ACVR1B
Overview
ACVR1B (Activin A Receptor Type 1B, also known as ALK4) encodes a type I serine/threonine kinase receptor that mediates TGF-beta/activin signaling. In cancer genomics, frameshift mutations have been identified as rare somatic events in adenoid cystic carcinoma (AdCC).
Alterations observed in the corpus
- Single frameshift mutation identified in sinonasal AdCC (1/21 sequenced cases); part of the long tail of singleton mutations in the coding panel; somatic status not confirmed by matched normal sequencing PMID:24418857
- TGF-β-axis alteration in pancreatic ductal adenocarcinoma (PDA), co-occurring with SMAD4 loss and augmenting TGF-β pathway disruption PMID:25855536
Cancer types (linked)
- Adenoid cystic carcinoma of the sinonasal tract: rare frameshift mutation (~5% of sequenced cases in this cohort); clinical significance unknown PMID:24418857
Co-occurrence and mutual exclusivity
- No co-occurrence patterns reported; observed as a singleton mutation in a cohort where no individual mutation had high recurrence PMID:24418857
Therapeutic relevance
- No targeted therapy data. The authors note that no individual mutation in the sinonasal AdCC cohort had sufficient recurrence to identify it as an essential pathogenetic driver PMID:24418857
Open questions
- Whether ACVR1B frameshift mutations are true co-drivers or passenger events in AdCC remains unresolved; matched normal sequencing is needed to confirm somatic vs. germline origin PMID:24418857
Sources
This page was processed by crosslinker on 2026-05-14. - PMID:25855536
This page was processed by crosslinker on 2026-05-14.