Abstract
RATIONALE: Pure erythroid leukemia (PEL) is a rare and highly aggressive subtype of acute myeloid leukemia. Herein, a rare case of de novo PEL with rapid progression harboring EZH2 and TP53 frameshift mutations was reported. PATIENT CONCERNS: A 57-year-old male presented with a 3-week history of pancytopenia and peripheral blasts (9%). He also had a 6-day history of hematemesis. DIAGNOSES: The case was diagnosed as PEL. Bone marrow examination, immunophenotype, gene mutation analysis, and karyotyping confirmed the diagnosis of PEL. INTERVENTIONS: Early in his illness, the patient received acid suppression therapy, gastric protection, hemostatic treatment, and transfusions of red blood cell suspension and platelet concentrates at a local hospital. He was later transferred to our hospital, where the diagnosis of PEL was made, and induction chemotherapy was initiated. OUTCOMES: Following chemotherapy, the patient developed granulocytopenia, severe anemia, and thrombocytopenia. He required multiple transfusions of apheresis platelets and red blood cell suspensions for symptomatic relief. However, due to financial concerns, the patient discontinued treatment and passed away 20 days after starting therapy. LESSONS: Due to the unclear pathogenesis of PEL and the lack of targeted therapeutic drugs, the prognosis is inferior. Further research into the signaling pathways regulated by the identified mutations and their potential as therapeutic targets is essential to improve the prognosis of this aggressive form of leukemia.