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

Volumn 107, Issue 10, 2006, Pages 4139-4141

  Levine, Ross L ^b   Belisle, Claude ^b   Wadleigh, Martha ^b   Zahrieh, David ^b   Lee, Stephanie ^b   Chagnon, Pierre ^b   Gilliland, D Gary ^b   Busque, Lambert ^a  

^a MAISONNEUVE ROSEMONT HOSPITAL   (Canada)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

JANUS KINASE 2;

ALLELE; ARTICLE; CLONAL VARIATION; GENE MUTATION; GRANULOPOIESIS; HEMATOPOIESIS; MUTATIONAL ANALYSIS; MYELOFIBROSIS; MYELOID METAPLASIA; POLYCYTHEMIA VERA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOMATIC MUTATION; THROMBOTIC THROMBOCYTOPENIC PURPURA; X CHROMOSOME INACTIVATION;

EID: 33645400695     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2005-09-3900     Document Type: Article

References (19)

1. Dameshek W. Some speculations on the myeloproliferative syndromes. Blood. 1951;6:372-375.
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. Cancer Cell. 2005;7:387-397.
3. James C, Ugo V, Le Couedic J, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005;434:1144-1148.
4. Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365:1054-1061.
5. Zhao R, Xing S, Li Z, et al. Identification of an acquired JAK2 mutation in polycythemia vera. J Biol Chem. 2005;280:22788-22792.
6. Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005;352:1779-1790.
7. Jones AV, Kreil S, Zoi K, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood. 2005;106:2162-2168.
8. Goerttler PS, Steimle C, Marz E, et al. The Jak2V617F mutation, PRV-1 overexpression, and EEC formation define a similar cohort of MPD patients. Blood. 2005;106:2862-2864.
9. 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;295:913-916.
10. Gilliland DG, Blanchard KL, Levy J, Perrin S, Bunn HF. Clonality in myeloproliferative disorders: analysis by means of the polymerase chain reaction. Proc Natl Acad Sci U S A. 1991;88:6848-6852.
11. Antonioli E, Guglielmelli P, Pancrazzi A, et al. Clinical implications of the JAK2 V617F mutation in essential thrombocythemia. Leukemia. 2005;19:1847-1849.
12. Busque L, Gilliland DG. X-inactivation analysis in the 1990s: promise and potential problems. Leukemia. 1998;12:128-135.
13. Busque L, Mio R, Mattioli J, et al. Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age. Blood. 1996;88:59-65.
14. Willman C, Busque L, Griffith BB, et al. Langerhans'-cell histiocytosis (Histocytosis X) - a clonal proliferative disease. N Engl J Med. 1994;331:154-160.
15. Mitterbauer G, Winkler K, Gisslinger H, Geissler K, Lechner K, Mannhalter C. Clonality analysis using X-chromosome inactivation at the human androgen receptor gene (Humara). Evaluation of large cohorts of patients with chronic myeloproliferative diseases, secondary neutrophilia, and reactive thrombocytosis. Am J Clin Pathol. 1999;112:93-100.
16. Cox D. The Analysis of Binary Data. London, United Kingdom: Methuen; 1970.
17. Wilcoxon F. Individual comparisons by ranking methods. Biometrics. 1945;1:80-83.
18. Liu E, Jelinek J, Pastore YD, Guan Y, Prchal JF, Prchal JT. Discrimination of polycythemias and thrombocytoses by novel, simple, accurate clonality assays and comparison with PRV-1 expression and BFU-E response to erythropoietin. Blood. 2003;101:3294-3301.
19. Gale RE, Fielding AK, Harrison CN, Linch DC. Acquired skewing of X-chromosome inactivation patterns in myeloid cells of the elderly suggests stochastic clonal loss with age. Br J Haematol. 1997;98:512-519.