title: NUP214fusion genes in acute leukemia (Review).
abstract: Nucleoporin 214 (NUP214), previously termedCAN,is required for cell cycle and nucleocytoplasmic transport. The genetic features and clinical implications of fiveNUP214-associated fusion genes are described in this review.SET-NUP214was most frequently observed in T-cell acute lymphoblastic leukemia (T-ALL), concomitant with the elevated expression ofHOXAcluster genes. Furthermore, the fusion transcript may be regarded as a potential minimal residual disease marker forSET-NUP214-positive patients. Episomal amplifications ofNUP214-ABL1are specific to T-ALL patients. TheNUP214-ABL1gene is observed in ~6% of T-ALL, in children and adults. Targeted tyrosine kinase inhibitors plus standard chemotherapy appear to present a promising treatment strategy.DEK-NUP214is formed by the fusion of exon 2 ofDEKand exon 6 ofNUP214. Achieving molecular negativity ofDEK-NUP214is of great importance for individual management.SQSTM1-NUP214andNUP214-XKR3were only identified in one T-ALL patient and one cell line, respectively. TheNUP214fusions have significant diagnostic and therapeutic implications for leukemia patients. AdditionalNUP214-associated fusions require identification in future studies.
authors.affiliation: Department of Hematology and Oncology, The First Affiliated Hospital of the People's Liberation Army General Hospital, Beijing 100048, P.R. China.
authors.forename: Min-Hang
authors.initials: MH
authors.lastname: Zhou
authors.affiliation: Department of Hematology and Oncology, The First Affiliated Hospital of the People's Liberation Army General Hospital, Beijing 100048, P.R. China.
authors.forename: Qing-Ming
authors.initials: QM
authors.lastname: Yang
keywords: NUP214; acute lymphoblastic leukemia; acute myeloid leukemia; fusion gene