Muscular Dystrophy Patients Facing Higher Cancer Incidences
In a significant discovery, a new study has revealed that patients with myotonic dystrophy, an inherited disease marked by progressive muscle weakness, have an increased risk of developing certain cancers compared to the general population.
The study, led by Richard T. Moxley, M.D., of the University of Rochester Medical Center, found that among a group of 1,658 patients with myotonic dystrophy, 104 developed cancer - twice the number of cases that would be expected in the overall population.
The research, which was funded by the National Institutes of Health, NCI, the Swedish Cancer Society, the Danish Medical Research Council, the Stockholm County Council, and the Karolinska Institutet Foundations, suggests that patients with myotonic dystrophy need to be absolutely vigilant about cancer screening, particularly colon cancer screening.
The study also found a possible increased risk for some other types of cancer, including eye, thyroid, pancreas, and other female reproductive organ cancers. Specifically, patients with myotonic dystrophy have been found to be at increased risk for cancers including endometrial cancer, ovarian cancer, thyroid cancer, melanoma, colon cancer, and brain tumors.
The genetic miscue that causes the disease might also make cancer more likely to occur. The product made by the faulty gene is a close molecular relative of several cancer susceptibility genes. While the exact mechanisms linking myotonic dystrophy to cancer are still being studied, the hypothesis centers on the genetic instability caused by the toxic RNA repeats characteristic of the disease, which may promote oncogenic mutations or interfere with normal cell cycle regulation.
Additional authors of the study are from the National Cancer Institute, the Statens Serum Institut in Denmark, and the Karolinska Institutet in Sweden. James Hilbert of the University of Rochester served as a study coordinator, alongside Moxley.
Moxley also heads the University's Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center and is the director of the University's Neuromuscular Disease Center, as well as a professor of Neurology. Charles Thornton, M.D., a colleague of Moxley, has discovered how the genetic repeat at the root of myotonic muscular dystrophy causes the disease.
The study will be conducted in more depth using a muscular dystrophy registry which includes about 1,600 patients with muscular dystrophy, compiled by Moxley and colleagues at Rochester. The corresponding author of the study is Mark Greene, M.D., of the National Cancer Institute, and the first author is Shahinaz M. Gadalla, M.D., Ph.D., of NCI.
Approximately 40,000 Americans have myotonic dystrophy. Increased awareness and appropriate cancer screening in these patients are advisable based on the findings of this study.
- The study reveals a higher prevalence of cancer among patients with myotonic dystrophy, a chronic disease, due to a potential genetic link, suggesting the need for increased health-and-wellness monitoring, especially in relation to colon cancer screening.
- The research indicates an increased risk for certain cancers, including endometrial cancer, ovarian cancer, thyroid cancer, melanoma, colon cancer, and brain tumors, in patients with myotonic dystrophy, emphasizing the importance of mental-health awareness and vigilance about medical-conditions.
- As myotonic dystrophy is linked to an increased risk of cancers, it is crucial for the 40,000 affected Americans to prioritize health-and-wellness screenings to combat the potential development of chronic diseases, thus increasing their overall quality of life.
