{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T21:52:44Z","timestamp":1781646764992,"version":"3.54.5"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T00:00:00Z","timestamp":1774569600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T00:00:00Z","timestamp":1778025600000},"content-version":"vor","delay-in-days":40,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Discov Onc"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    A 62-year-old male presented with fatigue, dizziness, palpitations, and pancytopenia, subsequently diagnosed with myelodysplastic neoplasm (MDS) with increased blasts 2, alongside mutations in\n                    <jats:italic>DDX41<\/jats:italic>\n                    and\n                    <jats:italic>TP53<\/jats:italic>\n                    via a targeted 521-gene hematologic disorder panel. Treatment commenced with azacitidine and supportive care, leading to transient complete remission, and the two related mutations were eliminated. However, disease relapse occurred with the emergence of a novel\n                    <jats:italic>SETBP1<\/jats:italic>\n                    mutation, accompanied by two mutations detected at diagnosis. Despite adjustments in the treatment regimen, such as adding daratumumab, the patient\u2019s disease progressed to secondary acute myeloid leukemia (sAML) with increased variant allele frequencies in three mutations. This indicated the novel\n                    <jats:italic>SETBP1<\/jats:italic>\n                    mutation might be associated with AML transformation. Ultimately, after discontinuing treatment, the patient passed away. This case indicates three co-mutations, including\n                    <jats:italic>SETBP1<\/jats:italic>\n                    ,\n                    <jats:italic>DDX41<\/jats:italic>\n                    and\n                    <jats:italic>TP53<\/jats:italic>\n                    , may led to rapid disease progression, and underscores the challenges in managing MDS progressing to sAML, highlighting the prognostic value of genetic mutations detected through multiple genetic tests and the need for further treatment strategies.\n                  <\/jats:p>","DOI":"10.1007\/s12672-026-04863-y","type":"journal-article","created":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T10:48:43Z","timestamp":1774608523000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Case report: Dynamic genetic profiles reveal a patient with myelodysplastic neoplasm transforming into acute myeloid leukemia"],"prefix":"10.1007","volume":"17","author":[{"given":"Guiying","family":"Guo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huanchen","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meng","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lixia","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiayue","family":"Qin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiejun","family":"Gong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,3,27]]},"reference":[{"issue":"19","key":"4863_CR1","doi-asserted-by":"publisher","first-page":"1872","DOI":"10.1056\/NEJMra0902908","volume":"361","author":"A Tefferi","year":"2009","unstructured":"Tefferi A, Vardiman JW. Myelodysplastic syndromes. N Engl J Med. 2009;361(19):1872\u201385.","journal-title":"N Engl J Med"},{"issue":"11","key":"4863_CR2","doi-asserted-by":"publisher","first-page":"1223","DOI":"10.1200\/JCO.20.01659","volume":"39","author":"M Bersanelli","year":"2021","unstructured":"Bersanelli M, et al. Classification and personalized prognostic assessment on the basis of clinical and genomic features in myelodysplastic syndromes. J Clin Oncol. 2021;39(11):1223\u201333.","journal-title":"J Clin Oncol"},{"issue":"6","key":"4863_CR3","doi-asserted-by":"publisher","first-page":"536","DOI":"10.1056\/NEJMoa1611604","volume":"376","author":"RC Lindsley","year":"2017","unstructured":"Lindsley RC, et al. Prognostic mutations in myelodysplastic syndrome after stem-cell transplantation. 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The study was conducted in accordance with the local legislation and institutional requirements. Informed written consent was obtained from the patient for the study conducted.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from family members of the patient for the publication of this case report, as the patient has deceased.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"701"}}