Publication de 6 numéros par an
ISSN Imprimer: 1045-4403
ISSN En ligne: 2162-6502
Indexed in
Mutational Status of Myeloproliferative Neoplasms
RÉSUMÉ
Philadelphia negative myeloproliferative neoplasms include essential thrombocythemia, polycythemia vera, and primary myelofibrosis. Altered signaling is a hallmark of myeloproliferative neoplasms, as demonstrated by the presence of activating JAK2 (V617F) mutation in about 70% of patients (95% of polycythemia vera, 50%−60% of essential thrombocythemia, and 50%−60% of primary myelofibrosis). How a unique point mutation can cause three different phenotypes remains to be clarified. The oncogenic potential of this mutation has been documented by mouse models, and different clinical studies have demonstrated an effect of mutant allele burden on phenotype. Mutant allele burden, in fact, directly correlates with hemoglobin value, leukocyte count, and, inversely, with platelet count. The molecular basis of JAK2 (V617F)-negative myeloproliferative neoplasms remains largely unexplained. Additional mutations in MPL, TET2, and CBL genes have been found in a small proportion of these patients. Implications of these mutations in the understanding of the pathogenesis of myeloproliferative neoplasms and in the clinical phenotype are discussed in this review.
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Muendlein Axel, Kinz Elena, Gasser Klaus, Leiherer Andreas, Rein Philipp, Saely Christoph H., Grallert Harald, Peters Annette, Fraunberger Peter, Drexel Heinz, Lang Alois H., Occurrence of theJAK2 V617Fmutation in patients with peripheral arterial disease, American Journal of Hematology, 90, 1, 2015. Crossref
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Looyenga Brendan D., Hutchings Danielle, Cherni Irene, Kingsley Chris, Weiss Glen J., MacKeigan Jeffrey P., Gelovani Juri G., STAT3 Is Activated by JAK2 Independent of Key Oncogenic Driver Mutations in Non-Small Cell Lung Carcinoma, PLoS ONE, 7, 2, 2012. Crossref
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Link-Lenczowska Dorota, Pallisgaard Niels, Cordua Sabrina, Zawada Magdalena, Czekalska Sylwia, Krochmalczyk Dorota, Kanduła Zuzanna, Sacha Tomasz, A comparison of qPCR and ddPCR used for quantification of the JAK2 V617F allele burden in Ph negative MPNs, Annals of Hematology, 97, 12, 2018. Crossref
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Zloto Ofira, Lubetsky Aharon, Ben-Bassat Mizrachi Iris, Kesler Anat, Quiros Peter A., Huna-Baron Ruth, Prognostic value of JAK2V617F mutation in pseudotumor cerebri associated with cerebral venous sinus thrombosis, Acta Neurologica Scandinavica, 139, 2, 2019. Crossref
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Naeim Faramarz, Nagesh Rao P., Song Sophie X., Phan Ryan T., Myeloproliferative Neoplasms Associated With JAK2 , MPL, and CALR Mutations, in Atlas of Hematopathology, 2018. Crossref
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