研究动态
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具有 NPM1、IDH2 和 SETD2 突变的急性髓系白血病模仿急性早幼粒细胞白血病:病例报告和文献综述。

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

发表日期:2024 Oct 18
作者: Xiang-Lei Chen, Shan-Shan Zeng
来源: Bone & Joint Journal

摘要:

具有 NPM1、IDH2 和 SETD2 突变的急性髓系白血病可以模仿急性早幼粒细胞白血病 (APL),这对 APL 与 PML::RARA 的早期准确鉴别诊断提出了挑战。一名 70 岁的男性被诊断为急性髓系白血病具有NPM1、IDH2和SETD2突变的髓性白血病。制作具有NPM1、IDH2和SETD2突变的APL样急性髓性白血病。患者接受全反式维A酸20mg,每天3次,持续22天,阿扎胞苷100mg皮下注射每日一次,连续7天,维奈托克100 mg,每日一次,连续12天。由于经济拮据,患者停止进一步治疗,预后不佳。骨髓形态、免疫学、细胞遗传学和分子生物学的综合评估至关重要。急性髓系白血病的准确诊断。版权所有 © 2024 作者。由 Wolters Kluwer Health, Inc. 出版
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.A 70-year-old man was diagnosed with acute myeloid leukemia with NPM1, IDH2, and SETD2 mutations.APL-like acute myeloid leukemia with NPM1, IDH2, and SETD2 mutations was made.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.Due to economical constraints, the patient stopped further treatment, and outcome was dismal.The 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.