Dystrophin is a tumor suppressor in human cancers with myogenic programs

Nat Genet. 2014 Jun;46(6):601-6. doi: 10.1038/ng.2974. Epub 2014 May 4.

Abstract

Many common human mesenchymal tumors, including gastrointestinal stromal tumor (GIST), rhabdomyosarcoma (RMS) and leiomyosarcoma (LMS), feature myogenic differentiation. Here we report that intragenic deletion of the dystrophin-encoding and muscular dystrophy-associated DMD gene is a frequent mechanism by which myogenic tumors progress to high-grade, lethal sarcomas. Dystrophin is expressed in the non-neoplastic and benign counterparts of GIST, RMS and LMS tumors, and DMD deletions inactivate larger dystrophin isoforms, including 427-kDa dystrophin, while preserving the expression of an essential 71-kDa isoform. Dystrophin inhibits myogenic sarcoma cell migration, invasion, anchorage independence and invadopodia formation, and dystrophin inactivation was found in 96%, 100% and 62% of metastatic GIST, embryonal RMS and LMS samples, respectively. These findings validate dystrophin as a tumor suppressor and likely anti-metastatic factor, suggesting that therapies in development for muscular dystrophies may also have relevance in the treatment of cancer.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Differentiation
  • Cell Line, Tumor
  • Cell Movement
  • Disease Progression
  • Dystrophin / genetics*
  • Dystrophin / physiology*
  • Female
  • Gastrointestinal Stromal Tumors / genetics
  • Gene Deletion
  • Genes, Tumor Suppressor
  • Humans
  • In Situ Hybridization, Fluorescence
  • Interstitial Cells of Cajal / pathology
  • Leiomyosarcoma / genetics
  • Male
  • Mice
  • Mice, Inbred BALB C
  • Muscle Development / genetics
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Neoplasm Invasiveness
  • Oligonucleotide Array Sequence Analysis
  • Polymorphism, Single Nucleotide
  • Rhabdomyosarcoma / genetics
  • Sarcoma / genetics*

Substances

  • DMD protein, human
  • Dystrophin

Associated data

  • GEO/GSE53021