Abstract Details

Title Cancer Frequency and Type in Myotonic Dystrophy, Facioscapulohumeral Muscular Dystrophy, and Oculopharyngeal Muscular Dystrophy: A 23-year, Single-center, Retrospective Study

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P3 - Poster Session 3 (5:30 PM-6:30 PM)

Poster/Presentation
Number 11-004

Objective To determine the frequency and type of cancers and benign tumors in patients with three muscular dystrophies including myotonic dystrophy type 1 and 2 (DM1 and DM2), facioscapulohumeral muscular dystrophy (FSHD), and oculopharyngeal muscular dystrophy (OPMD).

Background Some muscular dystrophies, such as DM1, DM2, FSHD, and OPMD, are caused by genetic mutations that may affect the expression and function of various cancer-related genes and pathways. These mutations may increase the susceptibility to cancer in animal models, but there are only limited clinical studies on frequency of cancers in patients with these muscular dystrophies.

Design/Methods A single-center, retrospective, cross-sectional study was performed on patients with confirmed diagnoses of DM1, DM2, FSHD, and OPMD at our institution from January 2000 to September 2023.

Results Seventy seven (46 female) DM1, 20 (15 female) DM2, 40 (18 female) FSHD, and 46 (22 female) OPMD patients were included, among which 22 (28.57%), 9 (45%), 7 (17.5%), and 15 (32.61%) patients had at least one cancer, respectively. Median age (range) of patients where presence or absence of cancer was ascertained was 65 (18-87), 63.5 (45-86), 61 (27-83), and 71.5 (40-82) years, respectively (P<0.0001). Overall, non-sex-related cancers (including skin, thyroid, gastrointestinal, urological, hematologic) were more frequent than sex-related cancers (including breast, endometrium, prostate, and testes) among all patients together. However, melanoma (P<0.01) and testicular (P<0.05) cancers were significantly more frequent in DM2 and OMPD patients, respectively. Benign tumors (especially non-sex-related tumors including skin and thyroid tumors) were also more frequent in both DM1 and DM2 patients than FSHD and OPMD cases.

Conclusions Our findings revealed the prevalence and diversity of cancers and benign tumors among patients with DM1, DM2, FSHD, and OPMD. We also emphasize the need for regular screening for specific cancers such as melanoma and testicular cancers in patients with DM2 and OPMD.

Authors/Disclosures
Naman Bareja, MBBS (Naman Bareja) PRESENTER	Dr. Bareja has nothing to disclose.
Michal Vytopil, MD (Lahey Clinic)	Dr. Vytopil has nothing to disclose.
Jayashri Srinivasan, MD, PhD, MRCP, FAAN (Lahey Clinic)	Dr. Srinivasan has nothing to disclose.
Mehdi Ghasemi, MD	Dr. Ghasemi has nothing to disclose.

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