NUP214
Overview
NUP214 (Nucleoporin 214) encodes a component of the nuclear pore complex. In cancer genomics, NUP214 is notable primarily through its involvement in chromosomal translocations that generate oncogenic fusion proteins, most characteristically the DEK-NUP214 fusion arising from t(6;9) in acute myeloid leukemia (AML). This translocation defines a rare but clinically distinct AML subgroup with adverse prognosis.
Alterations observed in the corpus
- DEK-NUP214 t(6;9) fusion in 1% (n=15) of AML PMID:27276561
- NUP214–ABL1 fusion identified by RNA-seq in a 9-year-old with relapsed/refractory B-cell ALL (BLL) in a BCR-ABL1-like signature context; addition of dasatinib to third-line induction produced deep remission enabling curative bone-marrow transplant PMID:28007021
Cancer types (linked)
- AML: DEK-NUP214 t(6;9) is a recurrent class-defining translocation observed in ~1% of AML cases.
Co-occurrence and mutual exclusivity
- DEK-NUP214 co-occurs as a structural fusion partner with DEK gene on chromosome 6.
Therapeutic relevance
- No targeted therapies specific to DEK-NUP214 fusion are established; patients typically receive intensive chemotherapy.
Open questions
- Clinical outcome data for DEK-NUP214 AML relative to other adverse-risk cytogenetic subgroups remain limited given the rarity of this translocation.
Sources
This page was processed by crosslinker on 2026-05-14. - PMID:28007021
This page was processed by entity-page-writer on 2026-05-15.