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Acute myeloid leukemia (AML) with  NUP98  rearrangement (AML- NUP98 ) has been uncommonly reported in adults, and its incidence in our institution is ∼2.5%. There were four men and five women with a median age of 49 years, among which six cases were  de novo  AML and three were therapy-related. Five cases were AML with minimal differentiation or without maturation, followed by four with monocytic differentiation . NUP98  rearrangement was confirmed in all cases by FISH, and five cases showed cryptic translocations. The median overall survival (OS) was 13 months, shorter than that of AML- NPM1  ( p  &lt; 0.05), and similar to that in AML- KMT2A  patients in our institution. The unfavorable OS was further confirmed by comparing to AML patients in TCGA database. In conclusion, adult AML- NUP98  is associated with cryptic translocations and an unfavorable outcome. Our study suggests that incorporating the  NUP98  probe into AML FISH panels are warranted to improve clinical management.

Adult acute myeloid leukemia patients with NUP98 rearrangement have frequent cryptic translocations and unfavorable outcome