia. 2008;22: 1813-1817.
16. Siemia̧tkowska A, Bieniaszewska M, Hellmann A, et al. JAK2 and MPL gene mutations in V617F-negative myeloproliferative neoplasms. Leuk Res. 2009. [Epub ahead of print].
17. Bench AJ, Pahl HL. Chromosomal abnormalities and molecular markers in myeloproliferative disorders. Semin Hematol. 2005;42: 196-205. (Pubitemid 41400661)
18. Williams DM, Kim AH, Rogers O, et al. Phenotypic variations and new mutations in JAK2 V617F-negative polycythemia vera, erythrocytosis, and idiopathic myelofibrosis. Exp Hematol. 2007;35: 1641-1646. (Pubitemid 47633772)