{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:11:45Z","timestamp":1790514705593,"version":"4.1.0"},"reference-count":38,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2016,5,11]],"date-time":"2016-05-11T00:00:00Z","timestamp":1462924800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005010","name":"Associazione Italiana per la Ricerca sul Cancro","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:p>Transformation to secondary myelofibrosis (MF) occurs as part of the natural history of polycythemia vera (PPV\u2010MF) and essential thrombocythemia (PET\u2010MF). Although primary (PMF) and secondary MF are considered similar diseases and managed similarly, there are few studies specifically focused on the latter. The aim of this study was to characterize the mutation landscape, and describe the main clinical correlates and prognostic implications of mutations, in a series of 359 patients with PPV\u2010MF and PET\u2010MF. Compared with PV and ET, the <jats:italic>JAK2<\/jats:italic>V617F and <jats:italic>CALR<\/jats:italic> mutated allele burden was significantly higher in PPV\u2010MF and\/or PET\u2010MF, indicating a role for accumulation of mutated alleles in the process of transformation to MF. However, neither the allele burden nor the type of driver mutation influenced overall survival (OS), while absence of any driver mutation (triple negativity) was associated with significant reduction of OS in PET\u2010MF, similar to PMF. Of the five interrogated subclonal mutations (<jats:italic>ASXL1, EZH2, SRSF2, IDH1,<\/jats:italic> and <jats:italic>IDH2<\/jats:italic>), that comprise a prognostically detrimental high molecular risk (HMR) category in PMF, only <jats:italic>SRSF2<\/jats:italic> mutations were associated with reduced survival in PET\u2010MF, and no additional mutation profile with prognostic relevance was highlighted. Overall, these data indicate that the molecular landscape of secondary forms of MF is different from PMF, suggesting that unknown mutational events might contribute to the progression from chronic phase disease to myelofibrosis. These findings also support more extended genotyping approaches aimed at identifying novel molecular abnormalities with prognostic relevance for patients with PPV\u2010MF and PET\u2010MF. Am. J. Hematol. 91:681\u2013686, 2016. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajh.24377","type":"journal-article","created":{"date-parts":[[2016,4,2]],"date-time":"2016-04-02T22:45:23Z","timestamp":1459637123000},"page":"681-686","source":"Crossref","is-referenced-by-count":93,"title":["Epidemiology and clinical relevance of mutations in postpolycythemia vera and postessential thrombocythemia myelofibrosis: A study on 359 patients of the AGIMM group"],"prefix":"10.1002","volume":"91","author":[{"given":"Giada","family":"Rotunno","sequence":"first","affiliation":[{"name":"CRIMM\u2010Center for Research and Innovation of Myeloproliferative Neoplasms, AOU Careggi, Department of Experimental and Clinical Medicine, DENOTHE Excellence Center University of Florence Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"Pacilli","sequence":"additional","affiliation":[{"name":"CRIMM\u2010Center for Research and Innovation of Myeloproliferative Neoplasms, AOU Careggi, Department of Experimental and Clinical Medicine, DENOTHE Excellence Center University of Florence Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Artusi","sequence":"additional","affiliation":[{"name":"Center for Genome Research, and Department of Medical and Surgical Sciences University of Modena and Reggio Emilia Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Rumi","sequence":"additional","affiliation":[{"name":"Department of Hematology Oncology Fondazione IRCCS Policlinico San Matteo Pavia Italy"},{"name":"Department of Molecular Medicine University of Pavia Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margherita","family":"Maffioli","sequence":"additional","affiliation":[{"name":"Ospedale Di Circolo \u2010 Fondazione Macchi University of Insubria Varese Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Delaini","sequence":"additional","affiliation":[{"name":"Hematology and BMT Unit ASST Papa Giovanni XXIII Bergamo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giada","family":"Brogi","sequence":"additional","affiliation":[{"name":"CRIMM\u2010Center for Research and Innovation of Myeloproliferative Neoplasms, AOU Careggi, Department of Experimental and Clinical Medicine, DENOTHE Excellence Center University of Florence Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiziana","family":"Fanelli","sequence":"additional","affiliation":[{"name":"CRIMM\u2010Center for Research and Innovation of Myeloproliferative Neoplasms, AOU Careggi, Department of Experimental and Clinical Medicine, DENOTHE Excellence Center University of Florence Florence Italy"},{"name":"University of Siena Siena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Pancrazzi","sequence":"additional","affiliation":[{"name":"CRIMM\u2010Center for Research and Innovation of Myeloproliferative Neoplasms, AOU Careggi, Department of Experimental and Clinical Medicine, DENOTHE Excellence Center University of Florence Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Pietra","sequence":"additional","affiliation":[{"name":"Department of Hematology Oncology Fondazione IRCCS Policlinico San Matteo Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella","family":"Bernardis","sequence":"additional","affiliation":[{"name":"Center for Genome Research, and Department of Medical and Surgical Sciences University of Modena and Reggio Emilia Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara","family":"Belotti","sequence":"additional","affiliation":[{"name":"Hematology and BMT Unit ASST Papa Giovanni XXIII Bergamo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Pieri","sequence":"additional","affiliation":[{"name":"CRIMM\u2010Center for Research and Innovation of Myeloproliferative Neoplasms, AOU Careggi, Department of Experimental and Clinical Medicine, DENOTHE Excellence Center University of Florence Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuela","family":"Sant'Antonio","sequence":"additional","affiliation":[{"name":"CRIMM\u2010Center for Research and Innovation of Myeloproliferative Neoplasms, AOU Careggi, Department of Experimental and Clinical Medicine, DENOTHE Excellence Center University of Florence Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Salmoiraghi","sequence":"additional","affiliation":[{"name":"Hematology and BMT Unit ASST Papa Giovanni XXIII Bergamo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Cilloni","sequence":"additional","affiliation":[{"name":"Department of Clinical and Biological Sciences University of Turin San Luigi Hospital Turin Turin Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Rambaldi","sequence":"additional","affiliation":[{"name":"Hematology and BMT Unit ASST Papa Giovanni XXIII Bergamo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Passamonti","sequence":"additional","affiliation":[{"name":"Ospedale Di Circolo \u2010 Fondazione Macchi University of Insubria Varese Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiziano","family":"Barbui","sequence":"additional","affiliation":[{"name":"FROM Research Foundation Ospedale Papa Giovanni XXIII Bergamo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rossella","family":"Manfredini","sequence":"additional","affiliation":[{"name":"Department of Life Sciences, Centre for Regenerative Medicine University of Modena and Reggio Emilia Modena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Cazzola","sequence":"additional","affiliation":[{"name":"Department of Hematology Oncology Fondazione IRCCS Policlinico San Matteo Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Tagliafico","sequence":"additional","affiliation":[{"name":"Center for Genome Research, and Department of Medical and Surgical Sciences University of Modena and Reggio Emilia Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro M.","family":"Vannucchi","sequence":"additional","affiliation":[{"name":"CRIMM\u2010Center for Research and Innovation of Myeloproliferative Neoplasms, AOU Careggi, Department of Experimental and Clinical Medicine, DENOTHE Excellence Center University of Florence Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Guglielmelli","sequence":"additional","affiliation":[{"name":"CRIMM\u2010Center for Research and Innovation of Myeloproliferative Neoplasms, AOU Careggi, Department of Experimental and Clinical Medicine, DENOTHE Excellence Center University of Florence Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,5,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.leukres.2006.12.002"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/bcj.2015.95"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2404914"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.12274"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-02-485888"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoncol.2015.1590"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-02-484832"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2013.101733"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-06-363424"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-05-429696"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-05-578435"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2013.119"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2014.57"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2014.83"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2014.3"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/bcj.2015.90"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-11-536557"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2014.76"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-11-537167"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.13260"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-11-538983"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-07-588426"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-07-170449"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1110557"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1110556"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2014.119545"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2014.270"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2015.277"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-11-679571"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2014.109249"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-01-135897"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-11-539098"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24338"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-12-064287"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2010.148"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.leukres.2010.06.017"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2011.253"},{"key":"e_1_2_6_39_1","first-page":"430","article-title":"Prognostic interactions between SRSF2, ASXL1, and IDH mutations in primary myelofibrosis and determination of added value to cytogenetic risk stratification and DIPSS\u2010Plus","volume":"120","author":"Lasho TL","year":"2012","journal-title":"ASH Annual Meeting Abstracts"}],"container-title":["American Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajh.24377","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajh.24377","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T20:58:31Z","timestamp":1695502711000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajh.24377"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,5,11]]},"references-count":38,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2016,7]]}},"alternative-id":["10.1002\/ajh.24377"],"URL":"https:\/\/doi.org\/10.1002\/ajh.24377","archive":["Portico"],"relation":{},"ISSN":["0361-8609","1096-8652"],"issn-type":[{"value":"0361-8609","type":"print"},{"value":"1096-8652","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,5,11]]}}}