GLI1
Overview
GLI1 (GLI Family Zinc Finger 1) is a transcriptional effector of the Hedgehog signaling pathway. GLI1 maps to chromosome 12q13-15, a region subject to focal amplification in rhabdomyosarcoma and other sarcomas. Co-amplification with CDK4 at this locus is a recurrent event in fusion-positive rhabdomyosarcoma (FP-RMS).
Alterations observed in the corpus
- GLI1 co-amplified with CDK4 in 2 fusion-positive rhabdomyosarcoma (FP-RMS) tumors at the 12q13-15 locus; co-amplification with MDM2 also observed at this locus in 1 additional tumor PMID:37730754.
- Amplification in 1/19 (5%) FISH-confirmed 1p/19q-codeleted oligodendroglioma cases PMID:28472509
Cancer types (linked)
- RMS — GLI1 co-amplified with CDK4 at 12q13-15 in a subset of FP-RMS PMID:37730754.
Co-occurrence and mutual exclusivity
- Co-amplified with CDK4 (and sometimes MDM2) at the 12q13-15 chromosomal locus in FP-RMS PMID:37730754.
Therapeutic relevance
- CDK4 amplification at 12q13-15 (co-occurring with GLI1) is part of a secondary alteration set in FP-RMS associated with worse OS and PFS, supporting stratification of these patients to higher-risk protocols PMID:37730754.
Open questions
- Whether GLI1 amplification independently contributes to the aggressive phenotype of FP-RMS, separate from co-amplified CDK4, is unresolved PMID:37730754.
Sources
This page was processed by crosslinker on 2026-05-04. - PMID:28472509
This page was processed by wiki-cli on 2026-05-15.