{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T20:27:24Z","timestamp":1770755244005,"version":"3.50.0"},"reference-count":27,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2022,6,30]],"date-time":"2022-06-30T00:00:00Z","timestamp":1656547200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Celgene","award":["investigator-initiated trial"],"award-info":[{"award-number":["investigator-initiated trial"]}]},{"name":"Celgene","award":["LA\/P\/0082\/2020"],"award-info":[{"award-number":["LA\/P\/0082\/2020"]}]},{"name":"Celgene","award":["101057250-CANCERNA"],"award-info":[{"award-number":["101057250-CANCERNA"]}]},{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e Tecnologia, Portugal, to Instituto de Medicina Molecular Jo\u00e3o Lobo Antunes","doi-asserted-by":"publisher","award":["investigator-initiated trial"],"award-info":[{"award-number":["investigator-initiated trial"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e Tecnologia, Portugal, to Instituto de Medicina Molecular Jo\u00e3o Lobo Antunes","doi-asserted-by":"publisher","award":["LA\/P\/0082\/2020"],"award-info":[{"award-number":["LA\/P\/0082\/2020"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e Tecnologia, Portugal, to Instituto de Medicina Molecular Jo\u00e3o Lobo Antunes","doi-asserted-by":"publisher","award":["101057250-CANCERNA"],"award-info":[{"award-number":["101057250-CANCERNA"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Horizon Europe","award":["investigator-initiated trial"],"award-info":[{"award-number":["investigator-initiated trial"]}]},{"name":"Horizon Europe","award":["LA\/P\/0082\/2020"],"award-info":[{"award-number":["LA\/P\/0082\/2020"]}]},{"name":"Horizon Europe","award":["101057250-CANCERNA"],"award-info":[{"award-number":["101057250-CANCERNA"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Although mutation profiling of defined genes is recommended for classification of acute myeloid leukemia (AML) patients, screening of targeted gene panels using next-generation sequencing (NGS) is not always routinely used as standard of care. The objective of this study was to prospectively assess whether extended molecular monitoring using NGS adds clinical value for risk assessment in real-world AML patients. We analyzed a cohort of 268 newly diagnosed AML patients. We compared the prognostic stratification of our study population according to the European LeukemiaNet recommendations, before and after the incorporation of the extended mutational profile information obtained by NGS. Without access to NGS data, 63 patients (23%) failed to be stratified into risk groups. After NGS data, only 27 patients (10%) failed risk stratification. Another 33 patients were re-classified as adverse-risk patients once the NGS data was incorporated. In total, access to NGS data refined risk assessment for 62 patients (23%). We further compared clinical outcomes with prognostic stratification, and observed unexpected outcomes associated with FLT3 mutations. In conclusion, this study demonstrates the prognostic utility of screening AML patients for multiple gene mutations by NGS and underscores the need for further studies to refine the current risk classification criteria.<\/jats:p>","DOI":"10.3390\/cancers14133236","type":"journal-article","created":{"date-parts":[[2022,6,30]],"date-time":"2022-06-30T20:53:02Z","timestamp":1656622382000},"page":"3236","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Screening a Targeted Panel of Genes by Next-Generation Sequencing Improves Risk Stratification in Real World Patients with Acute Myeloid Leukemia"],"prefix":"10.3390","volume":"14","author":[{"given":"S\u00f3nia","family":"Matos","sequence":"first","affiliation":[{"name":"GenoMed-Diagn\u00f3sticos de Medicina Molecular SA, 1649-028 Lisboa, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7925-270X","authenticated-orcid":false,"given":"Paulo","family":"Bernardo","sequence":"additional","affiliation":[{"name":"Instituto de Medicina Molecular Jo\u00e3o Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, 1649-028 Lisboa, Portugal"},{"name":"Servi\u00e7o de Hematologia Cl\u00ednica, Hospital da Luz de Lisboa, 1500-650 Lisboa, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8779-8665","authenticated-orcid":false,"given":"Susana","family":"Esteves","sequence":"additional","affiliation":[{"name":"Unidade de Investiga\u00e7\u00e3o Cl\u00ednica, Instituto Portugu\u00eas de Oncologia de Lisboa, Francisco Gentil, 1099-023 Lisboa, Portugal"}]},{"given":"Aida","family":"Botelho de Sousa","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Hematologia, Centro Hospitalar Lisboa Central-Hospital de St. Ant\u00f3nio dos Capuchos, 1150-315 Lisboa, Portugal"}]},{"given":"Marcos","family":"Lemos","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Hematologia, Centro Hospitalar Lisboa Central-Hospital de St. Ant\u00f3nio dos Capuchos, 1150-315 Lisboa, Portugal"}]},{"given":"Patr\u00edcia","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Hematologia, Centro Hospitalar Lisboa Central-Hospital de St. Ant\u00f3nio dos Capuchos, 1150-315 Lisboa, Portugal"}]},{"given":"Madalena","family":"Silva","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Hematologia, Centro Hospitalar Lisboa Central-Hospital de St. Ant\u00f3nio dos Capuchos, 1150-315 Lisboa, Portugal"}]},{"given":"Albertina","family":"Nunes","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Hematologia, Instituto Portugu\u00eas de Oncologia de Lisboa, Francisco Gentil, 1099-023 Lisboa, Portugal"}]},{"given":"Joana","family":"Lobato","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Hematologia, Instituto Portugu\u00eas de Oncologia de Lisboa, Francisco Gentil, 1099-023 Lisboa, Portugal"}]},{"given":"Maria de Jesus","family":"Frade","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Hematologia, Instituto Portugu\u00eas de Oncologia de Lisboa, Francisco Gentil, 1099-023 Lisboa, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6993-2450","authenticated-orcid":false,"given":"Maria Gomes","family":"da Silva","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Hematologia, Instituto Portugu\u00eas de Oncologia de Lisboa, Francisco Gentil, 1099-023 Lisboa, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6316-8789","authenticated-orcid":false,"given":"S\u00e9rgio","family":"Chacim","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Hematologia, Instituto Portugu\u00eas de Oncologia do Porto, 4200-072 Porto, Portugal"}]},{"given":"Jos\u00e9","family":"Mariz","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Hematologia, Instituto Portugu\u00eas de Oncologia do Porto, 4200-072 Porto, Portugal"}]},{"given":"Gra\u00e7a","family":"Esteves","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Hematologia e Transplanta\u00e7\u00e3o de Medula, Centro Hospitalar Lisboa Norte-Hospital de Santa Maria, 1649-028 Lisboa, Portugal"}]},{"given":"Jo\u00e3o","family":"Raposo","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Hematologia e Transplanta\u00e7\u00e3o de Medula, Centro Hospitalar Lisboa Norte-Hospital de Santa Maria, 1649-028 Lisboa, Portugal"}]},{"given":"Ana","family":"Espadana","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Hematologia Cl\u00ednica, Centro Hospitalar e Universit\u00e1rio de Coimbra, 3004-561 Coimbra, Portugal"}]},{"given":"Jos\u00e9","family":"Carda","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Hematologia Cl\u00ednica, Centro Hospitalar e Universit\u00e1rio de Coimbra, 3004-561 Coimbra, Portugal"}]},{"given":"Pedro","family":"Barbosa","sequence":"additional","affiliation":[{"name":"Instituto de Medicina Molecular Jo\u00e3o Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, 1649-028 Lisboa, Portugal"}]},{"given":"V\u00e2nia","family":"Martins","sequence":"additional","affiliation":[{"name":"GenoMed-Diagn\u00f3sticos de Medicina Molecular SA, 1649-028 Lisboa, Portugal"}]},{"given":"Maria","family":"Carmo-Fonseca","sequence":"additional","affiliation":[{"name":"Instituto de Medicina Molecular Jo\u00e3o Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, 1649-028 Lisboa, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6359-7233","authenticated-orcid":false,"given":"Joana","family":"Desterro","sequence":"additional","affiliation":[{"name":"Instituto de Medicina Molecular Jo\u00e3o Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, 1649-028 Lisboa, Portugal"},{"name":"Servi\u00e7o de Hematologia, Instituto Portugu\u00eas de Oncologia de Lisboa, Francisco Gentil, 1099-023 Lisboa, Portugal"}]}],"member":"1968","published-online":{"date-parts":[[2022,6,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1056\/NEJM199909303411407","article-title":"Acute Myeloid Leukemia","volume":"341","author":"Weisdorf","year":"1999","journal-title":"N. 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Med."}],"container-title":["Cancers"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2072-6694\/14\/13\/3236\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T23:41:23Z","timestamp":1760139683000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2072-6694\/14\/13\/3236"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,30]]},"references-count":27,"journal-issue":{"issue":"13","published-online":{"date-parts":[[2022,7]]}},"alternative-id":["cancers14133236"],"URL":"https:\/\/doi.org\/10.3390\/cancers14133236","relation":{},"ISSN":["2072-6694"],"issn-type":[{"value":"2072-6694","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,30]]}}}