INO80D
Overview
INO80D is a subunit of the INO80 ATP-dependent chromatin-remodeling complex involved in DNA repair and transcriptional regulation. In cancer genomics, INO80D was identified as a novel PAX3 fusion partner in rhabdomyosarcoma.
Alterations observed in the corpus
- PAX3::INO80D novel in-frame fusion detected in rhabdomyosarcoma case RMS2046 by RNA-seq; INO80D is a subunit of the ATP-dependent INO80 chromatin-remodeling complex; observed in a fusion-negative ARMS case by RT-PCR PMID:24436047
Cancer types (linked)
- RMS: novel PAX3::INO80D in-frame fusion in a histologically fusion-negative ARMS case PMID:24436047
Co-occurrence and mutual exclusivity
- PAX3::INO80D is an intra-chromosomal rearrangement, an alternative to canonical PAX3::FOXO1 t(2;13) translocation; may classify the patient with fusion-positive (PFP) rather than fusion-negative (PFN) group PMID:24436047
Therapeutic relevance
- Discovery of PAX3::INO80D has direct implications for therapeutic stratification — such patients may belong with the PFP group rather than PFN and should be treated accordingly PMID:24436047
Open questions
- Clinical behavior of PAX3::INO80D-driven RMS relative to canonical PAX3::FOXO1 has not been established PMID:24436047
Sources
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