{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T04:25:05Z","timestamp":1791433505099,"version":"4.3.3"},"reference-count":40,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T00:00:00Z","timestamp":1776988800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Background: Acute myeloid leukemia with extramedullary disease (EMD-AML) represents a distinct clinical entity associated with diagnostic and therapeutic challenges, and its prognostic significance remains uncertain. Methods: A retrospective study of 617 adults with newly diagnosed AML (2005\u20132018) was conducted, analyzing 246 patients with EMD-AML and 371 without EMD involvement. The clinical characteristics and treatment outcomes were analyzed. Propensity score matching (PSM) was applied to adjust for baseline confounders. Results: Patients with isolated EMD-AML and those with concurrent bone marrow involvement had comparable clinical outcomes. NPM1 mutations (48% vs. 25%, p = 0.0002) and t(8;21) translocation (23.2% vs. 3.7%, p &lt; 0.001) were enriched in the EMD-AML cohort. After PSM, EMD-AML patients achieved a higher overall response rate compared with non-EMD-AML (88.1% vs. 72.0%, p = 0.0002) but experienced significantly higher relapse rates (35.7% vs. 15.5%, p &lt; 0.0001). Despite the achievement of a higher response rate, EMD-AML was associated with shorter median overall survival (OS) (14.2 vs. 64.1 months, p &lt; 0.0001) and event-free survival (EFS) (9.5 vs. 55.9 months, p &lt; 0.0001). In a multivariable analysis, EMD-AML remained independently associated with worse OS and EFS (OS HR 1.79, p = 0.01; EFS HR 1.95, p = 0.001). Allogeneic hematopoietic stem cell transplantation did not confer a survival advantage in EMD-AML patients. Conclusions: EMD-AML, whether isolated or concurrent with bone marrow disease, represents a high-risk entity characterized by poor long-term outcomes despite strong initial response rates. Obtaining tissue biopsies for molecular profiling may help improve risk stratification, identify targetable mutations and guide individualized treatment.<\/jats:p>","DOI":"10.3390\/cancers18091362","type":"journal-article","created":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T14:28:23Z","timestamp":1777040903000},"page":"1362","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Extramedullary AML: Clinical and Molecular Features"],"prefix":"10.3390","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8525-5752","authenticated-orcid":false,"given":"Yael","family":"Morgenstern","sequence":"first","affiliation":[{"name":"Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network, Toronto, ON M5G 1X6, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Andrews","sequence":"additional","affiliation":[{"name":"Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network, Toronto, ON M5G 1X6, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4613-3680","authenticated-orcid":false,"given":"Eshetu G.","family":"Atenafu","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, University Health Network, Toronto, ON M5G 1X6, Canada"},{"name":"Division of Biostatistics, University of Toronto, Toronto, ON M5S 3E3, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Chan","sequence":"additional","affiliation":[{"name":"Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network, Toronto, ON M5G 1X6, Canada"},{"name":"Department of Medicine, Division of Hematology, University of Toronto, Toronto, ON M5S 3H2, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vikas","family":"Gupta","sequence":"additional","affiliation":[{"name":"Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network, Toronto, ON M5G 1X6, Canada"},{"name":"Department of Medicine, Division of Hematology, University of Toronto, Toronto, ON M5S 3H2, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark D.","family":"Minden","sequence":"additional","affiliation":[{"name":"Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network, Toronto, ON M5G 1X6, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dawn","family":"Maze","sequence":"additional","affiliation":[{"name":"Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network, Toronto, ON M5G 1X6, Canada"},{"name":"Department of Medicine, Division of Hematology, University of Toronto, Toronto, ON M5S 3H2, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aaron","family":"Schimmer","sequence":"additional","affiliation":[{"name":"Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network, Toronto, ON M5G 1X6, Canada"},{"name":"Department of Medicine, Division of Hematology, University of Toronto, Toronto, ON M5S 3H2, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andre","family":"Schuh","sequence":"additional","affiliation":[{"name":"Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network, Toronto, ON M5G 1X6, Canada"},{"name":"Department of Medicine, Division of Hematology, University of Toronto, Toronto, ON M5S 3H2, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2572-9952","authenticated-orcid":false,"given":"Karen","family":"Yee","sequence":"additional","affiliation":[{"name":"Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network, Toronto, ON M5G 1X6, Canada"},{"name":"Department of Medicine, Division of Hematology, University of Toronto, Toronto, ON M5S 3H2, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9030-8583","authenticated-orcid":false,"given":"Hassan","family":"Sibai","sequence":"additional","affiliation":[{"name":"Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network, Toronto, ON M5G 1X6, Canada"},{"name":"Department of Medicine, Division of Hematology, University of Toronto, Toronto, ON M5S 3H2, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,4,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"102894","DOI":"10.1016\/j.amsu.2021.102894","article-title":"Extramedullary acute myeloid leukemia (eAML): Retrospective single center cohort study on clinico-pathological, molecular analysis and survival outcomes","volume":"72","author":"Halahleh","year":"2021","journal-title":"Ann. 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