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

Xiang-Lei Chen, Shan-Shan Zeng

Journal: Medicine 2024;103(42):e40222

PMID: 39432585

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.

Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

Address: Department of Hematology, Weifang Yidu Central Hospital, Qingzhou, China.
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