DMD

Overview

DMD encodes dystrophin, a large structural protein linking the intracellular actin cytoskeleton to the extracellular matrix via the dystrophin-associated protein complex (DAPC). While best known as the causal gene for Duchenne and Becker muscular dystrophies, DMD has been identified as a somatically mutated gene in multiple cancer types. Large-scale DMD deletions or mutations in cancer may disrupt the DAPC and have been proposed to affect cell adhesion, mechanosensing, and possibly tumor suppression.

Alterations observed in the corpus

  • Known meningioma driver gene assessed in the mutational analysis of an integrative molecular classification of 565 meningiomas; DMD mutations noted alongside SMARCB1 in the classification framework PMID:34433969.
  • 30 kb deletion acquired at relapse in one fusion-negative rhabdomyosarcoma (FN-RMS) patient; identified as an acquired somatic event in the ctDNA-based sequential genomic analysis of rhabdomyosarcoma progression PMID:37730754.

Cancer types (linked)

  • MNG: DMD is a recognized meningioma driver gene included in the mutational landscape assessment of the integrative four-group molecular classification PMID:34433969.
  • RMS/ERMS: A 30 kb DMD deletion was acquired at relapse in one FN-RMS patient, representing an exclusively relapse-associated genomic event in this case PMID:37730754.

Co-occurrence and mutual exclusivity

  • In meningioma, DMD mutations are assessed alongside SMARCB1 as known driver genes; their co-occurrence patterns with NF2, TRAF7, AKT1, and the MG3/MG4-specific alterations (CHD2, KDM6A, PTEN) were not specifically quantified PMID:34433969.
  • In FN-RMS, the DMD deletion was observed as part of a set of exclusively relapse-acquired alterations; the tumor also had higher mutational counts relative to the primary PMID:37730754.

Therapeutic relevance

  • No direct therapeutic implications for DMD somatic mutations in cancer are reported in the corpus.

Open questions

  • The mechanistic role of DMD loss in meningioma and rhabdomyosarcoma oncogenesis remains poorly understood; it is unclear whether DMD inactivation drives tumor progression or is a bystander event in tumors with widespread genomic instability.

Sources

This page was processed by crosslinker on 2026-05-04.