{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,8]],"date-time":"2026-11-08T03:14:46Z","timestamp":1794107686130,"version":"4.8.0"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T00:00:00Z","timestamp":1770163200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T00:00:00Z","timestamp":1770163200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100004593","name":"Universidad Aut\u00f3noma de Madrid","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004593","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Ann Hematol"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The mutation of the plant homeodomain finger protein 6 gene (\n                    <jats:italic>PHF6<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>MUT<\/jats:italic>\n                    <\/jats:sup>\n                    ) in patients with myeloid neoplasms (MNs) is rare and appears to play a role in prognosis, though this is still under debate. We conducted a retrospective analysis of a cohort of 313 patients diagnosed with MNs. We also performed a systematic review (SR) of the literature to evaluate the prognostic role of\n                    <jats:italic>PHF6<\/jats:italic>\n                    gene status in MNs. We identified 15 patients with\n                    <jats:italic>PHF6<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>MUT<\/jats:italic>\n                    <\/jats:sup>\n                    . In the multivariate analysis,\n                    <jats:italic>PHF6<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>MUT<\/jats:italic>\n                    <\/jats:sup>\n                    was associated with higher mortality compared to\n                    <jats:italic>PHF6<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>wild\u2009\u2212\u2009type<\/jats:italic>\n                    <\/jats:sup>\n                    (hazard ratio [HR]\u2009=\u20091.02; 95% confidence interval [CI], 1.00\u20131.05;\n                    <jats:italic>P<\/jats:italic>\n                    \u2009=\u20090.075), with no apparent impact from other co-mutations. In the multilevel logistic model by MN subtype, the presence of\n                    <jats:italic>PHF6<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>MUT<\/jats:italic>\n                    <\/jats:sup>\n                    (independent of variant allele frequency\u2009&gt;\u200920%) was shown to have a positive coefficient (adverse prognosis) in acute myeloid leukemia; in the remainder of MNs, the effect was not significant.\n                    <jats:italic>PHF6<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>MUT<\/jats:italic>\n                    <\/jats:sup>\n                    had a marginal and significant effect compared to\n                    <jats:italic>PHF6<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>wild\u2009\u2212\u2009type<\/jats:italic>\n                    <\/jats:sup>\n                    cases (HR\u2009=\u20091.02; 95% CI, 1.00-1.05;\n                    <jats:italic>P<\/jats:italic>\n                    \u2009=\u20090.039). There were no significant differences in time to blast transformation or time to next treatment depending on\n                    <jats:italic>PHF6<\/jats:italic>\n                    gene status. According to the results of most studies published to date (SR),\n                    <jats:italic>PHF6<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>MUT<\/jats:italic>\n                    <\/jats:sup>\n                    has a prognostic role in MNs; our results are consistent in terms of clinical outcomes, but these marginal effects should be interpreted with caution in the context of existing prognostic models given the limitations of the small sample size.\n                  <\/jats:p>","DOI":"10.1007\/s00277-026-06766-y","type":"journal-article","created":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T03:40:20Z","timestamp":1770176420000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["The effects of the PHF6 gene mutation on myeloid neoplasms. A single-center cohort underpinned by a systematic review of literature"],"prefix":"10.1007","volume":"105","author":[{"given":"Edwin U.","family":"Su\u00e1rez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos J.","family":"Atencia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio A.","family":"Torres-Saavedra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nazareth","family":"Conejero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roc\u00edo","family":"Salgado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mireia","family":"Atance-Pararisas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Perlado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Soto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan M.","family":"Alonso-Dom\u00ednguez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Arquero-Portero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"Mata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Jim\u00e9nez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. 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Ethics approval was obtained from Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"77"}}