NCOA1

Overview

NCOA1 (nuclear receptor coactivator 1, also known as SRC-1) is a transcriptional coactivator that interacts with nuclear receptors and other transcription factors. In rhabdomyosarcoma, NCOA1 has been identified as a recurrent alternative fusion partner for PAX3 in a subset of cases classified as fusion-negative by standard RT-PCR.

Alterations observed in the corpus

  • Identified as a recurrent alternative fusion partner for PAX3 (PAX3-NCOA1) in fusion-negative ARMS rhabdomyosarcoma (RMS235 and RMS2031); intra-chromosomal rearrangement detected PMID:24436047

Cancer types (linked)

  • RMS (Rhabdomyosarcoma): PAX3-NCOA1 fusion represents a subset of RMS cases classified as “fusion-negative” by standard assays but carrying a PAX3 rearrangement to a non-canonical partner PMID:24436047

Co-occurrence and mutual exclusivity

  • PAX3-NCOA1 found in tumors lacking canonical PAX3-FOXO1 or PAX7-FOXO1 fusions PMID:24436047

Therapeutic relevance

  • The PAX3-NCOA1 fusion may have similar oncogenic consequences to canonical PAX fusions; clinical significance under investigation.

Open questions

  • Whether PAX3-NCOA1 fusion-positive RMS shares the aggressive phenotype of PAX3-FOXO1-positive tumors is not established.

Sources

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