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Benign and Malignant Tumors in Patients Diagnosed with Myotonic Dystrophy Type 1

Thursday, September 14, 2017 — Poster Session III

12:00 p.m. – 1:30 p.m.
FAES Terrace


  • R Alsaggaf
  • DM St George
  • RM Pfeiffer
  • Y Wang
  • M Zhan
  • KR Wagner
  • MH Greene
  • S Amr
  • SM Gadalla


Multiple case reports have suggested that Myotonic Dystrophy type 1 (DM1) patients may be at elevated risk of benign and malignant tumors. Recent epidemiological studies provided evidence that brain, ovarian, endometrial, colorectal, and thyroid cancers may be part of the DM phenotype, but this literature remains scanty, and evaluation of the risk of benign tumors has not been performed. Utilizing the UK Clinical Practice Research Datalink, we identified 999 DM1-affected and 14,849 DM1-free individuals from 1988-2016, matched on age, gender, clinical practice, and registration year. We used Cox regression models to calculate organ-specific hazard ratios (HRs) for benign and malignant tumors. The baseline hazard was stratified on the matched sets and models were adjusted for average number of doctor visits per year. For tumors that only appeared in DM1 patients, we used Fisher’s exact test to assess associations. Compared to DM-free individuals, DM1 patients were at significantly higher risk of thyroid cancer (HR=20, 95%CI=3.4-117.7), cutaneous melanoma (HR=3.6, 95%CI=1.0-13.1), uterine fibroids and polyps (HR=3.2, 95%CI=1.4-7.0), and colorectal polyps (HR=3.0, 95%CI=1.2-7.7). Pilomatricoma and benign tumors of the salivary glands were found only in DM1 patients, with corresponding Fisher’s exact p-values

Category: Epidemiology