<i>NUP98</i> is rearranged in 5.0% of adult East Asian patients with AML

Abstract

NUP98, a nuclear pore complex component, functions as abnormal transcription factor in fusion proteins, and its partner genes in NUP98 fusions also possess transcription-related domains. 1 Acute myeloid leukemia (AML) with NUP98 rearrangement (NUP98r) is a newly introduced diagnostic entity in both the fifth edition of the World Health Organization (WHO) classification 2 and the 2022 International Consensus Classification (ICC) guidelines. 3In the WHO fifth edition classification, it is presented as a distinct diagnostic entity under the classification AML with NUP98r. 2 In the ICC 2022 guidelines, it is described under the category AML with other rare recurring translocations, specifically as AML with NUP98::NSD1, NUP98::KMD5A, and NUP98 and other partners. 3Notably, the ICC 2022 guidelines elaborate that these 3 diagnoses are predominantly observed in infants and children.In pediatric cases, NUP98 translocations have been reported in ~3.8% of patients and are associated with poor prognosis. 4Conversely, there is limited study concerning the prevalence and treatment outcomes related to NUP98r in adults.In this study, we aimed to comprehensively analyze the relatively understudied prevalence of NUP98r in adults and discuss potential therapeutic strategies.The institutional review board of Yonsei University Health System, Severance Hospital,