The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes.
作者： David P. Steensma , Gordon W. Dewald , Terra L. Lasho , Heather L. Powell , Rebecca F. McClure
DOI: 10.1182/BLOOD-2005-03-1183
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摘要: A somatic mutation in the JH2 autoinhibitory domain of Janus kinase 2 (JAK2) tyrosine was recently described polycythemia vera, essential thrombocythemia, and myelofibrosis with myeloid metaplasia. The prevalence this either “atypical” myeloproliferative disorders (MPDs) or myelodysplastic syndromes (MDSs) is unknown. Bone marrow–derived genomic DNA from 245 patients—119 chronic myelomonocytic leukemia (CMML), 101 MDS, 11 hypereosinophilic syndrome (HES), 8 systemic mastocytosis (SM), 6 neutrophilic (CNL)—was screened for JAK2 V617F mutation. mutant allele detected patients: 3 CMML (3%), 5 MDS (5%), SM, 1 CNL. Interestingly, one patients SM patient CNL had a history lymphoma, also associated CMML. current observation strengthens specific association between classic MPD, but suggests an infrequent occurrence other disorders.
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Francesco Onida, Miloslav Beran, Chronic myelomonocytic leukemia: myeloproliferative variant. Current hematology reports. ,vol. 3, pp. 218- 226 ,(2004)
Thomas Nösslinger, Regina Reisner, Helga Grüner, Heinz Tüchler, Hadwiga Nowotny, Elisabeth Pittermann, Michael Pfeilstöcker, Dysplastic versus proliferative CMML--a retrospective analysis of 91 patients from a single institution. Leukemia Research. ,vol. 25, pp. 741- 747 ,(2001) , 10.1016/S0145-2126(01)00014-5
Robert Kralovics, Francesco Passamonti, Andreas S. Buser, Soon-Siong Teo, Ralph Tiedt, Jakob R. Passweg, Andre Tichelli, Mario Cazzola, Radek C. Skoda, A Gain-of-Function Mutation of JAK2 in Myeloproliferative Disorders The New England Journal of Medicine. ,vol. 352, pp. 1779- 1790 ,(2005) , 10.1056/NEJMOA051113
H. R. Gralnick, H. R. Gralnick, C. Sultan, J. M. Bennett, M. T. Daniel, D. Catovsky, G. Flandrin, D. A. G. Galton, Proposals for the classification of the myelodysplastic syndromes. British Journal of Haematology. ,vol. 51, pp. 189- 199 ,(1982) , 10.1111/J.1365-2141.1982.TB02771.X
Ulrich Germing, Norbert Gattermann, Horst Minning, Axel Heyll, Carlo Aul, Problems in the classification of CMML—dysplastic versus proliferative type Leukemia Research. ,vol. 22, pp. 871- 878 ,(1998) , 10.1016/S0145-2126(97)00192-6
M A Elliott, C A Hanson, G W Dewald, S A Smoley, T L Lasho, A Tefferi, WHO-defined chronic neutrophilic leukemia: a long-term analysis of 12 cases and a critical review of the literature. Leukemia. ,vol. 19, pp. 313- 317 ,(2005) , 10.1038/SJ.LEU.2403562
I González-Medina, J Bueno, A Torrequebrada, A López, T Vallespı́, I Massagué, Two groups of chronic myelomonocytic leukaemia: myelodysplastic and myeloproliferative. Prognostic implications in a series of a single center Leukemia Research. ,vol. 26, pp. 821- 824 ,(2002) , 10.1016/S0145-2126(02)00021-8
Eric M. Sandberg, Tiffany A. Wallace, Michael D. Godeny, Danielle VonDerLinden, Peter P. Sayeski, Jak2 tyrosine kinase: a true jak of all trades? Cell Biochemistry and Biophysics. ,vol. 41, pp. 207- 232 ,(2004) , 10.1385/CBB:41:2:207
A Pardanani, M Elliott, T Reeder, C-Y Li, EJ Baxter, NCP Cross, A Tefferi, Imatinib for systemic mast-cell disease The Lancet. ,vol. 362, pp. 535- 537 ,(2003) , 10.1016/S0140-6736(03)14115-3
Chloé James, Valérie Ugo, Jean-Pierre Le Couédic, Judith Staerk, François Delhommeau, Catherine Lacout, Loïc Garçon, Hana Raslova, Roland Berger, Annelise Bennaceur-Griscelli, Jean Luc Villeval, Stefan N. Constantinescu, Nicole Casadevall, William Vainchenker, A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera Nature. ,vol. 434, pp. 1144- 1148 ,(2005) , 10.1038/NATURE03546