CEBPA

Overview

CEBPA (CCAAT Enhancer Binding Protein Alpha) encodes a transcription factor critical for myeloid differentiation. Recurrent mutations in CEBPA define a distinct favorable-risk subgroup in acute myeloid leukemia (AML) and are mutually exclusive with several other major AML drivers.

Alterations observed in the corpus

  • Recurrently mutated in AML; part of the mutual-exclusivity set with transcription-factor fusions, NPM1, RUNX1, and TP53 PMID:23634996
  • Focal amplification observed in bladder TCC PMID:24121792
  • CEBPA biallelic mutations define favorable AML subgroup (4%, n=66); HR 0.6 (0.4-0.7), P=4x10⁻⁵ for overall survival PMID:27276561
  • CEBPA biallelic frameshift mutations in AML; identified as a prognostic marker of improved outcome in the PIPseq pediatric precision-oncology cohort (Table 3) PMID:28007021
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Cancer types (linked)

  • AML: recurrent CEBPA mutations define a favorable-risk category mutually exclusive of NPM1 and FLT3 mutations PMID:23634996

Co-occurrence and mutual exclusivity

  • Mutually exclusive with NPM1, FLT3, RUNX1, TP53, and transcription-factor fusions (PML-RARA, RUNX1-RUNX1T1, MYH11-CBFB) in AML PMID:23634996

Therapeutic relevance

  • CEBPA-mutant AML is associated with favorable prognosis and may influence treatment stratification.

Open questions

  • Role of co-occurring epigenetic mutations (DNMT3A, TET2) in CEBPA-mutant AML.

Sources

This page was processed by crosslinker on 2026-05-09. - PMID:24121792

This page was processed by crosslinker on 2026-05-09. - PMID:27276561

This page was processed by wiki-cli on 2026-05-14. - PMID:28007021

This page was processed by wiki-cli on 2026-05-14.

This page was processed by entity-page-writer on 2026-05-15. - PMID:29100075

This page was processed by wiki-cli on 2026-05-15.