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NFE2
Variants
VariantGeneTypeCOSMIC IDDNA Change (Coding Nucleotide)Exon
NFE2 any mutationNFE2any

Interpretations

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Tier 2
NFE2
Variants
NFE2 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Myeloproliferative Neoplasm
Mast Cell Neoplasm
Acute Myeloid Leukemia
Primary Myelofibrosis
Myelodysplastic Syndrome
Chronic Myelomonocytic Leukemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

NFE2 codes for a subunit of the NF-E2 (nuclear factor, erythroid 2) complex essential for regulating erythroid and megakaryocytic maturation and differentiation. This submit regulates a number of erythroid and megakaryocytic promoters. Rare insertion and deletion mutations leading to premature translation termination in NFE2 were found in 2% of myeloproliferative neoplasms (MPN). NFE2 mutatoins appear to be enriched in isolated myeloid sarcomas (MS). Of the six investigated cases of MS without previous or concurrent AML in the bone marrow, 4 (67%) harbored mutations in NFE2, 3 of which were missense and 1 of which was frameshift. In addition, NFE2 is overexpressed in the majority of patients with MPNs. In murine models, over-expression of NFE2 caused an MPN phenotype with spontaneous leukemic transformation, supporting a direct role of NFE2 in the pathogenesis of MPN. Over-expression of NFE2 in MPN may be attributed to histone H3Y41 phosphorylation by V617F-mutated JAK2 and transcriptional activation of NFE2 by JMJD1C in a positive feedback loop.

Last updated: 2018-11-12 20:41:16 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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