{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T04:17:11Z","timestamp":1781237831547,"version":"3.54.1"},"reference-count":37,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,3,4]],"date-time":"2025-03-04T00:00:00Z","timestamp":1741046400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Germline variants in <jats:italic>DDX41<\/jats:italic> (<jats:italic>DDX41<\/jats:italic><jats:sup>MT<\/jats:sup>\u2010germline predisposition syndrome [GPS]) are associated with predisposition to haematological malignancies (HM), including lymphoid and myeloid neoplasms (MN). We retrospectively analysed the clinical and molecular features of 195 patients diagnosed and treated at Mayo Clinic with <jats:italic>DDX41<\/jats:italic><jats:sup>MT<\/jats:sup>\u2010GPS. Patients with germline <jats:italic>DDX41<\/jats:italic> pathogenic variants (42.3%) and variants of unknown significance (VUS, 57.6%) were included. The median age was 68.6\u2009years (16.2\u201393.4). Ninety\u2010two per cent were Caucasian, 64.1% were male and 30.8% had a family history of HM. There were 92 distinct germline variants among our cohort, and the most common was p.Met1? (15.9%), followed by p.Asp140Glyfs*2 (9.2%). Clinical diagnoses included asymptomatic carriers (10.2%), clonal cytopenia of undetermined significance (CCUS, 6.1%), myeloproliferative neoplasms (6.7%), myelodysplastic syndrome (40.5%), acute myeloid leukaemia (20.5%), lymphoid neoplasms (9.2%), plasma cell dyscrasias (6.1%) and solid tumours (22.5%). Patients with MN were older (median age 70 vs. 63.5\u2009years) and more likely to be male (M:F ratio 2.3 vs. 1.0) and most patients (78.8%) with MN had a normal karyotype. The most common somatic variants involved <jats:italic>DDX41<\/jats:italic> (34.4%), followed by <jats:italic>TET2<\/jats:italic> (11.2%), <jats:italic>DNMT3A<\/jats:italic> (9.6%) and <jats:italic>ASXL1<\/jats:italic> (9.2%). In summary, we have comprehensively described the spectrum of clinical phenotypes within the Mayo Clinic <jats:italic>DDX41<\/jats:italic><jats:sup>MT<\/jats:sup>\u2010GPS cohort.<\/jats:p>","DOI":"10.1111\/bjh.20018","type":"journal-article","created":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T05:07:27Z","timestamp":1741756047000},"page":"1109-1120","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Prevalence of cytopenia(s) and somatic variants in patients with <i>DDX41<\/i> mutant germline predisposition syndrome"],"prefix":"10.1111","volume":"206","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7325-8454","authenticated-orcid":false,"given":"Yael","family":"Kusne","sequence":"first","affiliation":[{"name":"Division of Hematology\/Oncology Mayo Clinic  Scottsdale Arizona 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