{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T05:51:01Z","timestamp":1792043461221,"version":"4.4.0"},"reference-count":41,"publisher":"American Society of Hematology","issue":"1","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2006,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>JAK2V617F, a somatic gain-of-function mutation involving the JAK2 tyrosine kinase gene, occurs in nearly all patients with polycythemia vera (PV) but also in a variable proportion of patients with other myeloid disorders; mutational frequency is estimated at approximately 50% in both essential thrombocythemia (ET) and myelofibrosis (MF), up to 20% in certain subcategories of atypical myeloproliferative disorder (atypical MPD), less than 3% in de novo myelodysplastic syndrome (MDS) or acute myeloid leukemia, and 0% in chronic myeloid leukemia (CML). Accordingly, there is now molecular justification for grouping PV, ET, and MF together in a distinct MPD category (i.e., classic, BCR-ABL\u2212 MPD) that is separate from chronic myeloid leukemia (CML), MDS, and atypical MPD. To date, JAK2V617F has not been described in patients with reactive myeloproliferation, lymphoid disorders, or solid tumor. Therefore, the presence of JAK2V617F strongly suggests an underlying MPD and it is therefore reasonable to consider JAK2V617F-based laboratory tests for the evaluation of polycythemia, primary thrombocytosis, unexplained leukocytosis, bone marrow fibrosis, or abdominal vein thrombosis. Current information on disease-specific prognostic relevance of JAK2V617F is inconclusive and confounded by inter-study differences in the performance of mutation screening assays. Regardless, the discovery of JAK2V617F has reinforced the pathogenetic contribution of JAK-STAT signaling in MPD and identifies JAK2 as a valid drug target.<\/jats:p>","DOI":"10.1182\/asheducation-2006.1.240","type":"journal-article","created":{"date-parts":[[2006,11,22]],"date-time":"2006-11-22T18:14:02Z","timestamp":1164219242000},"page":"240-245","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":63,"title":["Classification, Diagnosis and Management of Myeloproliferative Disorders in the JAK2V617F Era"],"prefix":"10.1182","volume":"2006","author":[{"given":"Ayalew","family":"Tefferi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"key":"2019111702282291800_R1","unstructured":"Nowell PC, Hungerford DA. Chromosome studies on normal and leukemic human leukocytes. J Natl Cancer Inst. 1960;25:85\u2013109."},{"key":"2019111702282291800_R2","doi-asserted-by":"crossref","unstructured":"Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365:1054\u20131061.","DOI":"10.1016\/S0140-6736(05)71142-9"},{"key":"2019111702282291800_R3","doi-asserted-by":"crossref","unstructured":"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\u2013397.","DOI":"10.1016\/j.ccr.2005.03.023"},{"key":"2019111702282291800_R4","doi-asserted-by":"crossref","unstructured":"Kralovics R, Passamonti F, Buser AS, et al. A gain of function mutation in Jak2 is frequently found in patients with myeloproliferative disorders. 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Blood First Edition Paper, prepublished online May 2, 2006; DOI 101182\/blood-2006-02-002030. 2006.","DOI":"10.1182\/blood-2006-02-002030"},{"key":"2019111702282291800_R11","doi-asserted-by":"crossref","unstructured":"Pikman Y, Lee BH, Mercher T, et al. MPLW515L Is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med. 2006;3:e270.","DOI":"10.1371\/journal.pmed.0030270"},{"key":"2019111702282291800_R12","doi-asserted-by":"crossref","unstructured":"Campbell PJ, Scott LM, Buck G, et al. Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. Lancet. 2005;366:1945\u20131953.","DOI":"10.1016\/S0140-6736(05)67785-9"},{"key":"2019111702282291800_R13","doi-asserted-by":"crossref","unstructured":"Antonioli E, Guglielmelli P, Pancrazzi A, et al. Clinical implications of the JAK2 V617F mutation in essential thrombocythemia. 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The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation. Proc Natl Acad Sci U S A. 2006;103:6224\u20136229.","DOI":"10.1073\/pnas.0601462103"},{"key":"2019111702282291800_R17","doi-asserted-by":"crossref","unstructured":"Bellanne-Chantelot C, Chaumarel I, Labopin M, et al. Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders. Blood First Edition Paper, prepublished online March 14, 2006; DOI 101182\/blood-2005-12-4852. 2006.","DOI":"10.1182\/blood-2005-12-4852"},{"key":"2019111702282291800_R18","doi-asserted-by":"crossref","unstructured":"Lasho TL, Mesa R, Gilliland DG, Tefferi A. Mutation studies in CD3+, CD19+, and CD34+ cell fractions in myeloproliferative disorders with homozygous JAK2V617F in granulocytes. 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