Elevated Cancer Prevalence Identified at Specific Anatomical Sites Among People With Myotonic Dystrophy Using a...

To optimize patient care and cancer screening in myotonic dystrophy (DM), it is crucial to clarify cancer risks by DM type to guide targeted screening and prevention efforts. This study describes the prevalence of cancer among individuals diagnosed with DM from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), and compares it to cancer prevalence in the US Surveillance, Epidemiology, and End Result (SEER) data.

This retrospective cohort study used 2008-2019 medical records data on 1229 individuals diagnosed with DM (DM1: 81.4%, DM2: 9.4%, DM-not otherwise specified [NOS]: 9.2%) from MD STARnet. Age- and sex-specific cancer prevalence rates from SEER were applied to the MD STARnet data to calculate 12-year limited duration (LD) and complete standardized prevalence ratios (SPR) for total cancer and by primary cancer site.

Over a 12-year span, individuals with DM1 had a 4.01-fold higher LD prevalence of thyroid cancer and a 17.97-fold higher LD prevalence of nonmelanoma skin cancer compared to the SEER prevalence, respectively. Complete prevalence assessments identified that individuals with DM1 had a 4.18-fold higher prevalence of thyroid cancer, a 2.36-fold higher prevalence of melanoma, and a 4.68-fold higher prevalence of ovarian cancer. For DM2, the study observed a 34.02-fold higher LD prevalence for nonmelanoma skin cancer. Additionally, a significantly elevated complete prevalence of breast cancer (2.65-fold) was noted for DM2 compared to SEER data.

Future research with larger cohorts is needed to define cancer risks by DM subtype and investigate underlying biological mechanisms.