{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T19:36:15Z","timestamp":1791401775180,"version":"4.3.3"},"reference-count":31,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T00:00:00Z","timestamp":1693785600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100005189","name":"Leukemia and Lymphoma Society","doi-asserted-by":"publisher","award":["Scholar Research Award (CDD)"],"award-info":[{"award-number":["Scholar Research Award (CDD)"]}],"id":[{"id":"10.13039\/100005189","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:italic>DDX41<\/jats:italic>\n                    is the most frequently mutated gene in myeloid neoplasms associated with germline predisposition including myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). We analyzed 3795 patients with myeloid neoplasms and identified 151 (4%) with\n                    <jats:italic>DDX41<\/jats:italic>\n                    variants and a diagnosis of AML (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200996), MDS (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200952), and chronic myelomonocytic leukemia (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20093). The most frequent\n                    <jats:italic>DDX41<\/jats:italic>\n                    variants were the somatic variant p.R525H, followed by the germline variants p.M1I and p.D140fs. Most neoplasms had a normal karyotype (59%) and the most frequent co\u2010mutations were\n                    <jats:italic>TP53<\/jats:italic>\n                    (16%) and\n                    <jats:italic>ASXL1<\/jats:italic>\n                    (15%). 30% of patients had no concomitant mutations besides\n                    <jats:italic>DDX41<\/jats:italic>\n                    mutation. Patients with myeloid malignancies and\n                    <jats:italic>DDX41<\/jats:italic>\n                    variants responded well to therapy, with an overall response rate for patients with treatment na\u00efve AML and MDS of 87% and 84%, respectively. The median overall survival (mOS) of patients with treatment\u2010na\u00efve AML or MDS was 49 and 71\u2009months, respectively. Patients with AML treated with low\u2010intensity regimens including venetoclax had an improved survival (2\u2010year OS 91% vs. 60%,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u2009.02) and lower cumulative incidence of relapse compared to those treated without venetoclax (10% vs. 56%,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u2009.03). In the 33% of patients receiving hematopoietic stem cell transplantation, the 2\u2010year OS was 80% and 85% for AML and MDS, respectively.\n                  <\/jats:p>","DOI":"10.1002\/ajh.27070","type":"journal-article","created":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T14:10:09Z","timestamp":1693836609000},"page":"1780-1790","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":58,"title":["Characteristics and clinical outcomes of patients with myeloid malignancies and\n                    <scp>\n                      <i>DDX41<\/i>\n                    <\/scp>\n                    variants"],"prefix":"10.1002","volume":"98","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6085-2745","authenticated-orcid":false,"given":"Alex","family":"Bataller","sequence":"first","affiliation":[{"name":"Department of Leukemia The University of Texas MD Anderson Cancer Center  Houston Texas 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