Clonal analyses define the relationships between chromosomal abnormalities and JAK2V617F in patients with Ph-negative myeloproliferative neoplasms*

Experimental Hematology

Volumn 37, Issue 10, 2009, Pages 1194-1200

  Wang, Xiaoli ^a,b   LeBlanc, Amanda ^a,b   Gruenstein, Steven ^a,b   Xu, Mingjiang ^a,b   Mascarenhas, John ^a,b   Panzera, Brenda ^a,b   Wisch, Nathaniel ^a,b   Parker, Charles ^c,d   Goldberg, Judith D ^d,e   Prchal, Josef ^c,d   Hoffman, Ronald ^a,b,d   Najfeld, Vesna ^a,b,d  

^a Tisch Cancer Institute   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^d Myeloproliferative Disorder Research Consortium   (United States)

^e NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CD34 ANTIGEN; JANUS KINASE 2; PHENYLALANINE; VALINE;

ADULT; AGED; ARTICLE; CHROMOSOME 8; CHROMOSOME 9; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CYTOGENETICS; DISEASE COURSE; FEMALE; GENE SEQUENCE; GENETIC ASSOCIATION; GENOTYPE; HEMATOPOIETIC STEM CELL; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; MALE; MOLECULAR CLONING; MYELOPROLIFERATIVE DISORDER; PHILADELPHIA CHROMOSOME NEGATIVE CELL; PRIORITY JOURNAL; WILD TYPE;

AGED; CHROMOSOME ABERRATIONS; CLONE CELLS; DISEASE PROGRESSION; FEMALE; GENOTYPE; HUMANS; JANUS KINASE 2; KARYOTYPING; MALE; MIDDLE AGED; MUTATION, MISSENSE; POINT MUTATION; POLYCYTHEMIA VERA; PRIMARY MYELOFIBROSIS; RECEPTORS, THROMBOPOIETIN; THROMBOCYTHEMIA, ESSENTIAL;

EID: 70249085509     PISSN: 0301472X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.exphem.2009.07.003     Document Type: Article

References (23)

1. Adamson J.W., Fialkow P.J., Murphy S., Prchal J.F., and Steinmann L. Polycythemia vera: stem-cell and probable clonal origin of the disease. N Engl J Med 295 (1976) 913-916
2. Asimakopolous F.A., Holloway T.L., Nacheva E.P., et al. Detection of chromosome 20q deletions in bone marrow metaphases but not peripheral blood granulocytes in patients with myeloproliferative disorders or myelodysplastic syndromes. Blood 97 (1996) 1561-1570
3. James C., Ugo V., Le Couedic J.P., et al. A unique clonal JAK2 mutation leading to constitutive signaling causes polycythaemia vera. Nature 434 (2005) 1144-1148
4. Baxter E.J., Scott L.M., Campbell P.J., et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 365 (2005) 1054-1061
5. Levine R.L., 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 7 (2005) 387-397
6. Kralovics R., Passamonti F., Buser A.S., et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 352 (2005) 1779-1790
7. Ishii T., Bruno E., Hoffman R., and Xu M. Involvement of various hematopoietic-cell lineages by the JAK2V617F mutation in polycythemia vera. Blood 108 (2006) 3128-3134
8. Campbell P.J., and Green A.R. The myeloproliferative disorders. N Engl J Med 355 (2006) 2452-2466
9. Levine R.L., Pardanani A., Tefferi A., and Gilliland D.G. Role of JAK2 in the pathogenesis and therapy of myeloproliferative disorders. Nat Rev 7 (2007) 673-683
10. Kralovics R., Teo S.S., 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 108 (2006) 1377-1380
11. V617F mutation. Exp Hematol 35 (2007) 32-38
12. Beer P.A., Jones A.V., Bench A.J., et al. Clonal diversity in the myeloproliferative neoplasams: independent origins of genetically distinct clones. Br J Haematol 144 (2009) 904-908
13. Andrieux J., and Demory J.L. Karyotype and molecular cytogenetic studies in polycythemia vera. Curr Hematol 4 (2005) 224-229
14. Reilly J.T. Cytogenetic and molecular genetic abnormalities in agnogenic myeloid metaplasia. Semin Oncol 32 (2005) 359-364
15. Najfeld V. Conventional and molecular cytogenetics of Ph-negative chronic myeloproliferative disorders. In: Silver R.T., and Tefferi A. (Eds). Myeloproliferative Disorders (2008), Informa Healthcare, New York 51-68
16. Najfeld V., Cozza A., Berkofsky-Fessler W., et al. Numerical gain and structural rearrangements of JAK2, identified by FISH, characterize both JAK2V617V.F-positive and-negative patients with Ph-negative MPD, myelodysplasia and B-lymphoid neoplasams. Exp Hematol 35 (2007) 1668-1676
17. Schaub F.X., Jager R., Looser R., et al. Clonal analysis of deletions on chromosome 20q and JAK2-V617F in MPD suggests that del20q acts independently and is not one of the pre-disposing mutations for JAK2-V617F. Blood 113 (2009) 2022-2027
18. Tefferi A., and Vardiman J.W. Classification and diagnosis of myeloprolifertaive neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukaemia 22 (2008) 14-22
19. Najfeld V., Coyle T., and Berk P.D. Transformation of polycythemia vera to acute nonlymphocytic leukemia accompanied by t(1;3)(p36;q21) karyotype. Cancer Genet Cytogenet 33 (1988) 193-200
20. Najfeld V., Montella L., Scalise A., and Fruchtman S. Exploring polycythaemia vera with fluorescence in situ hybridization: additional cryptic 9p is the most frequent abnormality detected. Br J Haematol 119 (2002) 558-566
21. Xu M.J., Tsuji K., Ueda T., et al. Stimulation of mouse and human primitive hematopoiesis by murine embryonic aorta-gonad-mesonephros-derived stromal cell lines. Blood 92 (1998) 2032-2340
22. Kralovics R., Guan Y., and Prchal J.T.T. Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera. Exp Hematol 30 (2002) 229-236
23. Plo I., Nakatake M., Malivert L., et al. JAK2 stimulates homologous recombination and genetic instability: potential implication in the heterogeneity of myeloproliferative disorders. Blood 112 (2008) 1402-1412