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Updated: Jul 12, 2026
Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
EWSR1-and FUS-rearranged acute leukemias: Clinicopathological and genomic characterization
Van Tuong Nguyen1, Mohammad Faizan Zahid2, Lina Han1
1Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Background:
EWSR1::FEV and FUS::FEV fusions, belonging to the FET-ETS family gene fusions, are extremely rare in acute leukemias. Our study aims to characterize the clinicopathologic and genomic profiles of this rare entity.
Methods:
Clinical, morphologic, immunophenotypic, cytogenetic, and genomic features were analyzed in three patients with leukemia harboring these rare fusions.
Results:
These leukemias were characterized by a female predominance with variable age of onset (a median age of 27 years), heterogenous leukemia phenotypes [acute myeloid leukemia/AML with EWSR1::FEV (n = 1) and mixed phenotype acute leukemia/MPAL (n = 2) with B/myeloid (EWSR1::FEV) and T/myeloid (FUS::FEV) phenotype], additional cytogenetic abnormalities (3/3) in addition to cryptic (2) or non-cryptic (1) fusion related chromosomal translocations, and co-occurring gene mutations in signaling pathway (PTPN11, 2/3) and cohesin complex (STAG2, 1/3). The prognosis of EWSR1::FEV and FUS::FEV leukemias is largely unknown; all three patients were alive with a median follow-up of 46 months, but one patient relapsed.
Conclusion:
This is the first case series study, including the first case description of FUS::FEV leukemia, to characterize clinicopathologic and genomic features of leukemias with EWSR1::FEV and FUS::FEV and provide insights into the leukemogenesis of this rare entity. Furthermore, we recommend inclusion of FET-ETS fusions in future acute leukemia classification schemes.
