{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T19:55:47Z","timestamp":1791230147760,"version":"4.1.0"},"reference-count":9,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,3,16]],"date-time":"2022-03-16T00:00:00Z","timestamp":1647388800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["eJHaem"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>SRP54<\/jats:italic> mutations have recently been implicated in congenital neutropenia (CN) and the in\u2010frame deletion, p.Thr117del, is the most common pathogenic mutation reported. The largest study of <jats:italic>SRP54<\/jats:italic>\u2010mutated CN to\u2010date followed 23 patients for a median of 15 years. No patients developed a hematologic malignancy in that study. Given the known risk of leukemia in other CNs it is crucial to know whether patients with <jats:italic>SRP54<\/jats:italic>\u2010mutated CN have an increased risk of leukemia. We report the first case of leukemia in a patient with <jats:italic>SRP54<\/jats:italic>\u2010mutated CN. A 15\u2010year\u2010old male with <jats:italic>SRP54<\/jats:italic>\u2010mutated CN (p.Thr117del) was diagnosed with acute myeloid leukemia with myelodysplasia\u2010related changes on a screening bone marrow evaluation. Next generation sequencing of the leukemia cells identified <jats:italic>CSF3R<\/jats:italic> and <jats:italic>RUNX1<\/jats:italic> mutations. These mutations commonly co\u2010exist in CN\u2010associated malignancies and suggest leukemogenesis in <jats:italic>SRP54<\/jats:italic>\u2010mutated CN may occur in a similar manner to other CNs. He was successfully treated with CPX\u2010351 followed by hematopoietic cell transplant (HCT) and remains in remission at a follow\u2010up time of 9 months. Although conclusions from this single report must be limited, this has potentially significant implications for both screening and treatment practices for these patients, including the role and timing of HCT.<\/jats:p>","DOI":"10.1002\/jha2.413","type":"journal-article","created":{"date-parts":[[2022,3,16]],"date-time":"2022-03-16T10:33:50Z","timestamp":1647426830000},"page":"521-525","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Acute myeloid leukemia in <i>SRP54<\/i>\u2010mutated congenital neutropenia"],"prefix":"10.1002","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3652-0003","authenticated-orcid":false,"given":"Anthony","family":"Sabulski","sequence":"first","affiliation":[{"name":"Division of Bone Marrow Transplantation and Immune Deficiency Cancer and Blood Diseases Institute Cincinnati Children's Hospital Medical Centre  Cincinnati Ohio USA"},{"name":"Department of Paediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David D.","family":"Grier","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"},{"name":"Division of Pathology Cincinnati Children's Hospital Medical Centre  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kasiani C.","family":"Myers","sequence":"additional","affiliation":[{"name":"Division of Bone Marrow Transplantation and Immune Deficiency Cancer and Blood Diseases Institute Cincinnati Children's Hospital Medical Centre  Cincinnati Ohio USA"},{"name":"Department of Paediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3137-6647","authenticated-orcid":false,"given":"Stella M.","family":"Davies","sequence":"additional","affiliation":[{"name":"Division of Bone Marrow Transplantation and Immune Deficiency Cancer and Blood Diseases Institute Cincinnati Children's Hospital Medical Centre  Cincinnati Ohio USA"},{"name":"Department of Paediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1934-2954","authenticated-orcid":false,"given":"Jeremy D.","family":"Rubinstein","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"},{"name":"Division of Oncology Cancer and Blood Diseases Institute Cincinnati Children's Hospital Medical Centre  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,3,16]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102017\u201012\u2010820308"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.14887"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277\u2010021\u201004518\u20108"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875\u2010018\u20100518\u20107"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI92876"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102016\u201003\u2010643544"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2017.77.6112"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102018\u201007\u2010859959"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102013\u201011\u2010538025"}],"container-title":["eJHaem"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jha2.413","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jha2.413","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jha2.413","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T10:53:46Z","timestamp":1692874426000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jha2.413"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,16]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022,5]]}},"alternative-id":["10.1002\/jha2.413"],"URL":"https:\/\/doi.org\/10.1002\/jha2.413","archive":["Portico"],"relation":{},"ISSN":["2688-6146","2688-6146"],"issn-type":[{"value":"2688-6146","type":"print"},{"value":"2688-6146","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3,16]]},"assertion":[{"value":"2022-01-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-02-27","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}