Cutaneous Neoplasms in Myotonic Dystrophy Type 1

Marcoval, Joaquim; Olivé, Montse; Bonfill-Ortí, Montserrat; Martínez-Molina, L.; Talavera-Belmonte, A.

doi:10.1159/000456074

Cited by 10 publications

(13 citation statements)

References 13 publications

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“…Two small studies from Italy comparing dermatological findings of DM1 patients with controls showed significantly higher frequencies of pilomatricoma, dysplastic nevi, and melanoma in DM1 patients, but found contradictory results with BCC . Similar results for pilomatricoma were reported in a single Spanish center study using patient medical records . No significant BCC prevalence difference between DM1 patients and controls was noted; however, DM1 patients developed BCC at a younger age than controls.…”

supporting

confidence: 53%

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Risk of skin cancer among patients with myotonic dystrophy type 1 based on primary care physician data from the U.K. Clinical Practice Research Datalink

Wang

Pfeiffer

Alsaggaf

et al. 2017

Intl Journal of Cancer

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Myotonic dystrophy type 1 (DM1) is an inherited multisystem neuromuscular disorder caused by a CTG trinucleotide repeat expansion in the DMPK gene. Recent evidence documents that DM1 patients have an increased risk of certain cancers, but whether skin cancer risks are elevated is unclear. Using the U.K. Clinical Practice Research Datalink (CPRD), we identified 1,061 DM1 patients and 15,119 DM1-free individuals matched on gender, birth year (±2 years), attending practice and registration year (±1 year). We calculated the hazard ratios (HRs) and 95% confidence intervals (CIs) for the association of DM1 diagnosis with skin cancer risk using Cox proportional hazards models, for all skin cancers combined and by histological subtype. Follow-up started at the latest of the age at practice registration, DM1 diagnosis/control selection or January 1st 1988, and ended at the earliest of the age at first skin cancer diagnosis, death, transfer out of the practice, last date of data collection or the end of the CPRD record (October 31, 2016). During a median follow-up of 3.6 years, 35 DM1 patients and 108 matched DM1-free individuals developed a skin cancer. DM1 patients had an increased risk of skin cancer overall (HR = 5.44, 95% CI = 3.33-8.89, p < 0.0001), and basal cell carcinoma (BCC) (HR = 5.78, 95% CI = 3.36-9.92, p < 0.0001). Risks did not differ by gender, or age at DM1 diagnosis (p-heterogeneity > 0.5). Our data confirm suggested associations between DM1 and skin neoplasms with the highest risk seen for BCC. Patients are advised to minimize ultraviolet light exposure and seek medical advice for suspicious lesions.

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supporting

confidence: 53%

“…19,20 Similar results for pilomatricoma were reported in a single Spanish center study using patient medical records. 21 No significant BCC prevalence difference between DM1 patients and controls was noted; however, DM1 patients developed BCC at a younger age than controls.…”

mentioning

confidence: 86%

Risk of skin cancer among patients with myotonic dystrophy type 1 based on primary care physician data from the U.K. Clinical Practice Research Datalink

Wang

Pfeiffer

Alsaggaf

et al. 2017

Intl Journal of Cancer

View full text Add to dashboard Cite

show abstract

“…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 . Finally, a Spanish study found an increased risk of pilomatricoma in 102 DM1 patients versus age‐ and gender‐matched controls …”

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

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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.

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“…2–9 A population-based nested case-control study found a significantly higher BCC risk among DM1 patients than age- and sex-matched controls (HR=5.78, 95% CI 3.36 to 9.92, p<0.0001) 10. Another study found that, BCCs developed at a significantly younger age in patients with DM1 as compared with the general population (51 years vs 66 years, p=0.035) 11. There may also be an association between DM1 other forms of skin cancer.…”

Section: Discussionmentioning

confidence: 99%

Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1

et al. 2019

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A man in his early 60s with myotonic dystrophy type 1 (DM1) and an extensive history of non-melanoma skin cancer presented with multiple pearly, erythematous papules on his face, head, trunk and extremities, clinically consistent with basal cell carcinoma (BCC). Due to the numerous BCC and history of multiple and early-onset BCC, examination was concerning for a hereditary BCC syndrome. Subsequent histopathology confirmed BCC. Genetic testing was negative for basal cell nevus syndrome and clinical findings were inconsistent with other known hereditary BCC syndromes. There have been reports of an association between DM1 and BCC, however, it is not well known among clinicians. We hope to raise awareness among clinicians about this association.

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Cutaneous Neoplasms in Myotonic Dystrophy Type 1

Cited by 10 publications

References 13 publications

Risk of skin cancer among patients with myotonic dystrophy type 1 based on primary care physician data from the U.K. Clinical Practice Research Datalink

Risk of skin cancer among patients with myotonic dystrophy type 1 based on primary care physician data from the U.K. Clinical Practice Research Datalink

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

Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1

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