PAX7

Overview

PAX7 is a paired-box transcription factor. PAX7::FOXO1 fusions define a more favorable prognostic subset of alveolar rhabdomyosarcoma relative to PAX3::FOXO1.

Alterations observed in the corpus

  • PAX7::FOXO1 fusion present in a minority of extremity ARMS cases in the 61-patient MSK cohort; detected by Archer FusionPlex or FISH PMID:37315267.
  • PAX7::FOXO1 ARMS carries more favorable prognosis relative to PAX3::FOXO1 (HR 3.45 favoring PAX7, P=.016) PMID:37315267.
  • PAX7::FOXO1 fusion found in 2/18 FP-RMS patients in a multi-institutional sequential genomic study; associated with FOXO1 amplification in these tumors PMID:37730754.
  • Defines PAX7-FOXO1 fusion via t(1;13) in ARMS rhabdomyosarcoma (n=15); PAX7-FOXO1 fusion gene amplified in 12/15 (80%) PAX7-FOXO1 tumors, frequently driving high copy number of the fusion PMID:24436047
  • PAX7-FOXO1 fusion identified by RNA-seq in alveolar rhabdomyosarcoma (ARMS) — diagnostic and high-risk-group prognostic marker, despite repeatedly negative FOXO1 break-apart FISH; a pediatric precision-oncology case PMID:28007021

Cancer types (linked)

Co-occurrence and mutual exclusivity

Therapeutic relevance

  • Supports fusion-partner-aware risk stratification PMID:37315267.

Open questions

  • Biological basis for prognostic divergence between PAX3 and PAX7 fusion subtypes PMID:37315267.

Sources

This page was processed by crosslinker on 2026-05-09. - PMID:24436047

This page was processed by crosslinker on 2026-05-09. - PMID:28007021

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