Abstract
Muscular dystrophy is a condition potentially predisposing for cancer; however, currently, only Myotonic dystrophy patients are known to have a higher risk of cancer. Here, we have searched for a link between facioscapulohumeral dystrophy (FSHD) and cancer by comparing published transcriptome signatures of FSHD and various malignant tumours and have found a significant enrichment of cancer-related genes among the genes differentially expressed in FSHD. The analysis has shown that gene expression profiles of FSHD myoblasts and myotubes resemble that of Ewing's sarcoma more than that of other cancer types tested. This is the first study demonstrating a similarity between FSHD and cancer cell expression profiles, a finding that might indicate the existence of a common step in the pathogenesis of these two diseases.
Highlights
Recent studies have shown that murine models of Duchenne muscular dystrophy (DMD) and Limb-girdle muscular dystrophy (LGMD) frequently develop cancer
Eight lists of differentially expressed genes resulted from transcriptome analysis of skeletal muscle biopsies of facioscapulohumeral dystrophy (FSHD) patients (Lists A, Ca, Cb, Cc, Ea, Eb, Ga, and Gb), two lists resulted from the analysis of FSHD primary myoblasts (List B, Fa), one list resulted from the transcriptome analysis of FSHD myotubes (List Fb) and one list resulted from the transcriptome analysis of mesoangioblasts isolated from FSHD patients (List D; Table S2)
A link between cancer and muscular dystrophy has been previously demonstrated in the murine models of Duchenne and Limb-girdle muscular dystrophies
Summary
Recent studies have shown that murine models of Duchenne muscular dystrophy (DMD) and Limb-girdle muscular dystrophy (LGMD) frequently develop cancer. Several cases of coincidence of cancer and DMD [6,7,8,9,10,11,12,13] or facioscapulohumeral dystrophy (FSHD) [14,15,16] have been reported in humans; at the moment, DMD and FSHD patients are not considered to be more susceptible to cancer than the general population. Myotonic dystrophy (MD) patients are known to have higher risk of cancer [17, 18], while no cancer cases are known to be reported among LGMD patients. The rearrangement of the FSHD-associated region in 4q35 has been found in various tumours, including undifferentiated soft tissue sarcoma [23,24,25], Ewing’s sarcoma [26] and rhabdomyosarcoma [27]. Epigenetic alterations of the same region have been documented in cervical and ovarian cancers [28, 29]
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