• Medicine · Oct 2024

    Review Case Reports

    Acute myeloid leukemia with NPM1, IDH2, and SETD2 mutations mimicking acute promyelocytic leukemia: A case report and literature review.

    • Xiang-Lei Chen and Shan-Shan Zeng.
    • Department of Hematology, Weifang Yidu Central Hospital, Qingzhou, China.
    • Medicine (Baltimore). 2024 Oct 18; 103 (42): e40222e40222.

    RationaleAcute myeloid leukemia with NPM1, IDH2, and SETD2 mutations can mimic acute promyelocytic leukemia (APL) and poses a challenge for the early and accurate differentiation and diagnosis of APL with PML::RARA.Patient ConcernsA 70-year-old man was diagnosed with acute myeloid leukemia with NPM1, IDH2, and SETD2 mutations.DiagnosisAPL-like acute myeloid leukemia with NPM1, IDH2, and SETD2 mutations was made.InterventionsThe patient received all-trans retinoic acid 20 mg 3 times a day for 22 days, azacitidine 100 mg subcutaneously once daily for 7 days, and venetoclax 100 mg once daily for 12 days.OutcomesDue to economical constraints, the patient stopped further treatment, and outcome was dismal.LessonsThe comprehensive evaluation of bone marrow morphology, immunology, cytogenetics, and molecular biology is essential for the accurate diagnosis of acute myeloid leukemia.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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