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Aggressive Disease and Poor Clinical Outcome in CEBPα ‐Mutated Acute Myeloid Leukemia Patient

Year: 2025

Type: article

Abstract: ABSTRACT CCAAT/enhancer binding protein α (C/EBPα) mutations occur in about 4%–11% of AML patients and are typically associated with favorable prognosis. Here we present a case of AML with two distinct CEBPα variants exhibiting an unexpectedly poor clinical outcome despite intensive chemotherapy and molecular remission at an early phase of treatment. Routine diagnostic work‐up included in‐house morphological assessment, flow cytometry, molecular and cytogenetics testing, and NGS‐based CNV testing. A 63‐year‐old 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 × 10 9 /L) and thrombocytopenia (PLT, 26 × 10 3 /μL). Bone marrow evaluation revealed 95% blasts consistent with acute leukemia with flow cytometry confirming the diagnosis. Myeloid NGS panel revealed two distinct likely pathogenic CEBPα variants: c.315del; p. F106Lfs*54 in TAD2 and c.941_946dupTGCTGG; p.V314_L315dup in the bZip domain. The patient received 7 + 3 induction chemotherapy followed by HiDAC consolidation when he achieved remission. He subsequently relapsed with progressive disease accompanied by multiple complications and persistent MRD‐positivity despite multiple salvage regimens and SCT. CEBPα‐mutated 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.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.71462

Authors: Abdullah Attullah Alshammari, Mohammed O. AlSabbagh, Hasan M. Alshehri, Azizah F. AlSwayyed, Faisal M. Alseraye, Abdul Ali Peer‐Zada

Institution: King Fahd Medical City

Language: English

Topic: Acute Myeloid Leukemia Research

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,820