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Increased cancer risk in patients with myotonic muscular dystrophy

Clinical Question:
Are patients with myotonic muscular dystrophy at increased risk of cancer?

Bottom Line:
Patients with myotonic muscular dystrophy (MMD) are at a significantly increased risk of cancer; specifically, endometrial cancer, brain cancer, ovarian cancer, and colon cancer. (LOE = 1b)

Gadalla SM, Lund M, Pfeiffer RM, et al. Cancer risk among patients with myotonic muscular dystrophy. JAMA 2011;306(22):2480-2486.  [PMID:22166607]

Study Design:
Cohort (prospective)



These investigators analyzed data obtained from the national health registers of Sweden and Denmark. The registry in Denmark reached 100% nationwide hospital coverage in 1977, as did the registry in Sweden in 1987. All patients meeting international diagnostic criteria for MMD were identified and their information was linked to national cancer registries. Individuals with cancer prior to the time of registration were not included. Of the 1658 patients with MMD, the median age at diagnosis was 46 years and 38 years in Sweden and Denmark, respectively. Approximately half were men. During 14,170 person-years of follow-up, 104 MMD patients developed cancer compared with 52.3 expected cases based on overall national incidence rates. Specifically, significantly increased cases were diagnosed for endometrial cancer, brain cancer, ovarian cancer, and colon cancer. No age-stratified risk difference was noted for patients younger than 50 years or patients 50 years and older.


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