Benign and malignant tumors in the UK myotonic dystrophy patient registry

Alsaggaf, Rotana; Wang, Youjin; Marini‐Bettolo, Chiara; Wood, Libby; Nikolenko, Nikoletta; Lochmüller, Hanns; Greene, Mark H.; Gadalla, Shahinaz M.

doi:10.1002/mus.25736

Cited by 15 publications

(25 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Consistent with previous cross‐sectional studies of DM1‐associated tumors, benign tumors were more frequently observed in female DM1‐patients (18%) versus males (10%), with endocrine, brain, and salivary tumors occurring exclusively in females. In contrast, most pilomatricomas occurred in male DM1 patients, a finding consistent with a previous cross‐sectional study of 255 Italian DM1 patients, but not with the female predominance as reported in published literature of pilomatricomas in the general population .…”

Section: Discussionsupporting

confidence: 90%

“…Other reported benign tumors included those arising in the parotid, parathyroid, thyroid, and pituitary glands, as well as thymoma, meningioma, uterine fibroids, and insulinoma (reviewed by Mueller et al ). Cross‐sectional studies of 255 Italian and 231 United Kingdom (UK) DM1 patients reported overall benign tumor frequencies of approximately 21% and 12%, respectively, with female reproductive tumors most commonly reported. Another Italian study in which dermatological examinations were conducted in 90 DM1 patients and 103 age‐ and gender‐matched controls found that DM1 patients were more likely to have dysplastic nevi and pilomatricoma .…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Benign tumors in myotonic dystrophy type I target disease‐related cancer sites

Alsaggaf

George

Zhan

et al. 2019

Ann Clin Transl Neurol

Self Cite

View full text Add to dashboard Cite

Objectives Recent evidence showed that myotonic dystrophy type I (DM1) patients are at increased risk of certain cancers, but the risk of benign tumors is unknown. We compared the risk of benign tumors in DM1 patients with matched DM1‐free individuals and assessed the association between benign tumors and subsequent cancers. Methods We identified 927 DM1 patients and 13,085 DM1‐free individuals matched on gender, birth‐year, clinic, and clinic‐registration year from the UK Clinical Practice Research Datalink, a primary care records database. We used Cox regression models for statistical analyses. Results DM1 patients had elevated risks of thyroid nodules (Hazard Ratio [HR] = 10.4; 95% Confidence Interval [CI] = 3.91–27.52; P < 0.001), benign tumors of the brain or nervous system (HR = 8.4; 95% CI = 2.48–28.47; P < 0.001), colorectal polyps (HR = 4.3; 95% CI = 1.76–10.41; P = 0.001), and possibly uterine fibroids (HR = 2.7; 95% CI = 1.22–5.88; P = 0.01). Pilomatricomas and salivary gland adenomas occurred almost exclusively in DM1 patients (Fisher's exact P < 0.001). The HR for colorectal polyps was elevated in DM1 males but not in females (HR = 8.2 vs. 1.3, respectively; P‐heterogeneity < 0.001), whereas endocrine and brain tumors occurred exclusively in females. The data suggested an association between benign tumors and subsequent cancer in classic DM1 patients (HR = 2.7; 95% CI = 0.93–7.59; P = 0.07). Interpretation Our study showed a similar site‐specific benign tumor profile to that previously reported for DM1‐associated cancers. The possible association between benign tumors and subsequent cancer in classic DM1 patients warrants further investigation as it may guide identifying patients at elevated risk of cancer. Our findings underscore the importance of following population‐based screening recommendations in DM1 patients, for example, for colorectal cancer.

show abstract

Section: Discussionsupporting

confidence: 90%

Section: Introductionmentioning

confidence: 99%

Benign tumors in myotonic dystrophy type I target disease‐related cancer sites

Alsaggaf

George

Zhan

et al. 2019

Ann Clin Transl Neurol

Self Cite

View full text Add to dashboard Cite

show abstract

“…Several studies looking at the effect of known risk factors on DM cancer risk, all sites combined, indicated no association with smoking, alcohol, or body mass index. [20][21][22] However, a recent analysis of skin cancer risk factors in DM patients showed increased risks in subjects reporting a blistering sunburn after sun exposure (odds ratio = 4.28, 95% CI 0.91-19.95, P = 0.06). 23 Large, well-designed studies of genetically confirmed DM patients with comprehensive risk factor information are needed to investigate the possible interactions between genetically predisposed DM patients and environmental exposures in DMrelated carcinogenesis.…”

Section: Discussionmentioning

confidence: 99%

“…It is also possible that some of the findings were confounded by unmeasured behavioral risk factors, such as smoking and lung cancer, exogenous hormones, and endometrial or ovarian cancer, etc. Several studies looking at the effect of known risk factors on DM cancer risk, all sites combined, indicated no association with smoking, alcohol, or body mass index . However, a recent analysis of skin cancer risk factors in DM patients showed increased risks in subjects reporting a blistering sunburn after sun exposure (odds ratio = 4.28, 95% CI 0.91–19.95, P = 0.06) .…”

Section: Discussionmentioning

confidence: 99%

Cancer phenotype in myotonic dystrophy patients: Results from a meta‐analysis

et al. 2018

Self Cite

View full text Add to dashboard Cite

show abstract

“…Because of the limited number of high-quality surveys and studies about the prevalence of cancer in DM1, further research is needed. A survey from the UK DM registry showed that 12.4% of the DM1/DM2 patients reported at least one benign tumor and 6.2% reported at least one malignant tumor with a high incidence of skin tumors ( 96 ), but there was no epidemiologic correlation with a non-DM-population.…”

Section: Extramuscular Symptomsmentioning

confidence: 99%

Core Clinical Phenotypes in Myotonic Dystrophies

2018

View full text Add to dashboard Cite

Myotonic dystrophy type 1 (DM1) and type 2 (DM2) represent the most frequent multisystemic muscular dystrophies in adulthood. They are progressive, autosomal dominant diseases caused by an abnormal expansion of an unstable nucleotide repeat located in the non-coding region of their respective genes DMPK for DM1 and CNBP in DM2. Clinically, these multisystemic disorders are characterized by a high variability of muscular and extramuscular symptoms, often causing a delay in diagnosis. For both subtypes, many symptoms overlap, but some differences allow their clinical distinction. This article highlights the clinical core features of myotonic dystrophies, thus facilitating their early recognition and diagnosis. Particular attention will be given to signs and symptoms of muscular involvement, to issues related to respiratory impairment, and to the multiorgan involvement. This article is part of a Special Issue entitled “Beyond Borders: Myotonic Dystrophies—A European Perception.”

show abstract

Benign and malignant tumors in the UK myotonic dystrophy patient registry

Abstract: Our results confirm previous findings suggesting a limited role for common lifestyle factors and a potential genetic contribution in DM tumor predisposition. Muscle Nerve 57: 316-320, 2018.

Cited by 15 publications

References 19 publications

Benign tumors in myotonic dystrophy type I target disease‐related cancer sites

Benign tumors in myotonic dystrophy type I target disease‐related cancer sites

Cancer phenotype in myotonic dystrophy patients: Results from a meta‐analysis

Core Clinical Phenotypes in Myotonic Dystrophies

Contact Info

Product

Resources

About