{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T04:59:59Z","timestamp":1785214799496,"version":"3.55.0"},"reference-count":15,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T00:00:00Z","timestamp":1785196800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:p>\n                    We report a 39-year-old male with MDS\/MPN with neutrophilia\u200b harboring a germline\n                    <jats:italic>DDX41<\/jats:italic>\n                    mutation. Next sequencing revealed mutational redundancy, wherein high-risk somatic lesions (\n                    <jats:italic>ASXL1<\/jats:italic>\n                    ,\n                    <jats:italic>SRSF2<\/jats:italic>\n                    ) may contribute to disease evolution in lieu of\u200b a detectable\n                    <jats:italic>DDX41<\/jats:italic>\n                    second hit. Despite a favorable karyotype, the patient relapsed early after the first allogeneic hematopoietic stem cell transplantation (\n                    <jats:italic>allo<\/jats:italic>\n                    -HSCT). He achieved remission via venetoclax\/azacitidine(VA) bridging followed by a second\n                    <jats:italic>allo<\/jats:italic>\n                    -HSCT. This case expands the phenotypic spectrum of\n                    <jats:italic>DDX41<\/jats:italic>\n                    and underscores that\n                    <jats:italic>allo<\/jats:italic>\n                    -HSCT remains the definitive curative strategy, irrespective of non-transplant response rates or conventional risk models.\n                  <\/jats:p>","DOI":"10.3389\/fonc.2026.1904341","type":"journal-article","created":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T04:25:38Z","timestamp":1785212738000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["A patient with myelodysplastic\/myeloproliferative neoplasm with neutrophilia (MDS\/MPN-N) harboring a DDX41 germline mutation: a case report"],"prefix":"10.3389","volume":"16","author":[{"given":"Xiaoyong","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Hematology, Shenzhen People\u2019s Hospital (The First Affiliated Hospital, Southern University of Science and Technology, The Second Clinical Medical College, Jinan University)","place":["Shenzhen, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun","family":"Feng","sequence":"additional","affiliation":[{"name":"Department of Hematology, Shenzhen People\u2019s Hospital (The First Affiliated Hospital, Southern University of Science and Technology, The Second Clinical Medical College, Jinan University)","place":["Shenzhen, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jihao","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Hematology, Shenzhen People\u2019s Hospital (The First Affiliated Hospital, Southern University of Science and Technology, The Second Clinical Medical College, Jinan University)","place":["Shenzhen, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueyan","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Medicine, The People\u2019s Hospital of Longhua","place":["Shenzhen, Guangdong, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,7,28]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"396","DOI":"10.3904\/kjim.2025.356","article-title":"Germline DDX41 mutations in myeloid neoplasms: a comprehensive review","volume":"41","author":"Lee","year":"2026","journal-title":"Korean J Intern Med"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-022-01613-1","article-title":"The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic\/dendritic neoplasms","volume":"36","author":"Khoury","year":"2022","journal-title":"Leukemia"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-024-02436-y","article-title":"Genome-first determination of the prevalence and penetrance of eight germline myeloid 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