{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,30]],"date-time":"2025-12-30T23:00:06Z","timestamp":1767135606746,"version":"build-2238731810"},"reference-count":21,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T00:00:00Z","timestamp":1763596800000},"content-version":"vor","delay-in-days":19,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    CCAAT\/enhancer binding protein \u03b1 (C\/EBP\u03b1) mutations occur in about 4%\u201311% of AML patients and are typically associated with favorable prognosis. Here we present a case of AML with two distinct CEBP\u03b1 variants exhibiting an unexpectedly poor clinical outcome despite intensive chemotherapy and molecular remission at an early phase of treatment. Routine diagnostic work\u2010up included in\u2010house morphological assessment, flow cytometry, molecular and cytogenetics testing, and NGS\u2010based CNV testing. A 63\u2010year\u2010old male with a history of trigeminal neuralgia presented to the ER with fever associated with sore throat, cough and spontaneous bruising accompanied by leucocytosis (WBC, 52.4\u2009\u00d7\u200910\n                    <jats:sup>9<\/jats:sup>\n                    \/L) and thrombocytopenia (PLT, 26\u2009\u00d7\u200910\n                    <jats:sup>3<\/jats:sup>\n                    \/\u03bcL). Bone marrow evaluation revealed 95% blasts consistent with acute leukemia with flow cytometry confirming the diagnosis. Myeloid NGS panel revealed two distinct likely pathogenic CEBP\u03b1 variants: c.315del; p. F106Lfs*54 in TAD2 and c.941_946dupTGCTGG; p.V314_L315dup in the bZip domain. The patient received 7\u2009+\u20093 induction chemotherapy followed by HiDAC consolidation when he achieved remission. He subsequently relapsed with progressive disease accompanied by multiple complications and persistent MRD\u2010positivity despite multiple salvage regimens and SCT. CEBP\u03b1\u2010mutated AML presents a complex challenge to conventional chemotherapy and may require alternative treatment strategies including transplantation. Additionally, genomics technologies in AML have the potential to uncover known and novel gene variants.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.71462","type":"journal-article","created":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T06:38:52Z","timestamp":1763707132000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Aggressive Disease and Poor Clinical Outcome in\n                    <scp>CEBP\u03b1<\/scp>\n                    \u2010Mutated Acute Myeloid Leukemia Patient"],"prefix":"10.1002","volume":"13","author":[{"given":"Abdullah Attullah","family":"Alshammari","sequence":"first","affiliation":[{"name":"Department of Pathology and Clinical Laboratory Medicine, Hematology, Molecular Pathology Section King Fahad Medical City  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed O.","family":"AlSabbagh","sequence":"additional","affiliation":[{"name":"Department of Pathology and Clinical Laboratory Medicine, Hematology, Molecular Pathology Section King Fahad Medical City  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hasan M.","family":"Alshehri","sequence":"additional","affiliation":[{"name":"Department of Adult Hematology and Bone Marrow Transplantation King Fahad Medical City  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Azizah F.","family":"AlSwayyed","sequence":"additional","affiliation":[{"name":"Department of Pathology and Clinical Laboratory Medicine, Hematology, Molecular Pathology Section King Fahad Medical City  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faisal M.","family":"Alseraye","sequence":"additional","affiliation":[{"name":"Department of Pathology and Clinical Laboratory Medicine, Hematology, Molecular Pathology Section King Fahad Medical City  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9172-712X","authenticated-orcid":false,"given":"Abdul Ali","family":"Peer\u2010Zada","sequence":"additional","affiliation":[{"name":"Department of Pathology and Clinical Laboratory Medicine, Hematology, Molecular Pathology Section King Fahad Medical City  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,11,20]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-01-643569"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-022-01613-1"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.sjbs.2023.103710"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.8917"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0903840"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa074306"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2022.806137"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0888-7543(05)80276-9"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.thj.6200216"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.2.569"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-03-643544"},{"issue":"1","key":"e_1_2_13_13_1","first-page":"28","article-title":"Prognostic Relevance of NPM1, CEBPA, and FLT3 Mutations in Cytogenetically Normal Adult AML Patients","volume":"13","author":"Ningombam A.","year":"2023","journal-title":"American Journal of Blood Research"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa041331"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/85820"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.10185"},{"issue":"8","key":"e_1_2_13_17_1","first-page":"2682","article-title":"Validation of Mutated CEBPA bZIP as a Distinct Prognosis Entity in Acute Myeloid Leukemia: A Study by the Spanish PETHEMA Registry","volume":"109","author":"Torre E. P.","year":"2024","journal-title":"Haematologica"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2020009652"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2021004292"},{"issue":"1","key":"e_1_2_13_20_1","first-page":"87","article-title":"CEBPA Mutations in 4708 Patients With Acute Myeloid Leukemia: Differential Impact of bZIP and TAD Mutations on Outcome","volume":"139","author":"Taube F.","year":"2022","journal-title":"Blood, the Journal of the American Society of Hematology"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers17152494"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/22.25.5540"}],"updated-by":[{"DOI":"10.1002\/ccr3.71672","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2025,12,11]],"date-time":"2025-12-11T00:00:00Z","timestamp":1765411200000}}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.71462","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,9]],"date-time":"2025-12-09T05:53:37Z","timestamp":1765259617000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.71462"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11]]},"references-count":21,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["10.1002\/ccr3.71462"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.71462","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11]]},"assertion":[{"value":"2025-07-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-02","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-20","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e71462"}}