FOXO1

Overview

FOXO1 is a forkhead transcription factor whose PAX3/PAX7 fusions define alveolar rhabdomyosarcoma (ARMS).

Alterations observed in the corpus

  • FOXO1 fusion partner in 85% of extremity alveolar rhabdomyosarcomas (detected by Archer FusionPlex or FISH with custom BAC probes) PMID:37315267.
  • PAX3::FOXO1 present in 70% of ARMS and associated with worse prognosis and older age than PAX7::FOXO1 (HR 3.45, P=.016) PMID:37315267.
  • PAX3::FOXO1 fusion is the pathognomonic driver in fusion-positive RMS (FP-RMS); detected in ctDNA at diagnosis (100%) and relapse (86%) in a sequential genomic study (N=18 FP-RMS patients) PMID:37730754.
  • PAX7::FOXO1 fusion found in 2/18 FP-RMS patients and associated with FOXO1 amplification PMID:37730754.
  • FOXO1 was identified as a recurrently mutated gene in DLBCL and FL through whole-genome/exome sequencing of non-Hodgkin lymphomas PMID:21796119
  • Recurrent disruptive rearrangement by chromoplexy affecting a gene implicated in prostate cancer signaling PMID:23622249
  • FOXO1 is the translocation partner in defining PAX3-FOXO1 [t(2;13)] and PAX7-FOXO1 [t(1;13)] fusions in alveolar rhabdomyosarcoma (ARMS); PAX7-FOXO1 fusion gene amplified in 12/15 PAX7-FOXO1 tumors; singleton expressed FOXO1 mutation also observed PMID:24436047
  • PAX7–FOXO1 fusion detected in alveolar rhabdomyosarcoma (ARMS) by RNA-seq in the PIPseq pediatric cohort; fusion was diagnostic and high-risk-group prognostic despite repeatedly negative FOXO1 break-apart FISH, demonstrating the added value of RNA-seq over FISH alone PMID:28007021.

Cancer types (linked)

Co-occurrence and mutual exclusivity

Therapeutic relevance

  • Fusion-partner subtype (PAX3 vs PAX7) carries independent prognostic weight and may warrant fusion-aware risk stratification PMID:37315267.

Open questions

  • None flagged in the corpus.

Sources

This page was processed by crosslinker on 2026-05-09. - PMID:21796119

This page was processed by crosslinker on 2026-05-09. - PMID:23622249

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

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

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