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

Feng, Jessica; LaChance, Avery; Sinclair, David A.; Asgari, Maryam M.

doi:10.1136/bcr-2018-227233

Cited by 3 publications

(2 citation statements)

References 16 publications

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“…Nevertheless, further studies are required to fully elucidate EGFR activity in DM1, because altered EGFR signaling is associated with human cancers [48]. Several publications have indexed the overall risk of cancers in DM1 patients [4,49], with the most prevalent being skin cancers, specifically basal cell carcinoma [50,51]. To that end, we cannot exclude endocytic pathway alterations from the mechanism underlying the onset of cancers and/or metabolic diseases [52] in DM1 patients.…”

Section: Discussionmentioning

confidence: 99%

Delay of EGF-Stimulated EGFR Degradation in Myotonic Dystrophy Type 1 (DM1)

Alegre-Cortés

Gimenez-Bejarano

Uribe-Carretero

et al. 2022

Cells

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Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease caused by a CTG repeat expansion in the 3′ untranslated region of the dystrophia myotonica protein kinase gene. AKT dephosphorylation and autophagy are associated with DM1. Autophagy has been widely studied in DM1, although the endocytic pathway has not. AKT has a critical role in endocytosis, and its phosphorylation is mediated by the activation of tyrosine kinase receptors, such as epidermal growth factor receptor (EGFR). EGF-activated EGFR triggers the internalization and degradation of ligand–receptor complexes that serve as a PI3K/AKT signaling platform. Here, we used primary fibroblasts from healthy subjects and DM1 patients. DM1-derived fibroblasts showed increased autophagy flux, with enlarged endosomes and lysosomes. Thereafter, cells were stimulated with a high concentration of EGF to promote EGFR internalization and degradation. Interestingly, EGF binding to EGFR was reduced in DM1 cells and EGFR internalization was also slowed during the early steps of endocytosis. However, EGF-activated EGFR enhanced AKT and ERK1/2 phosphorylation levels in the DM1-derived fibroblasts. Therefore, there was a delay in EGF-stimulated EGFR endocytosis in DM1 cells; this alteration might be due to the decrease in the binding of EGF to EGFR, and not to a decrease in AKT phosphorylation.

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Section: Discussionmentioning

confidence: 99%

Delay of EGF-Stimulated EGFR Degradation in Myotonic Dystrophy Type 1 (DM1)

Alegre-Cortés

Gimenez-Bejarano

Uribe-Carretero

et al. 2022

Cells

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“…39 Since then, 9 case reports have been published on DM1 patients presenting with multiple BCC suggesting an association between the repeat-expansion disorder and BCC. 40 A UK retrospective study on 1061 DM1 patients and 15,119 DM1-free matched individuals in the UK Clinical Practice Research Datalink demonstrated an increased risk of all skin cancers in DM1 patients compared to their matched DM1-free controls, with the highest risk for BCC (hazard ratio, 5.78; 95% CI, 3.36-9.92; P < .0001). 41 DM1 patients also demonstrated an approximately 2-fold increase in melanoma risk, though not statistically significant.…”

Section: Skin Cancer and Myotonic Dystrophymentioning

confidence: 99%

Cutaneous findings in myotonic dystrophy

Kong

Pollack

2022

JAAD International

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Cancer and Myotonic Dystrophy

D’Ambrosio

González-Pérez

2023

JCM

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Myotonic dystrophy (DM) is the most common muscular dystrophy in adults. Dominantly inherited CTG and CCTG repeat expansions in DMPK and CNBP genes cause DM type 1 (DM1) and 2 (DM2), respectively. These genetic defects lead to the abnormal splicing of different mRNA transcripts, which are thought to be responsible for the multiorgan involvement of these diseases. In ours and others’ experience, cancer frequency in patients with DM appears to be higher than in the general population or non-DM muscular dystrophy cohorts. There are no specific guidelines regarding malignancy screening in these patients, and the general consensus is that they should undergo the same cancer screening as the general population. Here, we review the main studies that investigated cancer risk (and cancer type) in DM cohorts and those that researched potential molecular mechanisms accounting for DM carcinogenesis. We propose some evaluations to be considered as malignancy screening in patients with DM, and we discuss DM susceptibility to general anesthesia and sedatives, which are often needed for the management of cancer. This review underscores the importance of monitoring the adherence of patients with DM to malignancy screenings and the need to design studies that determine whether they would benefit from a more intensified cancer screening than the general population.

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

Cited by 3 publications

References 16 publications

Delay of EGF-Stimulated EGFR Degradation in Myotonic Dystrophy Type 1 (DM1)

Delay of EGF-Stimulated EGFR Degradation in Myotonic Dystrophy Type 1 (DM1)

Cutaneous findings in myotonic dystrophy

Cancer and Myotonic Dystrophy

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