PAX2
Overview
PAX2 (Paired box 2) is a developmental master-regulator transcription factor that is normally silenced by PRC2-mediated H3K27 methylation. In malignant peripheral nerve sheath tumors (MPNSTs) with loss-of-function PRC2 mutations (EED or SUZ12), PAX2 is aberrantly upregulated due to loss of repressive H3K27me3 at its promoter.
Alterations observed in the corpus
- PRC2-repressed developmental master regulator aberrantly upregulated in PRC2-loss (EED/SUZ12 mutant) MPNSTs; promoter H3K27me3 restored after SUZ12 reintroduction in rescue experiments PMID:25240281
Cancer types (linked)
- MPNST: aberrant PAX2 upregulation is a downstream consequence of PRC2 (EED/SUZ12) loss-of-function, not a primary somatic mutation in PAX2 itself PMID:25240281
Co-occurrence and mutual exclusivity
- Upregulation co-occurs with EED or SUZ12 loss-of-function, NF1 mutation, and CDKN2A loss in MPNST PMID:25240281
Therapeutic relevance
- PAX2 reactivation is a downstream marker of PRC2 loss; re-expression of PRC2 components restores H3K27me3 at PAX2 promoter and inhibits growth in vitro PMID:25240281
Open questions
- Whether PAX2 re-expression is a driver or passenger of MPNST growth following PRC2 loss requires direct functional testing PMID:25240281
Sources
This page was processed by entity-page-writer on 2026-05-11.