{"entity":{"id":"paper-jak2-myeloproliferative-neoplasms-leukemia-2010","kind":"paper","name":"Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1","aka":[],"tldr":"Review on JAK2 in Myeloproliferative neoplasms, in Leukemia (2010), one of the most cited Europe PMC records with JAK2 in its title.","summary":"Myeloproliferative neoplasms (MPNs) originate from genetically transformed hematopoietic stem cells that retain the capacity for multilineage differentiation and effective myelopoiesis. Beginning in early 2005, a number of novel mutations involving Janus kinase 2 (JAK2), Myeloproliferative Leukemia Virus (MPL), TET oncogene family member 2 (TET2), Additional Sex Combs-Like 1 (ASXL1), Casitas B-lineage lymphoma proto-oncogene (CBL), Isocitrate dehydrogenase (IDH) and IKAROS family zinc finger 1 (IKZF1) have been described in BCR-ABL1-negative MPNs. However, none of these mutations were MPN specific, displayed mutual exclusivity or could be traced back to a common ancestral clone. JAK2 and MPL mutations appear to exert a phenotype-modifying effect and are distinctly associated with polycythemia vera, essential thrombocythemia and primary myelofibrosis; the corresponding mutational frequencies are approximately 99, 55 and 65% for JAK2 and 0, 3 and 10% for MPL mutations. The incidence of TET2, ASXL1, CBL, IDH or IKZF1 mutations in these disorders ranges from 0 to 17%; these latter mutations are more common in chronic (TET2, ASXL1, CBL) or juvenile (CBL) myelomonocytic leukemias, mastocytosis (TET2), myelodysplastic syndromes (TET2, ASXL1) and secondary acute myeloid leukemia, including blast-phase MPN (IDH, ASXL1, IKZF1). The functional consequences of MPN-associated mutations include unregulated JAK-STAT (Janus kinase/signal transducer and activator of transcription) signaling, epigenetic modulation of transcription and abnormal accumulation of oncoproteins. However, it is not clear as to whether and how these abnormalities contribute to disease initiation, clonal evolution or blastic transformation.\n\nIndexed on Europe PMC as PubMed record 20428194 (DOI 10.1038/leu.2010.69). Its title names JAK2 and its text names Myeloproliferative neoplasms; PubMed types it as a review (review-article, Review). It was matched automatically to the idea \"Clearing the JAK2 clone in polycythaemia vera: interferon plus mutant-selective inhibitors as a route to treatment-free remission\" and no figure has been checked by an editor.","asOf":"2026-09-22","links":[{"label":"Leukemia 2010","url":"https://doi.org/10.1038/leu.2010.69"},{"label":"PubMed","url":"https://pubmed.ncbi.nlm.nih.gov/20428194/"},{"label":"Europe PMC","url":"https://europepmc.org/article/MED/20428194"}],"tags":["europepmc-ingest"],"related":[],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":["leukemia"],"dependsOn":[],"notes":[],"journal":"Leukemia","year":2010,"doi":"10.1038/leu.2010.69","pmid":"20428194","authors":"Tefferi A","paperType":"review","findings":[],"whatItMeans":"One of the most cited reviews Europe PMC returns for JAK2 in Myeloproliferative neoplasms, so it is a natural first reading for anyone weighing the idea it is linked from. The record was linked automatically by title and abstract; read the abstract above and the paper itself before relying on any figure.","caveats":["Matched by JAK2 in the title and Myeloproliferative neoplasms in the title or abstract of the Europe PMC record; the summary reproduces the record's abstract and no figure has been verified against the full paper.","A review summarises other studies; the primary reports it cites are the evidence."]},"route":"/key-papers/paper-jak2-myeloproliferative-neoplasms-leukemia-2010/","neighbours":{"journal":[{"id":"leukemia","kind":"journal","name":"Leukemia","route":"/journals/leukemia/"}],"idea":[{"id":"idea-pv-clone-directed-therapy","kind":"idea","name":"Clearing the JAK2 clone in polycythaemia vera: interferon plus mutant-selective inhibitors as a route to treatment-free remission","route":"/ideas/idea-pv-clone-directed-therapy/"}]}}