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Updated: Feb 7, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
Published on: July 29, 2016
Cancer phenotype in myotonic dystrophy patients: Results from a meta-analysis
Jose I Emparanza1, Adolfo López de Munain2, Mark H Greene3
1Clinical Epidemiology Unit, Donostia University Hospital, San Sebastian, Spain.
Introduction:
Recent studies have provided evidence that patients with myotonic dystrophy (DM) are at excess risk of cancer. However, inconsistencies regarding affected anatomic sites persist.
Methods:
We performed a meta-analysis of cancer risk in DM, searching among studies published between January 1, 1990 and December 31, 2016. Eligible studies were full reports of DM cohorts with site-specific risks.
Results:
The analysis included 5 studies, comprising 2,779 patients. Risk estimates for cancers of the endometrium and cutaneous melanoma were reported in all studies. The pooled standardized incidence ratio (pSIRs) for endometrial cancer was 7.48 (95% confidence interval [CI] 4.72-11.8) and for cutaneous melanoma was 2.45 (95% CI 1.31-4.58). Among cancers reported in 4 of 5 studies, elevated risks were observed for thyroid (pSIR = 8.52, 95% CI 3.62-20.1), ovarian (pSIR = 5.56, 95% CI 2.99-10.3), testicular (pSIR = 5.95, 95% CI 2.34-15.1), and colorectal (pSIR = 2.2, 95% CI 1.39-3.49) cancers.
Discussion:
Our data refine the DM cancer phenotype, which may guide patient clinical management and inform plans for molecular investigations to understand DM-related carcinogenesis. Muscle Nerve 58: 517-522, 2018.
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