JAK2 and MPL gene mutations in V617F-negative myeloproliferative neoplasms.

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Title:	JAK2 and MPL gene mutations in V617F-negative myeloproliferative neoplasms.
Author(s):	Siemiatkowska, A.M. ; Bieniaszewska, M.; Hellmann, A.; Limon, J.
Publication year:	2010
Source:	Leukemia Research, vol. 34, iss. 3, (2010), pp. 387-389
ISSN:	0145-2126
DOI:	http://dx.doi.org/10.1016/j.leukres.2009.06.017
Annotation:	1 maart 2010
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/87883
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Subject:	IGMD 3: Genomic disorders and inherited multi-system disorders NCMLS 6: Genetics and epigenetic pathways of disease IGMD 3: Genomic disorders and inherited multi-system disorders
Organization:	Ophthalmology
Journal title:	Leukemia Research
Volume:	vol. 34
Issue:	iss. 3
Page start:	p. 387
Page end:	p. 389
Abstract:	We report three novel mutations in JAK2 exons 12, 19 and 25 in V617F-negative patients with polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis. Scanning of JAK2 exons 12-25 and MPL exon 10 revealed the presence of JAK2 alterations in six and MPL W515L/K mutations in five of 34 patients with myeloproliferative disorders. Our results confirm that routine JAK2 analysis should include exon 12 mutations in polycythemia vera patients. MPL gene mutations seem to be associated with thrombocytosis, regardless of the type of myeloproliferative neoplasm.