{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T21:40:59Z","timestamp":1788212459142,"version":"build-2803163510"},"reference-count":151,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2021,8,2]],"date-time":"2021-08-02T00:00:00Z","timestamp":1627862400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"AIRC 5x1000 called \u201cMetastatic disease: the key unmet need in oncology\u201d to MYNERVA project,","award":["21267"],"award-info":[{"award-number":["21267"]}]},{"name":"PRIN (Progetti di rilevante interesse nazionale)-MIUR called \u201cMyeloid neoplasms: an integrated clinical, molecular and therapeutic approach\u201d","award":["2017WXR72T"],"award-info":[{"award-number":["2017WXR72T"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Philadelphia chromosome-negative myeloproliferative neoplasms (MPN) are clonal disorders of a hematopoietic stem cell, characterized by an abnormal proliferation of largely mature cells driven by mutations in JAK2, CALR, and MPL. All these mutations lead to a constitutive activation of the JAK-STAT signaling, which represents a target for therapy. Beyond driver ones, most patients, especially with myelofibrosis, harbor mutations in an array of \u201cmyeloid neoplasm-associated\u201d genes that encode for proteins involved in chromatin modification and DNA methylation, RNA splicing, transcription regulation, and oncogenes. These additional mutations often arise in the context of clonal hematopoiesis of indeterminate potential (CHIP). The extensive characterization of the pathologic genome associated with MPN highlighted selected driver and non-driver mutations for their clinical informativeness. First, driver mutations are enlisted in the WHO classification as major diagnostic criteria and may be used for monitoring of residual disease after transplantation and response to treatment. Second, mutation profile can be used, eventually in combination with cytogenetic, histopathologic, hematologic, and clinical variables, to risk stratify patients regarding thrombosis, overall survival, and rate of transformation to secondary leukemia. This review outlines the molecular landscape of MPN and critically interprets current information for their potential impact on patient management.<\/jats:p>","DOI":"10.3390\/cells10081962","type":"journal-article","created":{"date-parts":[[2021,8,2]],"date-time":"2021-08-02T08:44:11Z","timestamp":1627893851000},"page":"1962","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Integration of Molecular Information in Risk Assessment of Patients with Myeloproliferative Neoplasms"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6241-1206","authenticated-orcid":false,"given":"Giuseppe G.","family":"Loscocco","sequence":"first","affiliation":[{"name":"Centro di Ricerca e Innovazione Malattie Mieloproliferative (CRIMM), Department of Experimental and Clinical Medicine, Azienda Ospedaliera Universitaria Careggi, University of Florence, Largo Brambilla 3, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giacomo","family":"Coltro","sequence":"additional","affiliation":[{"name":"Centro di Ricerca e Innovazione Malattie Mieloproliferative (CRIMM), Department of Experimental and Clinical Medicine, Azienda Ospedaliera Universitaria Careggi, University of Florence, Largo Brambilla 3, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Guglielmelli","sequence":"additional","affiliation":[{"name":"Centro di Ricerca e Innovazione Malattie Mieloproliferative (CRIMM), Department of Experimental and Clinical Medicine, Azienda Ospedaliera Universitaria Careggi, University of Florence, Largo Brambilla 3, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro M.","family":"Vannucchi","sequence":"additional","affiliation":[{"name":"Centro di Ricerca e Innovazione Malattie Mieloproliferative (CRIMM), Department of Experimental and Clinical Medicine, Azienda Ospedaliera Universitaria Careggi, University of Florence, Largo Brambilla 3, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,8,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1182\/blood.V6.4.372.372","article-title":"Editorial: Some Speculations on the Myeloproliferative Syndromes","volume":"6","author":"Dameshek","year":"1951","journal-title":"Blood"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2391","DOI":"10.1182\/blood-2016-03-643544","article-title":"The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute","volume":"127","author":"Arber","year":"2016","journal-title":"Leuk. 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