{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T21:52:24Z","timestamp":1792273944198,"version":"4.4.0"},"reference-count":40,"publisher":"American Society of Hematology","issue":"5","license":[{"start":{"date-parts":[[2022,11,2]],"date-time":"2022-11-02T00:00:00Z","timestamp":1667347200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,2,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Germ line DDX41 variants have been implicated in late-onset myeloid neoplasms (MNs). Despite an increasing number of publications, many important features of DDX41-mutated MNs remain to be elucidated. Here we performed a comprehensive characterization of DDX41-mutated MNs, enrolling a total of 346 patients with DDX41 pathogenic\/likely-pathogenic (P\/LP) germ line variants and\/or somatic mutations from 9082 MN patients, together with 525 first-degree relatives of DDX41-mutated and wild-type (WT) patients. P\/LP DDX41 germ line variants explained \u223c80% of known germ line predisposition to MNs in adults. These risk variants were 10-fold more enriched in Japanese MN cases (n\u00a0= 4461) compared with the general population of Japan (n\u00a0= 20\u2009238). This enrichment of DDX41 risk alleles was much more prominent in male than female (20.7 vs 5.0). P\/LP DDX41 variants conferred a large risk of developing MNs, which was negligible until 40 years of age but rapidly increased to 49% by 90 years of age. Patients with myelodysplastic syndromes (MDS) along with a DDX41-mutation rapidly progressed to acute myeloid leukemia (AML), which was however, confined to those having truncating variants. Comutation patterns at diagnosis and at progression to AML were substantially different between DDX41-mutated and WT cases, in which none of the comutations affected clinical outcomes. Even TP53 mutations made no exceptions and their dismal effect, including multihit allelic status, on survival was almost completely mitigated by the presence of DDX41 mutations. Finally, outcomes were not affected by the conventional risk stratifications including the revised\/molecular International Prognostic Scoring System. Our findings establish that MDS with DDX41-mutation defines a unique subtype of MNs that is distinct from other MNs.<\/jats:p>","DOI":"10.1182\/blood.2022018221","type":"journal-article","created":{"date-parts":[[2022,11,2]],"date-time":"2022-11-02T17:07:53Z","timestamp":1667408873000},"page":"534-549","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":156,"title":["Germ line\n                    <i>DDX41<\/i>\n                    mutations define a unique subtype of myeloid neoplasms"],"prefix":"10.1182","volume":"141","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5983-8578","authenticated-orcid":false,"given":"Hideki","family":"Makishima","sequence":"first","affiliation":[{"name":"1Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryunosuke","family":"Saiki","sequence":"additional","affiliation":[{"name":"1Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuhito","family":"Nannya","sequence":"additional","affiliation":[{"name":"1Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8512-4712","authenticated-orcid":false,"given":"Sophia","family":"Korotev","sequence":"additional","affiliation":[{"name":"2Departments of Medicine and Human Genetics, Section of Hematology\/Oncology, The University of Chicago, Chicago, IL"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6829-5544","authenticated-orcid":false,"given":"Carmelo","family":"Gurnari","sequence":"additional","affiliation":[{"name":"3Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH"},{"name":"4Department of Biomedicine and Prevention, Molecular Medicine and Applied Biotechnology, University of Rome Tor Vergata, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"June","family":"Takeda","sequence":"additional","affiliation":[{"name":"1Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukihide","family":"Momozawa","sequence":"additional","affiliation":[{"name":"5Laboratory for Genotyping Development, Center for Integrative Medical Sciences (IMS), RIKEN, Yokohama, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steve","family":"Best","sequence":"additional","affiliation":[{"name":"6King\u2019s College Hospital NHS Foundation Trust, and King\u2019s College London, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pramila","family":"Krishnamurthy","sequence":"additional","affiliation":[{"name":"6King\u2019s College Hospital NHS Foundation Trust, and King\u2019s College London, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuichi","family":"Yoshizato","sequence":"additional","affiliation":[{"name":"1Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiko","family":"Atsuta","sequence":"additional","affiliation":[{"name":"7Japanese Data Center for Hematopoietic Cell Transplantation, Nagakute, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yusuke","family":"Shiozawa","sequence":"additional","affiliation":[{"name":"1Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan"},{"name":"8Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuka","family":"Iijima-Yamashita","sequence":"additional","affiliation":[{"name":"9Department of Advanced Diagnosis, Clinical Research Center, Nagoya Medical Center, Nagoya, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenichi","family":"Yoshida","sequence":"additional","affiliation":[{"name":"1Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuichi","family":"Shiraishi","sequence":"additional","affiliation":[{"name":"10National Cancer Center Research Institute, Division of Genome Analysis Platform Development, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasunobu","family":"Nagata","sequence":"additional","affiliation":[{"name":"1Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4893-5414","authenticated-orcid":false,"given":"Nobuyuki","family":"Kakiuchi","sequence":"additional","affiliation":[{"name":"1Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makoto","family":"Onizuka","sequence":"additional","affiliation":[{"name":"11Department of Hematology and Oncology, Tokai University School of Medicine, Isehara, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenichi","family":"Chiba","sequence":"additional","affiliation":[{"name":"10National Cancer Center Research Institute, Division of Genome Analysis Platform Development, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9634-8922","authenticated-orcid":false,"given":"Hiroko","family":"Tanaka","sequence":"additional","affiliation":[{"name":"12Laboratory of Sequence Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayana","family":"Kon","sequence":"additional","affiliation":[{"name":"1Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8472-6164","authenticated-orcid":false,"given":"Yotaro","family":"Ochi","sequence":"additional","affiliation":[{"name":"1Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6420-2555","authenticated-orcid":false,"given":"Masahiro M.","family":"Nakagawa","sequence":"additional","affiliation":[{"name":"1Department of Pathology and Tumor Biology, Kyoto University, Kyoto, 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Nagasaki, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasushi","family":"Miyazaki","sequence":"additional","affiliation":[{"name":"13Department of Hematology, Atomic Bomb Disease and Hibakusha Medicine Unit, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masashi","family":"Sanada","sequence":"additional","affiliation":[{"name":"9Department of Advanced Diagnosis, Clinical Research Center, Nagoya Medical Center, Nagoya, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takayuki","family":"Ishikawa","sequence":"additional","affiliation":[{"name":"14Department of Hematology, Kobe City Medical Center General Hospital, Kobe, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7803-7338","authenticated-orcid":false,"given":"Shigeru","family":"Chiba","sequence":"additional","affiliation":[{"name":"15Department of 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