|
|
Blood, 1 February 2007, Vol. 109, No. 3, pp. 1241-1243.
Prepublished online as a Blood First Edition Paper on October 5, 2006; DOI 10.1182/blood-2006-06-029769.
 Previous Article | Next Article 
Submitted June 16, 2006
Accepted August 11, 2006
Long-term serial analysis of X-chromosome inactivation patterns and JAK2 V617F mutant levels in patients with essential thrombocythemia show that minor mutant-positive clones can remain stable for many years
Rosemary E Gale*, Anthony JR Allen, Michael J Nash, and David C. Linch
Department of Haematology, Royal Free and University College Medical School, London, UK
* Corresponding author; email: rosemary.gale{at}ucl.ac.uk.
Essential thrombocythemia (ET) is heterogeneous with respect to natural history, X-chromosome inactivation patterns (XCIPs) and presence of the V617F mutation in Janus kinase 2 (JAK2). We studied 111 ET patients; 39% were JAK2 mutant-positive, and clone size (percentage mutant JAK2) was concordant with XCIP when constitutive T-cell patterns were taken into account. JAK2 mutant clones were present in both clonal and polyclonal cases as determined by XCIP, and the former had higher mutant JAK2 levels (median 26% versus 16%, P = .001). No change was observed in serial XCIP analysis of 14 polyclonal patients over a median follow-up of 61 months. Furthermore, 18 of 19 mutant-positive patients showed no significant change in mutant JAK2 level over a median follow-up of 47 months. These results suggest that, in many cases of ET, a small stable clone containing a JAK2 mutation can be maintained as a sub-population for many years.
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati What's this?
This article has been cited by other articles:
|
|
|
|
 
J. R. Lambert, T. Everington, D. C. Linch, and R. E. Gale
In essential thrombocythemia, multiple JAK2-V617F clones are present in most mutant-positive patients: a new disease paradigm
Blood,
October 1, 2009;
114(14):
3018 - 3023.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
F. Girodon, C. Schaeffer, C. Cleyrat, M. Mounier, I. Lafont, F. D. Santos, A. Vidal, M. Maynadie, and S. Hermouet
Frequent reduction or absence of detection of the JAK2-mutated clone in JAK2V617F-positive patients within the first years of hydroxyurea therapy
Haematologica,
November 1, 2008;
93(11):
1723 - 1727.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
A. Pancrazzi, P. Guglielmelli, V. Ponziani, G. Bergamaschi, A. Bosi, G. Barosi, and A. M. Vannucchi
A Sensitive Detection Method for MPLW515L or MPLW515K Mutation in Chronic Myeloproliferative Disorders with Locked Nucleic Acid-Modified Probes and Real-Time Polymerase Chain Reaction
J. Mol. Diagn.,
September 1, 2008;
10(5):
435 - 441.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
C. James
The JAK2V617F Mutation in Polycythemia Vera and Other Myeloproliferative Disorders: One Mutation for Three Diseases?
Hematology,
January 1, 2008;
2008(1):
69 - 75.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
M. A. Vickers
JAK2 617V>F positive polycythemia rubra vera maintained by approximately 18 stochastic stem-cell divisions per year, explaining age of onset by a single rate-limiting mutation
Blood,
September 1, 2007;
110(5):
1675 - 1680.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
A. M. Vannucchi, E. Antonioli, P. Guglielmelli, A. Rambaldi, G. Barosi, R. Marchioli, R. M. Marfisi, G. Finazzi, V. Guerini, F. Fabris, et al.
Clinical profile of homozygous JAK2 617V>F mutation in patients with polycythemia vera or essential thrombocythemia
Blood,
August 1, 2007;
110(3):
840 - 846.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
