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

伴有NPM1、IDH2和SETD2突变的急性髓系白血病酷似急性早幼粒细胞白血病:病例报告及文献综述

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Abstract

RATIONALE: Acute 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 CONCERNS: A 70-year-old man was diagnosed with acute myeloid leukemia with NPM1, IDH2, and SETD2 mutations. DIAGNOSIS: APL-like acute myeloid leukemia with NPM1, IDH2, and SETD2 mutations was made. INTERVENTIONS: The 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. OUTCOMES: Due to economical constraints, the patient stopped further treatment, and outcome was dismal. LESSONS: The comprehensive evaluation of bone marrow morphology, immunology, cytogenetics, and molecular biology is essential for the accurate diagnosis of acute myeloid leukemia.

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