Nup214, a component of the nuclear pore complex (NPC), is crucial for protein and mRNA nuclear export [1]. It is involved in pathways related to nuclear-cytoplasmic transport, which is essential for normal cellular function and gene expression regulation.

Chromosomal translocations of Nup214 are recurrent in acute leukemia. SET-NUP214 and DEK-NUP214 fusion proteins, resulting from such translocations, disrupt protein nuclear export by inhibiting the nuclear export receptor CRM1, leading to aberrant accumulation of CRM1 protein cargoes in the nucleus [1]. SET-NUP214 is mainly associated with acute lymphoblastic leukemia (ALL), while DEK-NUP214 is exclusive to acute myeloid leukemia (AML), suggesting different leukemogenic driver mechanisms [1]. Mouse experiments have shown that NUP214 rearrangements alone are insufficient for leukemogenesis, indicating the importance of concurrent mutations for accurate assessment and patient management [2].

In conclusion, Nup214 is vital for nuclear-cytoplasmic transport. Its aberrant fusions in leukemia, as revealed through mouse models, play significant roles in the development of ALL and AML. Understanding Nup214's function and its role in leukemia can potentially contribute to better diagnosis, treatment, and prognosis prediction for leukemia patients.