NFE2
Overview
NFE2 encodes the p45 subunit of the NF-E2 (Nuclear Factor Erythroid 2) transcription factor complex, which regulates erythroid and megakaryocyte differentiation. Somatic gain-of-function mutations in NFE2 have been identified in myeloproliferative neoplasms (MPNs) and are thought to contribute to disease progression independent of the JAK2/CALR/MPL driver mutations.
Alterations observed in the corpus
- Somatic mutations identified in 2 patients in a WES cohort of 197 MPN patients (polycythemia vera, essential thrombocythemia, myelofibrosis); co-occurring with canonical MPN driver mutations PMID:24325359
Cancer types (linked)
- Myeloproliferative neoplasms (MPN) — somatic NFE2 mutations observed as secondary/co-mutations alongside JAK2, CALR, or MPL drivers PMID:24325359
Co-occurrence and mutual exclusivity
- Co-occurs with JAK2, CALR, or MPL driver mutations in MPN; does not appear to be a primary driver in this context PMID:24325359
Therapeutic relevance
- No direct therapeutic targeting of NFE2 described in this corpus.
Open questions
- Whether NFE2 mutations contribute to MPN progression or transformation to acute myeloid leukemia requires larger cohort investigation.
Sources
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