{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T18:06:18Z","timestamp":1792173978319,"version":"4.4.0"},"reference-count":46,"publisher":"American Society of Hematology","issue":"19","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,10,13]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Among myeloproliferative neoplasms, polycythemia vera (PV) and essential thrombocythemia (ET) are the 2 entities associated with the most chronic disease course. Leukemic evolution occurs rarely but has a grim prognosis. The interval between diagnosis and leukemic evolution is highly variable, from a few years to &amp;gt;20 years. We performed a molecular evaluation of 49 leukemic transformations of PV and ET by targeted next-generation sequencing. Using a hierarchical classification, we identified 3 molecular groups associated with a distinct time to leukemic transformation. Short-term transformations were mostly characterized by a complex molecular landscape and mutations in IDH1\/2, RUNX1, and U2AF1 genes, whereas long-term transformations were associated with mutations in TP53, NRAS, and BCORL1 genes. Studying paired samples from chronic phase and transformation, we detected some mutations already present during the chronic phase, either with a significant allele burden (short-term transformation) or with a very low allele burden (especially TP53 mutations). However, other mutations were not detected even 1 year before leukemic transformation. Our results suggest that the leukemic transformation of PV and ET may be driven by distinct time-dependent molecular mechanisms.<\/jats:p>","DOI":"10.1182\/bloodadvances.2020002271","type":"journal-article","created":{"date-parts":[[2020,10,9]],"date-time":"2020-10-09T15:36:21Z","timestamp":1602257781000},"page":"4887-4897","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":76,"title":["Leukemic evolution of polycythemia vera and essential thrombocythemia: genomic profiles predict time to transformation"],"prefix":"10.1182","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4523-675X","authenticated-orcid":false,"given":"Damien","family":"Luque Paz","sequence":"first","affiliation":[{"name":"Universit\u00e9 d'Angers, Inserm, CRCINA, Angers, France;"},{"name":"Unit\u00e9 de Formation et de Recherche (UFR) Sant\u00e9, Universit\u00e9 d\u2019Angers, Angers, France;"},{"name":"Laboratoire d'H\u00e9matologie, Centre Hospitalier Universitaire (CHU) Angers, Angers, France;"},{"name":"F\u00e9d\u00e9ration Hospitalo-Universitaire \u201cGrand Ouest Against Leukemia\u201d (FHU GOAL), Angers, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u00e9becca","family":"Jouanneau-Courville","sequence":"additional","affiliation":[{"name":"Laboratoire d'H\u00e9matologie, Centre Hospitalier Universitaire (CHU) Angers, Angers, France;"},{"name":"F\u00e9d\u00e9ration Hospitalo-Universitaire \u201cGrand Ouest Against Leukemia\u201d (FHU GOAL), Angers, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7056-9257","authenticated-orcid":false,"given":"J\u00e9r\u00e9mie","family":"Riou","sequence":"additional","affiliation":[{"name":"INSERM 1066, Micro et Nanom\u00e9decines Translationnelles (MiNT), Universit\u00e9 d'Angers, Angers, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Christophe","family":"Ianotto","sequence":"additional","affiliation":[{"name":"F\u00e9d\u00e9ration Hospitalo-Universitaire \u201cGrand Ouest Against Leukemia\u201d (FHU GOAL), Angers, France;"},{"name":"Service d\u2019H\u00e9matologie Clinique, Centre Hospitalier R\u00e9gional et Universitaire (CHRU) Brest, Brest, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7oise","family":"Boyer","sequence":"additional","affiliation":[{"name":"F\u00e9d\u00e9ration Hospitalo-Universitaire \u201cGrand Ouest Against Leukemia\u201d (FHU GOAL), Angers, France;"},{"name":"Service des Maladies du Sang, CHU Angers, Angers, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aur\u00e9lie","family":"Chauveau","sequence":"additional","affiliation":[{"name":"F\u00e9d\u00e9ration Hospitalo-Universitaire \u201cGrand Ouest Against Leukemia\u201d (FHU GOAL), Angers, 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