Adult Acute Myeloid Leukemia with NUP98 Rearrangement: An Underrecognized Entity, Particularly in East Asian Populations
Year: 2025
Type: article
Abstract: Acute myeloid leukemia (AML) with NUP98 rearrangement is recognized as a distinct molecular subtype in the WHO 5th edition and International Consensus Classification (ICC) 2022 guidelines, associated with poor prognosis.Despite its rarity, emerging evidence indicates that NUP98 rearrangements may be more prevalent in East Asian populations, potentially owing to improved detection through expanded sequencing approaches.Owing to their cryptic nature and diverse fusion partners, these rearrangements often go undetected by conventional cytogenetic and targeted RNA assays.Comprehensive RNA and high-depth DNA sequencing are essential for accurate diagnosis, molecular characterization, and minimal residual disease monitoring.The frequent co-occurrence with FLT3-ITD or WT1 mutations highlights the importance of integrative genomic profiling.Broader adoption of next-generation sequencing (NGS) may facilitate early detection, support risk-adapted treatment, and improve outcomes in patients with NUP98-rearranged AML.
Source: Laboratory Medicine Online
Authors: Hyun-Jun Nam, Namsoo Kim
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W4414479000