MYCBP2
Overview
MYCBP2 (MYC Binding Protein 2, also known as PAM or Phr1) encodes a large E3 ubiquitin ligase involved in axon guidance and synaptic organization, but also functions as a transcriptional co-regulator of MYC. In the context of B-cell acute lymphoblastic leukemia (B-ALL), MYCBP2 is among the transcriptional-regulator genes with somatic mutations enriched in the DUX4/ERG ALL subtype, a molecularly distinct subset defined by IGH–DUX4 rearrangement.
Alterations observed in the corpus
- Transcriptional-regulator gene with mutations enriched in the DUX4/ERG B-ALL subtype (IGH–DUX4 rearrangement) relative to 209 other B-ALL and 16 T-ALL comparator cases; 21% of DUX4/ERG cases harbored recurrent transcriptional-regulator mutations in MYC, MYCBP2, MGA, and ZEB2 collectively PMID:27776115
Cancer types (linked)
- BLL: somatic mutations enriched in the DUX4/ERG subtype of B-ALL (~7.6% of B-ALL; N=1,913 patients profiled) PMID:27776115
Co-occurrence and mutual exclusivity
- Co-mutated with MYC, MGA, and ZEB2 as part of a transcriptional-regulator mutation cluster in DUX4/ERG ALL PMID:27776115
Therapeutic relevance
- No direct therapeutic targeting reported in the corpus.
Open questions
- The functional consequence of MYCBP2 mutations in the context of DUX4/ERG-driven B-ALL (e.g., whether they contribute to MYC pathway dysregulation independently) has not been demonstrated.
Sources
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