Pilocytic Astrocytoma Tissue from a 25-year-old Patient with Duchenne Muscular Dystrophy Expresses the DMD Transcript but Not Protein

Duchenne muscular dystrophy (DMD) is a lethal progressive skeletal muscle wasting disease caused by mutations of the dystrophin (DMD) gene. DMD has also been reported to function as a tumor suppressor gene. We report a case of recurrent glioma in a 25-year-old male with a nonsense mutation (c.8460G>A) in exon 57 of the DMD gene. The glioma was diagnosed as pilocytic astrocytoma (PA) through histological analysis. Evaluation of cDNA samples prepared from the tumor tissuederived RNA showed the presence of DMD transcripts which might produce dystrophin isoforms. However, anti-dystrophin antibodies could not detect any dystrophin isoform by immunostaining of the tumor tissue. This is the first case of PA in a DMD patient to the best of our knowledge. Although the occurrence of PA in this patient could be by chance, the discordant expression of transcript and protein might provide clues to support the new role of dystrophin as a tumor suppressor. Nevertheless, this is a single case and further analysis with many more patients is required to provide a definitive conclusion.