{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T21:59:47Z","timestamp":1792187987224,"version":"4.4.0"},"reference-count":142,"publisher":"American Society of Hematology","issue":"16","license":[{"start":{"date-parts":[[2022,11,8]],"date-time":"2022-11-08T00:00:00Z","timestamp":1667865600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,4,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>BCR::ABL1-negative myeloproliferative neoplasms (MPNs) are clonal diseases originating from a single hematopoietic stem cell that cause excessive production of mature blood cells. The 3 subtypes, that is, polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), are diagnosed according to the World Health Organization (WHO) and international consensus classification (ICC) criteria. Acquired gain-of-function mutations in 1 of 3 disease driver genes (JAK2, CALR, and MPL) are the causative events that can alone initiate and promote MPN disease without requiring additional cooperating mutations. JAK2-p.V617F is present in &amp;gt;95% of PV patients, and also in about half of the patients with ET or PMF. ET and PMF are also caused by mutations in CALR or MPL. In \u223c10% of MPN patients, those referred to as being \u201ctriple negative,\u201d none of the known driver gene mutations can be detected. The common theme between the 3 driver gene mutations and triple-negative MPN is that the\u00a0Janus kinase\u2013signal transducer and activator of transcription (JAK\/STAT) signaling pathway is constitutively activated. We review the recent advances in our understanding of the early events after the acquisition of a driver gene mutation. The limiting factor that determines the frequency at which MPN disease develops with a long latency is not the acquisition of driver gene mutations, but rather the expansion of the clone. Factors that control the conversion from clonal hematopoiesis to MPN disease include inherited predisposition, presence of additional mutations, and inflammation. The full extent of knowledge of the mutational landscape in individual MPN patients is now increasingly being used to predict outcome and chose the optimal therapy.<\/jats:p>","DOI":"10.1182\/blood.2022017578","type":"journal-article","created":{"date-parts":[[2022,11,8]],"date-time":"2022-11-08T16:55:00Z","timestamp":1667926500000},"page":"1909-1921","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":175,"title":["Genetic basis and molecular profiling in myeloproliferative neoplasms"],"prefix":"10.1182","volume":"141","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4523-675X","authenticated-orcid":false,"given":"Damien","family":"Luque Paz","sequence":"first","affiliation":[{"name":"1Univ Angers, Nantes Universit\u00e9, CHU Angers, Inserm, CNRS, CRCI2NA, Angers, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6997-8539","authenticated-orcid":false,"given":"Robert","family":"Kralovics","sequence":"additional","affiliation":[{"name":"2Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3626-9496","authenticated-orcid":false,"given":"Radek C.","family":"Skoda","sequence":"additional","affiliation":[{"name":"3Department of Biomedicine, Experimental Hematology, University Hospital Basel and University of Basel, Basel, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"issue":"17","key":"2023110216015545400_bib1","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1056\/NEJM197610212951702","article-title":"Polycythemia vera: stem-cell and probable clonal origin of the disease","volume":"295","author":"Adamson","year":"1976","journal-title":"N\u00a0Engl J Med"},{"issue":"6","key":"2023110216015545400_bib2","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1182\/blood-2016-10-695940","article-title":"Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms","volume":"129","author":"Vainchenker","year":"2017","journal-title":"Blood"},{"issue":"16","key":"2023110216015545400_bib3","doi-asserted-by":"crossref","first-page":"6224","DOI":"10.1073\/pnas.0601462103","article-title":"The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation","volume":"103","author":"Jamieson","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"11","key":"2023110216015545400_bib4","doi-asserted-by":"crossref","first-page":"2213","DOI":"10.1084\/jem.20131371","article-title":"Myeloproliferative neoplasms can be initiated from a single hematopoietic stem cell expressing JAK2-V617F","volume":"211","author":"Lundberg","year":"2014","journal-title":"J\u00a0Exp Med"},{"issue":"3","key":"2023110216015545400_bib5","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1016\/j.stem.2021.02.001","article-title":"Reconstructing the lineage histories and differentiation trajectories of individual cancer cells in myeloproliferative neoplasms","volume":"28","author":"Van Egeren","year":"2021","journal-title":"Cell Stem Cell"},{"issue":"7895","key":"2023110216015545400_bib6","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1038\/s41586-021-04312-6","article-title":"Life histories of myeloproliferative neoplasms inferred from phylogenies","volume":"602","author":"Williams","year":"2022","journal-title":"Nature"},{"issue":"7037","key":"2023110216015545400_bib7","doi-asserted-by":"crossref","first-page":"1144","DOI":"10.1038\/nature03546","article-title":"A\u00a0unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera","volume":"434","author":"James","year":"2005","journal-title":"Nature"},{"issue":"17","key":"2023110216015545400_bib8","doi-asserted-by":"crossref","first-page":"1779","DOI":"10.1056\/NEJMoa051113","article-title":"A\u00a0gain-of-function mutation of JAK2 in myeloproliferative disorders","volume":"352","author":"Kralovics","year":"2005","journal-title":"N\u00a0Engl J Med"},{"issue":"4","key":"2023110216015545400_bib9","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/j.ccr.2005.03.023","article-title":"Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis","volume":"7","author":"Levine","year":"2005","journal-title":"Cancer Cell"},{"issue":"9464","key":"2023110216015545400_bib10","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.1016\/S0140-6736(05)71142-9","article-title":"Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders","volume":"365","author":"Baxter","year":"2005","journal-title":"Lancet"},{"issue":"5","key":"2023110216015545400_bib11","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1056\/NEJMoa065202","article-title":"JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis","volume":"356","author":"Scott","year":"2007","journal-title":"N\u00a0Engl J Med"},{"issue":"7","key":"2023110216015545400_bib12","doi-asserted-by":"crossref","first-page":"e270","DOI":"10.1371\/journal.pmed.0030270","article-title":"MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia","volume":"3","author":"Pikman","year":"2006","journal-title":"PLoS Med"},{"issue":"10","key":"2023110216015545400_bib13","doi-asserted-by":"crossref","first-page":"3472","DOI":"10.1182\/blood-2006-04-018879","article-title":"MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients","volume":"108","author":"Pardanani","year":"2006","journal-title":"Blood"},{"issue":"25","key":"2023110216015545400_bib14","doi-asserted-by":"crossref","first-page":"2379","DOI":"10.1056\/NEJMoa1311347","article-title":"Somatic mutations of calreticulin in myeloproliferative neoplasms","volume":"369","author":"Klampfl","year":"2013","journal-title":"N\u00a0Engl J Med"},{"issue":"25","key":"2023110216015545400_bib15","doi-asserted-by":"crossref","first-page":"2391","DOI":"10.1056\/NEJMoa1312542","article-title":"Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2","volume":"369","author":"Nangalia","year":"2013","journal-title":"N\u00a0Engl J Med"},{"issue":"14","key":"2023110216015545400_bib16","doi-asserted-by":"crossref","first-page":"2220","DOI":"10.1182\/blood-2013-11-537167","article-title":"Clonal evolution and clinical correlates of somatic mutations in myeloproliferative neoplasms","volume":"123","author":"Lundberg","year":"2014","journal-title":"Blood"},{"issue":"15","key":"2023110216015545400_bib17","doi-asserted-by":"crossref","first-page":"1416","DOI":"10.1056\/NEJMoa1716614","article-title":"Classification and personalized prognosis in myeloproliferative neoplasms","volume":"379","author":"Grinfeld","year":"2018","journal-title":"N\u00a0Engl J Med"},{"issue":"7724","key":"2023110216015545400_bib18","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1038\/s41586-018-0497-0","article-title":"Population dynamics of normal human blood inferred from somatic mutations","volume":"561","author":"Lee-Six","year":"2018","journal-title":"Nature"},{"issue":"7913","key":"2023110216015545400_bib19","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/s41586-022-04786-y","article-title":"Clonal dynamics of haematopoiesis across the human lifespan","volume":"606","author":"Mitchell","year":"2022","journal-title":"Nature"},{"issue":"11","key":"2023110216015545400_bib20","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1038\/ng.2413","article-title":"Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis","volume":"44","author":"Busque","year":"2012","journal-title":"Nat Genet"},{"issue":"5","key":"2023110216015545400_bib21","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1182\/blood.2019001113","article-title":"Prevalence and phenotypes of JAK2 V617F and calreticulin mutations in a Danish general population","volume":"134","author":"Cordua","year":"2019","journal-title":"Blood"},{"issue":"9","key":"2023110216015545400_bib22","doi-asserted-by":"crossref","first-page":"1448","DOI":"10.3324\/haematol.2014.107631","article-title":"JAK2V617F somatic mutation in the general population: myeloproliferative neoplasm development and progression rate","volume":"99","author":"Nielsen","year":"2014","journal-title":"Haematologica"},{"issue":"9","key":"2023110216015545400_bib23","doi-asserted-by":"crossref","first-page":"2706","DOI":"10.1038\/s41375-021-01159-8","article-title":"Early detection of myeloproliferative neoplasms in a Danish general population study","volume":"35","author":"Cordua","year":"2021","journal-title":"Leukemia"},{"issue":"22","key":"2023110216015545400_bib24","doi-asserted-by":"crossref","first-page":"2591","DOI":"10.1182\/blood.2019002943","article-title":"MPN patients with low mutant JAK2 allele burden show late expansion restricted to erythroid and megakaryocytic lineages","volume":"136","author":"Nienhold","year":"2020","journal-title":"Blood"},{"issue":"14","key":"2023110216015545400_bib25","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1182\/bloodadvances.2017007047","article-title":"JAK2 V617F hematopoietic clones are present several years prior to MPN diagnosis and follow different expansion kinetics","volume":"1","author":"McKerrell","year":"2017","journal-title":"Blood Adv"},{"issue":"7913","key":"2023110216015545400_bib26","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1038\/s41586-022-04785-z","article-title":"The longitudinal dynamics and natural history of clonal haematopoiesis","volume":"606","author":"Fabre","year":"2022","journal-title":"Nature"},{"issue":"37","key":"2023110216015545400_bib27","doi-asserted-by":"crossref","first-page":"e2120374119","DOI":"10.1073\/pnas.2120374119","article-title":"Inferring the initiation and development of myeloproliferative neoplasms","volume":"119","author":"Hermange","year":"2022","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"2","key":"2023110216015545400_bib28","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1038\/s41408-018-0166-4","article-title":"High frequencies of circulating memory T cells specific for calreticulin exon 9 mutations in healthy individuals","volume":"9","author":"Holmstrom","year":"2019","journal-title":"Blood Cancer J"},{"issue":"1","key":"2023110216015545400_bib29","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1186\/s40425-018-0386-y","article-title":"Isolation of T cell receptors targeting recurrent neoantigens in hematological malignancies","volume":"6","author":"Tubb","year":"2018","journal-title":"J\u00a0Immunother Cancer"},{"issue":"25","key":"2023110216015545400_bib30","doi-asserted-by":"crossref","first-page":"9555","DOI":"10.1074\/jbc.RA118.002836","article-title":"Tumor-associated calreticulin variants functionally compromise the peptide loading complex and impair its recruitment of MHC-I","volume":"293","author":"Arshad","year":"2018","journal-title":"J\u00a0Biol Chem"},{"key":"2023110216015545400_bib31","doi-asserted-by":"crossref","first-page":"637420","DOI":"10.3389\/fonc.2021.637420","article-title":"Therapeutic cancer vaccination with a peptide derived from the calreticulin exon 9 mutations induces strong cellular immune responses in patients with CALR-mutant chronic myeloproliferative neoplasms","volume":"11","author":"Handlos Grauslund","year":"2021","journal-title":"Front Oncol"},{"issue":"12","key":"2023110216015545400_bib32","doi-asserted-by":"crossref","first-page":"2957","DOI":"10.1007\/s00277-021-04618-5","article-title":"Phase II study of single-agent nivolumab in patients with myelofibrosis","volume":"100","author":"Abou Dalle","year":"2021","journal-title":"Ann Hematol"},{"issue":"2","key":"2023110216015545400_bib33","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1182\/blood.2019000519","article-title":"Mutational landscape of the transcriptome offers putative targets for immunotherapy of myeloproliferative neoplasms","volume":"134","author":"Schischlik","year":"2019","journal-title":"Blood"},{"issue":"429","key":"2023110216015545400_bib34","doi-asserted-by":"crossref","first-page":"eaam7729","DOI":"10.1126\/scitranslmed.aam7729","article-title":"Oncogenic JAK2(V617F) causes PD-L1 expression, mediating immune escape in myeloproliferative neoplasms","volume":"10","author":"Prestipino","year":"2018","journal-title":"Sci Transl Med"},{"issue":"4","key":"2023110216015545400_bib35","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1002\/ajh.26461","article-title":"PD-L1 overexpression correlates with JAK2-V617F mutational burden and is associated with 9p uniparental disomy in myeloproliferative neoplasms","volume":"97","author":"Milosevic Feenstra","year":"2022","journal-title":"Am J Hematol"},{"issue":"6","key":"2023110216015545400_bib36","doi-asserted-by":"crossref","first-page":"2199","DOI":"10.1182\/blood-2008-03-143602","article-title":"Increased risks of polycythemia vera, essential thrombocythemia, and myelofibrosis among 24,577 first-degree relatives of 11,039 patients with myeloproliferative neoplasms in Sweden","volume":"112","author":"Landgren","year":"2008","journal-title":"Blood"},{"key":"2023110216015545400_bib37","doi-asserted-by":"crossref","first-page":"3793","DOI":"10.1182\/blood-2003-03-0885","article-title":"Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease","volume":"102(10)","author":"Kralovics","year":"2003","journal-title":"Blood"},{"issue":"1","key":"2023110216015545400_bib38","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1182\/blood-2005-12-4852","article-title":"Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders","volume":"108","author":"Bellanne-Chantelot","year":"2006","journal-title":"Blood"},{"issue":"10","key":"2023110216015545400_bib39","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1038\/ng.3380","article-title":"Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies","volume":"47","author":"Saliba","year":"2015","journal-title":"Nat Genet"},{"issue":"3","key":"2023110216015545400_bib40","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1182\/blood-2015-09-668673","article-title":"Germline RBBP6 mutations in familial myeloproliferative neoplasms","volume":"127","author":"Harutyunyan","year":"2016","journal-title":"Blood"},{"issue":"1","key":"2023110216015545400_bib41","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1111\/bjh.18165","article-title":"An inherited gain-of-function risk allele in EPOR predisposes to familial JAK2(V617F) myeloproliferative neoplasms","volume":"198","author":"Rabadan Moraes","year":"2022","journal-title":"Br J Haematol"},{"issue":"4","key":"2023110216015545400_bib42","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1038\/ng.341","article-title":"A\u00a0common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms","volume":"41","author":"Olcaydu","year":"2009","journal-title":"Nat Genet"},{"issue":"4","key":"2023110216015545400_bib43","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1038\/ng.334","article-title":"JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms","volume":"41","author":"Jones","year":"2009","journal-title":"Nat Genet"},{"issue":"4","key":"2023110216015545400_bib44","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1038\/ng.342","article-title":"A\u00a0germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms","volume":"41","author":"Kilpivaara","year":"2009","journal-title":"Nat Genet"},{"issue":"6","key":"2023110216015545400_bib45","doi-asserted-by":"crossref","first-page":"1371","DOI":"10.1038\/leu.2014.48","article-title":"The germline sequence variant rs2736100_C in TERT associates with myeloproliferative neoplasms","volume":"28","author":"Oddsson","year":"2014","journal-title":"Leukemia"},{"key":"2023110216015545400_bib46","doi-asserted-by":"crossref","first-page":"6691","DOI":"10.1038\/ncomms7691","article-title":"Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms","volume":"6","author":"Tapper","year":"2015","journal-title":"Nat Commun"},{"issue":"8","key":"2023110216015545400_bib47","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1182\/blood-2015-06-652941","article-title":"Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms","volume":"128","author":"Hinds","year":"2016","journal-title":"Blood"},{"issue":"7831","key":"2023110216015545400_bib48","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1038\/s41586-020-2786-7","article-title":"Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells","volume":"586","author":"Bao","year":"2020","journal-title":"Nature"},{"issue":"17","key":"2023110216015545400_bib49","doi-asserted-by":"crossref","first-page":"2744","DOI":"10.1182\/blood-2014-01-550863","article-title":"Somatic mutations in calreticulin can be found in pedigrees with familial predisposition to myeloproliferative neoplasms","volume":"123","author":"Lundberg","year":"2014","journal-title":"Blood"},{"issue":"8","key":"2023110216015545400_bib50","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.1084\/jem.20151136","article-title":"Loss of Ezh2 synergizes with JAK2-V617F in initiating myeloproliferative neoplasms and promoting myelofibrosis","volume":"213","author":"Shimizu","year":"2016","journal-title":"J\u00a0Exp Med"},{"issue":"suppl_1","key":"2023110216015545400_bib51","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1182\/blood-2019-129800","article-title":"IL-1\u03b2 secreted from mutant cells carrying JAK2-V617Ffavors early clonal expansion and promotes MPN disease initiation and progression","volume":"134","author":"Rai","year":"2019","journal-title":"Blood"},{"issue":"2","key":"2023110216015545400_bib52","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1056\/NEJMoa1701719","article-title":"Clonal hematopoiesis and risk of atherosclerotic cardiovascular disease","volume":"377","author":"Jaiswal","year":"2017","journal-title":"N\u00a0Engl J Med"},{"issue":"26","key":"2023110216015545400_bib53","doi-asserted-by":"crossref","first-page":"2477","DOI":"10.1056\/NEJMoa1409405","article-title":"Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence","volume":"371","author":"Genovese","year":"2014","journal-title":"N\u00a0Engl J Med"},{"issue":"26","key":"2023110216015545400_bib54","doi-asserted-by":"crossref","first-page":"2488","DOI":"10.1056\/NEJMoa1408617","article-title":"Age-related clonal hematopoiesis associated with adverse outcomes","volume":"371","author":"Jaiswal","year":"2014","journal-title":"N\u00a0Engl J Med"},{"issue":"12","key":"2023110216015545400_bib55","doi-asserted-by":"crossref","first-page":"1472","DOI":"10.1038\/nm.3733","article-title":"Age-related mutations associated with clonal hematopoietic expansion and malignancies","volume":"20","author":"Xie","year":"2014","journal-title":"Nat Med"},{"issue":"5","key":"2023110216015545400_bib56","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1016\/j.cell.2021.01.049","article-title":"Increased stem cell proliferation in atherosclerosis accelerates clonal hematopoiesis","volume":"184","author":"Heyde","year":"2021","journal-title":"Cell"},{"issue":"6","key":"2023110216015545400_bib57","doi-asserted-by":"crossref","first-page":"1643","DOI":"10.1038\/s41375-020-01020-4","article-title":"Interferon alpha therapy in essential thrombocythemia and polycythemia vera-a systematic review and meta-analysis","volume":"35","author":"Bewersdorf","year":"2021","journal-title":"Leukemia"},{"issue":"2","key":"2023110216015545400_bib58","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/j.immuni.2011.02.006","article-title":"Type I interferon inhibits interleukin-1 production and inflammasome activation","volume":"34","author":"Guarda","year":"2011","journal-title":"Immunity"},{"issue":"7","key":"2023110216015545400_bib59","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1038\/s41375-022-01613-1","article-title":"The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic\/dendritic neoplasms","volume":"36","author":"Khoury","year":"2022","journal-title":"Leukemia"},{"issue":"11","key":"2023110216015545400_bib60","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1182\/blood.2022015850","article-title":"International consensus classification of myeloid neoplasms and acute leukemia: integrating morphological, clinical, and genomic data","volume":"140","author":"Arber","year":"2022","journal-title":"Blood"},{"issue":"7457","key":"2023110216015545400_bib61","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1038\/nature12213","article-title":"Mutational heterogeneity in cancer and the search for new cancer-associated genes","volume":"499","author":"Lawrence","year":"2013","journal-title":"Nature"},{"issue":"7793","key":"2023110216015545400_bib62","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1038\/s41586-020-1943-3","article-title":"The repertoire of mutational signatures in human cancer","volume":"578","author":"Alexandrov","year":"2020","journal-title":"Nature"},{"issue":"3","key":"2023110216015545400_bib63","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1007\/s00277-017-3193-5","article-title":"Non-driver mutations in patients with JAK2V617F-mutated polycythemia vera or essential thrombocythemia with long-term molecular follow-up","volume":"97","author":"Senin","year":"2018","journal-title":"Ann Hematol"},{"issue":"4","key":"2023110216015545400_bib64","doi-asserted-by":"crossref","first-page":"1402","DOI":"10.1182\/blood-2008-01-134114","article-title":"JAK2 stimulates homologous recombination and genetic instability: potential implication in the heterogeneity of myeloproliferative disorders","volume":"112","author":"Plo","year":"2008","journal-title":"Blood"},{"issue":"11","key":"2023110216015545400_bib65","doi-asserted-by":"crossref","first-page":"2187","DOI":"10.1038\/leu.2013.102","article-title":"A role for reactive oxygen species in JAK2 myeloproliferative neoplasm progression","volume":"27","author":"Marty","year":"2013","journal-title":"Leukemia"},{"issue":"21","key":"2023110216015545400_bib66","doi-asserted-by":"crossref","first-page":"2228","DOI":"10.1182\/blood.2022015853","article-title":"Genomic profiling for clinical decision making in myeloid neoplasms and acute leukemia","volume":"140","author":"Duncavage","year":"2022","journal-title":"Blood"},{"issue":"21","key":"2023110216015545400_bib67","doi-asserted-by":"crossref","first-page":"2402","DOI":"10.1182\/blood-2018-01-827881","article-title":"Germ line tissues for optimal detection of somatic variants in myelodysplastic syndromes","volume":"131","author":"Padron","year":"2018","journal-title":"Blood"},{"issue":"8","key":"2023110216015545400_bib68","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1002\/gcc.21960","article-title":"Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms","volume":"51","author":"Brecqueville","year":"2012","journal-title":"Genes Chromosomes Cancer"},{"issue":"3","key":"2023110216015545400_bib69","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1111\/bjh.14269","article-title":"Application of an NGS-based 28-gene panel in myeloproliferative neoplasms reveals distinct mutation patterns in essential thrombocythaemia, primary myelofibrosis and polycythaemia vera","volume":"175","author":"Delic","year":"2016","journal-title":"Br J Haematol"},{"issue":"1","key":"2023110216015545400_bib72","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1038\/leu.2014.277","article-title":"SRSF2 and U2AF1 mutations in primary myelofibrosis are associated with JAK2 and MPL but not calreticulin mutation and may independently reoccur after allogeneic stem cell transplantation","volume":"29","author":"Bartels","year":"2015","journal-title":"Leukemia"},{"issue":"2","key":"2023110216015545400_bib73","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/j.ccell.2018.07.003","article-title":"Synthetic lethal and convergent biological effects of cancer-associated spliceosomal gene mutations","volume":"34","author":"Lee","year":"2018","journal-title":"Cancer Cell"},{"issue":"11","key":"2023110216015545400_bib74","doi-asserted-by":"crossref","first-page":"E396","DOI":"10.1002\/ajh.26688","article-title":"Co-expression of mutated Jak2 and Calr enhances myeloproliferative phenotype in mice without loss of stem cell\u00a0fitness","volume":"97","author":"Schueller","year":"2022","journal-title":"Am J Hematol"},{"issue":"5","key":"2023110216015545400_bib75","doi-asserted-by":"crossref","first-page":"e89","DOI":"10.1111\/bjh.17571","article-title":"Acquisition of JAK2 V617F to CALR-mutated clones accelerates disease progression and might enhance growth capacity","volume":"194","author":"Nishimura","year":"2021","journal-title":"Br J Haematol"},{"issue":"1","key":"2023110216015545400_bib76","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1002\/gcc.22789","article-title":"Targeted molecular characterization shows differences between primary and secondary myelofibrosis","volume":"59","author":"Courtier","year":"2020","journal-title":"Genes Chromosomes Cancer"},{"issue":"5","key":"2023110216015545400_bib77","doi-asserted-by":"crossref","first-page":"1442","DOI":"10.1182\/bloodadvances.2020003444","article-title":"Genomic analysis of primary and secondary myelofibrosis redefines the prognostic impact of ASXL1 mutations: a FIM study","volume":"5","author":"Luque Paz","year":"2021","journal-title":"Blood Adv"},{"issue":"1","key":"2023110216015545400_bib78","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1182\/blood-2011-01-331678","article-title":"Genome integrity of myeloproliferative neoplasms in chronic phase and during disease progression","volume":"118","author":"Klampfl","year":"2011","journal-title":"Blood"},{"issue":"5","key":"2023110216015545400_bib79","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1038\/s41375-018-0018-z","article-title":"Revised cytogenetic risk stratification in primary myelofibrosis: analysis based on 1002 informative patients","volume":"32","author":"Tefferi","year":"2018","journal-title":"Leukemia"},{"key":"2023110216015545400_bib80","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/S0301-472X(01)00789-5","article-title":"Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera","volume":"30(3)","author":"Kralovics","year":"2002","journal-title":"Exp Hematol"},{"issue":"2","key":"2023110216015545400_bib70","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1182\/bloodadvances.2016000208","article-title":"Targeted deep sequencing in primary myelofibrosis","volume":"1","author":"Tefferi","year":"2016","journal-title":"Blood Adv"},{"issue":"1","key":"2023110216015545400_bib71","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1182\/bloodadvances.2016000216","article-title":"Targeted deep sequencing in polycythemia vera and essential thrombocythemia","volume":"1","author":"Tefferi","year":"2016","journal-title":"Blood Adv"},{"issue":"3","key":"2023110216015545400_bib81","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1182\/blood-2015-07-661983","article-title":"Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients","volume":"127","author":"Cabagnols","year":"2016","journal-title":"Blood"},{"issue":"3","key":"2023110216015545400_bib82","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1182\/blood-2015-07-661835","article-title":"Whole-exome sequencing identifies novel MPL and JAK2 mutations in triple-negative myeloproliferative neoplasms","volume":"127","author":"Milosevic Feenstra","year":"2016","journal-title":"Blood"},{"issue":"10","key":"2023110216015545400_bib83","doi-asserted-by":"crossref","first-page":"E264","DOI":"10.1002\/ajh.25580","article-title":"Diagnostic and prognostic contribution of targeted NGS in patients with triple-negative myeloproliferative neoplasms","volume":"94","author":"Acha","year":"2019","journal-title":"Am J Hematol"},{"issue":"11","key":"2023110216015545400_bib84","doi-asserted-by":"crossref","first-page":"2725","DOI":"10.3324\/haematol.2022.280917","article-title":"Histological, genetic characterization and follow-up of 130 patients with chronic triplenegative thrombocytosis","volume":"107","author":"Lemoine","year":"2022","journal-title":"Haematologica"},{"issue":"10","key":"2023110216015545400_bib85","doi-asserted-by":"crossref","first-page":"1418","DOI":"10.1182\/blood-2016-02-698951","article-title":"Cooperation of germ line JAK2 mutations E846D and R1063H in hereditary erythrocytosis with megakaryocytic atypia","volume":"128","author":"Kapralova","year":"2016","journal-title":"Blood"},{"issue":"1","key":"2023110216015545400_bib86","doi-asserted-by":"crossref","first-page":"65","DOI":"10.3324\/haematol.2009.007542","article-title":"Hereditary thrombocytosis caused by MPLSer505Asn is associated with a high thrombotic risk, splenomegaly and progression to bone marrow fibrosis","volume":"95","author":"Teofili","year":"2010","journal-title":"Haematologica"},{"issue":"10","key":"2023110216015545400_bib87","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1056\/NEJMc1200349","article-title":"Germline JAK2 mutation in a family with hereditary thrombocytosis","volume":"366","author":"Mead","year":"2012","journal-title":"N\u00a0Engl J Med"},{"issue":"5","key":"2023110216015545400_bib88","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1111\/bjh.15954","article-title":"Next generation sequencing redefines a triple negative essential thrombocythaemia as double-positive with rare mutations on JAK2 V617 and MPL W515 hotspots","volume":"186","author":"Beucher","year":"2019","journal-title":"Br J Haematol"},{"issue":"4","key":"2023110216015545400_bib89","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1182\/blood.2019002561","article-title":"Novel drivers and modifiers of MPL-dependent oncogenic transformation identified by deep mutational scanning","volume":"135","author":"Bridgford","year":"2020","journal-title":"Blood"},{"issue":"8","key":"2023110216015545400_bib90","doi-asserted-by":"crossref","first-page":"2166","DOI":"10.1038\/s41375-021-01290-6","article-title":"JAK2 unmutated erythrocytosis: current diagnostic approach and therapeutic views","volume":"35","author":"Gangat","year":"2021","journal-title":"Leukemia"},{"issue":"5","key":"2023110216015545400_bib91","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1002\/ajh.23676","article-title":"JAK2V617F monitoring in polycythemia vera and essential thrombocythemia: clinical usefulness for predicting myelofibrotic transformation and thrombotic events","volume":"89","author":"Alvarez-Larran","year":"2014","journal-title":"Am J Hematol"},{"issue":"6","key":"2023110216015545400_bib92","doi-asserted-by":"crossref","first-page":"2037","DOI":"10.1182\/blood-2006-03-009860","article-title":"High molecular response rate of polycythemia vera patients treated with pegylated interferon alpha-2a","volume":"108","author":"Kiladjian","year":"2006","journal-title":"Blood"},{"issue":"8","key":"2023110216015545400_bib93","doi-asserted-by":"crossref","first-page":"3065","DOI":"10.1182\/blood-2008-03-143537","article-title":"Pegylated interferon-alfa-2a induces complete hematologic and molecular responses with low toxicity in polycythemia vera","volume":"112","author":"Kiladjian","year":"2008","journal-title":"Blood"},{"issue":"24","key":"2023110216015545400_bib94","doi-asserted-by":"crossref","first-page":"2585","DOI":"10.1182\/blood-2015-07-659060","article-title":"Clinical and molecular response to interferon-alpha therapy in essential thrombocythemia patients with CALR mutations","volume":"126","author":"Verger","year":"2015","journal-title":"Blood"},{"issue":"8","key":"2023110216015545400_bib95","doi-asserted-by":"crossref","first-page":"1464","DOI":"10.1182\/blood-2013-04-498956","article-title":"JAK2V617F expression in mice amplifies early hematopoietic cells and gives them a competitive advantage that is hampered by IFNalpha","volume":"122","author":"Hasan","year":"2013","journal-title":"Blood"},{"issue":"18","key":"2023110216015545400_bib96","doi-asserted-by":"crossref","first-page":"3692","DOI":"10.1182\/blood-2012-05-432989","article-title":"Depletion of Jak2V617F myeloproliferative neoplasm-propagating stem cells by interferon-alpha in a murine model of polycythemia vera","volume":"121","author":"Mullally","year":"2013","journal-title":"Blood"},{"issue":"16","key":"2023110216015545400_bib97","doi-asserted-by":"crossref","first-page":"2139","DOI":"10.1182\/blood.2020005563","article-title":"JAK2-V617F and interferon-alpha induce megakaryocyte-biased stem cells characterized by decreased long-term functionality","volume":"137","author":"Rao","year":"2021","journal-title":"Blood"},{"issue":"3","key":"2023110216015545400_bib98","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1182\/blood.2020005792","article-title":"Germline genetic factors influence the outcome of interferon-alpha therapy in polycythemia vera","volume":"137","author":"Jager","year":"2021","journal-title":"Blood"},{"issue":"4","key":"2023110216015545400_bib99","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1038\/s41375-018-0295-6","article-title":"JAK2V617F but not CALR mutations confer increased molecular responses to interferon-alpha via JAK1\/STAT1 activation","volume":"33","author":"Czech","year":"2019","journal-title":"Leukemia"},{"issue":"22","key":"2023110216015545400_bib100","doi-asserted-by":"crossref","first-page":"2231","DOI":"10.1182\/blood.2021010986","article-title":"Inferring the dynamics of mutated hematopoietic stem and progenitor cells induced by IFNalpha in myeloproliferative neoplasms","volume":"138","author":"Mosca","year":"2021","journal-title":"Blood"},{"issue":"8","key":"2023110216015545400_bib101","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1038\/leu.2010.120","article-title":"Clonal analysis of erythroid progenitors suggests that pegylated interferon alpha-2a treatment targets JAK2V617F clones without affecting TET2 mutant cells","volume":"24","author":"Kiladjian","year":"2010","journal-title":"Leukemia"},{"issue":"6","key":"2023110216015545400_bib102","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1182\/blood-2012-07-442012","article-title":"Molecular analysis of patients with polycythemia vera or essential thrombocythemia receiving pegylated interferon alpha-2a","volume":"122","author":"Quintas-Cardama","year":"2013","journal-title":"Blood"},{"issue":"suppl 1","key":"2023110216015545400_bib103","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1182\/blood-2020-140548","article-title":"Loss of Dnmt3a confers resistance to pegifn\u03b1 in JAK2 -V617F mouse model","volume":"136","author":"Stetka","year":"2020","journal-title":"Blood"},{"issue":"7","key":"2023110216015545400_bib104","doi-asserted-by":"crossref","first-page":"2107","DOI":"10.1182\/bloodadvances.2021004856","article-title":"Genomic profiling of a randomized trial of interferon-alpha vs hydroxyurea in MPN reveals mutation-specific responses","volume":"6","author":"Knudsen","year":"2022","journal-title":"Blood Adv"},{"issue":"5","key":"2023110216015545400_bib105","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1038\/s41375-018-0077-1","article-title":"Philadelphia chromosome-negative classical myeloproliferative neoplasms: revised management recommendations from European LeukemiaNet","volume":"32","author":"Barbui","year":"2018","journal-title":"Leukemia"},{"issue":"9","key":"2023110216015545400_bib106","doi-asserted-by":"crossref","first-page":"1804","DOI":"10.1038\/leu.2014.76","article-title":"The number of prognostically detrimental mutations and prognosis in primary myelofibrosis: an international study of 797\u00a0patients","volume":"28","author":"Guglielmelli","year":"2014","journal-title":"Leukemia"},{"issue":"9","key":"2023110216015545400_bib107","doi-asserted-by":"crossref","first-page":"1861","DOI":"10.1038\/leu.2013.119","article-title":"Mutations and prognosis in primary myelofibrosis","volume":"27","author":"Vannucchi","year":"2013","journal-title":"Leukemia"},{"issue":"4","key":"2023110216015545400_bib108","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1200\/JCO.2017.76.4886","article-title":"MIPSS70: mutation-enhanced international prognostic score system for transplantation-age patients with primary myelofibrosis","volume":"36","author":"Guglielmelli","year":"2018","journal-title":"J\u00a0Clin Oncol"},{"issue":"17","key":"2023110216015545400_bib109","doi-asserted-by":"crossref","first-page":"1769","DOI":"10.1200\/JCO.2018.78.9867","article-title":"MIPSS70+ version 2.0: mutation and karyotype-enhanced international prognostic scoring system for primary myelofibrosis","volume":"36","author":"Tefferi","year":"2018","journal-title":"J\u00a0Clin Oncol"},{"issue":"7","key":"2023110216015545400_bib110","doi-asserted-by":"crossref","first-page":"1631","DOI":"10.1038\/s41375-018-0107-z","article-title":"GIPSS: genetically inspired prognostic scoring system for primary myelofibrosis","volume":"32","author":"Tefferi","year":"2018","journal-title":"Leukemia"},{"issue":"3","key":"2023110216015545400_bib111","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1038\/s41375-019-0603-9","article-title":"Prognostic impact of RAS-pathway mutations in patients with myelofibrosis","volume":"34","author":"Santos","year":"2020","journal-title":"Leukemia"},{"issue":"9","key":"2023110216015545400_bib112","doi-asserted-by":"crossref","first-page":"2927","DOI":"10.1182\/bloodadvances.2021006350","article-title":"ASXL1 mutations are prognostically significant in PMF, but not MF following essential thrombocythemia or polycythemia vera","volume":"6","author":"Guglielmelli","year":"2022","journal-title":"Blood Adv"},{"issue":"10","key":"2023110216015545400_bib113","doi-asserted-by":"crossref","first-page":"2003","DOI":"10.1182\/blood-2009-09-245381","article-title":"Clonal analysis of TET2 and JAK2 mutations suggests that TET2 can be a late event in the progression of myeloproliferative neoplasms","volume":"115","author":"Schaub","year":"2010","journal-title":"Blood"},{"issue":"11","key":"2023110216015545400_bib114","doi-asserted-by":"crossref","first-page":"e438","DOI":"10.3324\/haematol.2015.129510","article-title":"DNMT3A mutations occur early or late in patients with myeloproliferative neoplasms and mutation order influences phenotype","volume":"100","author":"Nangalia","year":"2015","journal-title":"Haematologica"},{"issue":"7","key":"2023110216015545400_bib115","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1056\/NEJMoa1412098","article-title":"Effect of mutation order on myeloproliferative neoplasms","volume":"372","author":"Ortmann","year":"2015","journal-title":"N\u00a0Engl J Med"},{"issue":"6","key":"2023110216015545400_bib116","doi-asserted-by":"crossref","first-page":"1292","DOI":"10.1016\/j.molcel.2019.01.009","article-title":"Unravelling intratumoral heterogeneity through high-sensitivity single-cell mutational analysis and parallel RNA sequencing","volume":"73","author":"Rodriguez-Meira","year":"2019","journal-title":"Mol Cell"},{"issue":"7765","key":"2023110216015545400_bib117","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1038\/s41586-019-1367-0","article-title":"Somatic mutations and cell identity linked by genotyping of transcriptomes","volume":"571","author":"Nam","year":"2019","journal-title":"Nature"},{"issue":"7834","key":"2023110216015545400_bib118","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1038\/s41586-020-2864-x","article-title":"Single-cell mutation analysis of clonal evolution in myeloid malignancies","volume":"587","author":"Miles","year":"2020","journal-title":"Nature"},{"key":"2023110216015545400_bib119","article-title":"Impact of clonal architecture on clinical course and prognosis in patients with myeloproliferative neoplasms","author":"Luque Paz","year":"2022","journal-title":"bioRxiv"},{"issue":"5","key":"2023110216015545400_bib120","doi-asserted-by":"crossref","first-page":"1628","DOI":"10.1182\/blood-2008-02-138230","article-title":"The natural history and treatment outcome of blast phase BCR-ABL- myeloproliferative neoplasms","volume":"112","author":"Tam","year":"2008","journal-title":"Blood"},{"issue":"11","key":"2023110216015545400_bib121","doi-asserted-by":"crossref","first-page":"1645","DOI":"10.3324\/haematol.13346","article-title":"Prognostic factors for thrombosis, myelofibrosis, and leukemia in essential thrombocythemia: a study of 605 patients","volume":"93","author":"Passamonti","year":"2008","journal-title":"Haematologica"},{"issue":"4","key":"2023110216015545400_bib122","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1200\/JCO.2010.32.2446","article-title":"DIPSS plus: a refined dynamic international prognostic scoring system for primary myelofibrosis that incorporates prognostic information from karyotype, platelet count, and transfusion status","volume":"29","author":"Gangat","year":"2011","journal-title":"J\u00a0Clin Oncol"},{"issue":"9","key":"2023110216015545400_bib123","doi-asserted-by":"crossref","first-page":"1874","DOI":"10.1038\/leu.2013.163","article-title":"Survival and prognosis among 1545 patients with contemporary polycythemia vera: an international study","volume":"27","author":"Tefferi","year":"2013","journal-title":"Leukemia"},{"issue":"4","key":"2023110216015545400_bib124","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1056\/NEJMc0910063","article-title":"Somatic mutations of IDH1 and IDH2 in the leukemic transformation of myeloproliferative neoplasms","volume":"362","author":"Green","year":"2010","journal-title":"N\u00a0Engl J Med"},{"issue":"10","key":"2023110216015545400_bib125","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1038\/leu.2010.163","article-title":"LNK mutation studies in blast-phase myeloproliferative neoplasms, and in chronic-phase disease with TET2, IDH, JAK2 or MPL mutations","volume":"24","author":"Pardanani","year":"2010","journal-title":"Leukemia"},{"issue":"2","key":"2023110216015545400_bib126","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1158\/0008-5472.CAN-09-3783","article-title":"Genetic analysis of transforming events that convert chronic myeloproliferative neoplasms to leukemias","volume":"70","author":"Abdel-Wahab","year":"2010","journal-title":"Cancer Res"},{"issue":"5","key":"2023110216015545400_bib127","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1056\/NEJMc1012718","article-title":"p53 lesions in leukemic transformation","volume":"364","author":"Harutyunyan","year":"2011","journal-title":"N\u00a0Engl J Med"},{"issue":"19","key":"2023110216015545400_bib128","doi-asserted-by":"crossref","first-page":"4480","DOI":"10.1182\/blood-2011-11-390252","article-title":"Genetic analysis of patients with leukemic transformation of myeloproliferative neoplasms shows recurrent SRSF2 mutations that are associated with adverse outcome","volume":"119","author":"Zhang","year":"2012","journal-title":"Blood"},{"issue":"50","key":"2023110216015545400_bib129","doi-asserted-by":"crossref","first-page":"E5401","DOI":"10.1073\/pnas.1407792111","article-title":"Genomic and functional analysis of leukemic transformation of myeloproliferative neoplasms","volume":"111","author":"Rampal","year":"2014","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"1","key":"2023110216015545400_bib130","doi-asserted-by":"crossref","first-page":"e11","DOI":"10.3324\/haematol.2016.152363","article-title":"Genomic analysis of myeloproliferative neoplasms in chronic and acute phases","volume":"102","author":"Courtier","year":"2017","journal-title":"Haematologica"},{"issue":"4","key":"2023110216015545400_bib131","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1182\/bloodadvances.2018015875","article-title":"Targeted next-generation sequencing in blast phase myeloproliferative neoplasms","volume":"2","author":"Lasho","year":"2018","journal-title":"Blood Adv"},{"issue":"1","key":"2023110216015545400_bib132","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1182\/blood.2019000943","article-title":"Leukemia secondary to myeloproliferative neoplasms","volume":"136","author":"Dunbar","year":"2020","journal-title":"Blood"},{"issue":"1","key":"2023110216015545400_bib133","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1182\/blood-2006-12-062125","article-title":"Leukemic blasts in transformed JAK2-V617F-positive myeloproliferative disorders are frequently negative for the JAK2-V617F\u00a0mutation","volume":"110","author":"Theocharides","year":"2007","journal-title":"Blood"},{"issue":"14","key":"2023110216015545400_bib134","doi-asserted-by":"crossref","first-page":"2891","DOI":"10.1182\/blood-2009-08-236596","article-title":"Two routes to leukemic transformation after a JAK2 mutation-positive myeloproliferative neoplasm","volume":"115","author":"Beer","year":"2010","journal-title":"Blood"},{"issue":"18","key":"2023110216015545400_bib135","doi-asserted-by":"crossref","first-page":"2797","DOI":"10.1182\/blood.2021013925","article-title":"HMGA1 chromatin regulators induce transcriptional networks involved in GATA2 and proliferation during MPN progression","volume":"139","author":"Li","year":"2022","journal-title":"Blood"},{"issue":"25","key":"2023110216015545400_bib136","doi-asserted-by":"crossref","first-page":"3630","DOI":"10.1182\/blood.2021014465","article-title":"BMP2\/SMAD pathway activation in JAK2\/p53-mutant megakaryocyte\/erythroid progenitors promotes leukemic transformation","volume":"139","author":"Li","year":"2022","journal-title":"Blood"},{"issue":"19","key":"2023110216015545400_bib137","doi-asserted-by":"crossref","first-page":"4887","DOI":"10.1182\/bloodadvances.2020002271","article-title":"Leukemic evolution of polycythemia vera and essential thrombocythemia: genomic profiles predict time to transformation","volume":"4","author":"Luque Paz","year":"2020","journal-title":"Blood Adv"},{"issue":"2","key":"2023110216015545400_bib138","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1038\/leu.2017.230","article-title":"Low-burden TP53 mutations in chronic phase of myeloproliferative neoplasms: association with age, hydroxyurea administration, disease type and JAK2 mutational status","volume":"32","author":"Kubesova","year":"2018","journal-title":"Leukemia"},{"issue":"5","key":"2023110216015545400_bib139","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1111\/bjh.14762","article-title":"Impact of genotype on leukaemic transformation in polycythaemia vera and essential thrombocythaemia","volume":"178","author":"Alvarez-Larran","year":"2017","journal-title":"Br J Haematol"},{"issue":"6453","key":"2023110216015545400_bib140","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1126\/science.aax3649","article-title":"A\u00a0dominant-negative effect drives selection of TP53 missense mutations in myeloid malignancies","volume":"365","author":"Boettcher","year":"2019","journal-title":"Science"},{"issue":"suppl 1","key":"2023110216015545400_bib141","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1182\/blood-2021-150191","article-title":"Single-cell multi-omics reveals the genetic, cellular and molecular landscape of TP53 mutated leukemic transformation in MPN","volume":"138","author":"Rodriguez-Meira","year":"2021","journal-title":"Blood"},{"key":"2023110216015545400_bib142","doi-asserted-by":"publisher","DOI":"10.1101\/2022.03.1128.485984","article-title":"Deciphering TP53 mutant cancer evolution with single-cell multi-omics","author":"Rodriguez-Meira","year":"29  2022","journal-title":"bioRxiv"}],"container-title":["Blood"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/ashpublications.org\/blood\/article-pdf\/141\/16\/1909\/2087919\/blood_bld-2022-017578-c-main.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/ashpublications.org\/blood\/article-pdf\/141\/16\/1909\/2087919\/blood_bld-2022-017578-c-main.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,2]],"date-time":"2023-11-02T12:04:20Z","timestamp":1698926660000},"score":1,"resource":{"primary":{"URL":"https:\/\/ashpublications.org\/blood\/article\/141\/16\/1909\/487047\/Genetic-basis-and-molecular-profiling-in"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,20]]},"references-count":142,"journal-issue":{"issue":"16","published-print":{"date-parts":[[2023,4,20]]}},"URL":"https:\/\/doi.org\/10.1182\/blood.2022017578","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.742400035.793600703","asserted-by":"object"}]},"ISSN":["0006-4971","1528-0020"],"issn-type":[{"value":"0006-4971","type":"print"},{"value":"1528-0020","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,4,20]]}}}