Increased Cancer Risks in Myotonic Dystrophy

Win, Aung Ko; Perattur, Promilla G.; Pulido, José S.; Pulido, Christine M.; Lindor, Noralane M.

doi:10.1016/j.mayocp.2011.09.005

Cited by 86 publications

(97 citation statements)

References 26 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…There is considerable evidence that this loss-of-functionlike mechanism is a key contributor to the pathogenesis of myotonic dystrophy (Miller et al 2000). Although myotonic dystrophy is primarily characterized by muscle weakness along with cardiac and neurological abnormalities (Udd and Krahe 2012), a higher incidence of primary tumor development in individuals affected with myotonic dystrophy has been observed (Gadalla et al 2011;Win et al 2012). In light of our findings concerning a suppressive role for MBNL1 in cancer progression, future studies into metastatic relapse outcomes in these myotonic dystrophy patients are warranted.…”

Section: Discussionmentioning

confidence: 99%

Muscleblind-like 1 suppresses breast cancer metastatic colonization and stabilizes metastasis suppressor transcripts

et al. 2016

View full text Add to dashboard Cite

Post-transcriptional deregulation is a defining feature of metastatic cancer. While many microRNAs have been implicated as regulators of metastatic progression, less is known about the roles and mechanisms of RNA-binding proteins in this process. We identified muscleblind-like 1 (MBNL1), a gene implicated in myotonic dystrophy, as a robust suppressor of multiorgan breast cancer metastasis. MBNL1 binds the 3 ′ untranslated regions (UTRs) of DBNL (drebrin-like protein) and TACC1 (transforming acidic coiled-coil containing protein 1)-two genes that we implicate as metastasis suppressors. By enhancing the stability of these genes' transcripts, MBNL1 suppresses cell invasiveness. Consistent with these findings, elevated MBNL1 expression in human breast tumors is associated with reduced metastatic relapse likelihood. Our findings delineate a post-transcriptional network that governs breast cancer metastasis through RNA-binding protein-mediated transcript stabilization.

show abstract

Section: Discussionmentioning

confidence: 99%

Muscleblind-like 1 suppresses breast cancer metastatic colonization and stabilizes metastasis suppressor transcripts

et al. 2016

View full text Add to dashboard Cite

show abstract

“…Specifically, there is an increased risk of developing brain, ovarian, and colon cancer, endometrial thyroid tumours, and choroidal melanoma [13,14] . Concerning benign skin tumours, the association with pilomatrixomas is well known.…”

Section: Discussionmentioning

confidence: 99%

Cutaneous Neoplasms in Myotonic Dystrophy Type 1

Marcoval¹,

Olivé

Bonfill-Ortí³

et al. 2016

Dermatology

View full text Add to dashboard Cite

Background: The most frequent skin features associated with myotonic dystrophy type 1 (DM1) are frontal alopecia and pilomatrixomas. Several reports suggest that the incidence of basal cell carcinoma is increased in DM1. However, two recently published studies examining this topic have contradictory results. Objective: To retrospectively study the incidence of cutaneous tumours in patients with DM1. Methods: The clinical features of 102 Caucasian patients diagnosed with DM1 at Bellvitge Hospital in Barcelona, Spain, were retrospectively analysed. Clinical charts of the patients were reviewed, and cutaneous tumours diagnosed in our hospital were recorded. A group of 103 Caucasian patients matched for age and sex were used as the control group. Results: A total of 56 male and 46 female patients with DM1 were included in the study (mean age 49.07 years, SD 13.02). At least 1 basal cell carcinoma was diagnosed in 6 patients in the DM1 group versus 3 patients in the control group (p = 0.332). The mean age at diagnosis of the first basal cell carcinoma was 51 years compared with 66 years in the control group (p = 0.035). Five patients with DM1 presented pilomatrixomas versus none in the control group (p = 0.029). We did not detect any melanoma in our DM1 patients. Conclusion: Basal cell carcinomas appeared at a significantly younger age in our DM1 patients than in the general population, and this suggests that, at least in some patients, DM1 may predispose to the development of basal cell carcinomas.

show abstract

“…Delays in diagnoses also impact critical care of DM. More awareness is needed of treatment and preventative care for anesthesia risks [10, 39–41], cardiac conduction disorders and sudden death [42–46], and potential increased rates of certain cancers in DM [47–50]. …”

Section: Discussionmentioning

confidence: 99%

Diagnostic odyssey of patients with myotonic dystrophy

et al. 2013

View full text Add to dashboard Cite

The onset and symptoms of the myotonic dystrophies are diverse, complicating their diagnoses and limiting a comprehensive approach to their clinical care. This report analyzes the diagnostic delay (time from onset of first symptom to diagnosis) in a large sample of myotonic dystrophy (DM) patients enrolled in the US National Registry [679 DM type 1 (DM1) and 135 DM type 2 (DM2) patients]. Age of onset averaged 34.0 ± 14.1 years in DM2 patients compared to 26.1 ± 13.2 years in DM1 (p<0.0001). The most common initial symptom in DM2 patients was leg weakness (32.6%) compared to grip myotonia in DM1 (38.3%). Pain was reported as the first symptom in 11.1% of DM2 and 3.0% of DM1 patients (p<0.0001). Reaching the correct diagnosis in DM2 took 14 years on average (double the time compared to DM1) and a significantly higher percentage of patients underwent extended workup including electromyography, muscle biopsies, and finally genetic testing. DM patients who were index cases experienced similar diagnostic delays to non-index cases of DM. Further evaluation of how to shorten these diagnostic delays and limit their impact on burdens of disease, family planning, and symptom management is needed.

show abstract

Increased Cancer Risks in Myotonic Dystrophy

Abstract: Patients with myotonic dystrophy may have an increased risk of thyroid cancer and choroidal melanoma and, possibly, testicular and prostate cancers.

Cited by 86 publications

References 26 publications

Muscleblind-like 1 suppresses breast cancer metastatic colonization and stabilizes metastasis suppressor transcripts

Muscleblind-like 1 suppresses breast cancer metastatic colonization and stabilizes metastasis suppressor transcripts

Cutaneous Neoplasms in Myotonic Dystrophy Type 1

Diagnostic odyssey of patients with myotonic dystrophy

Contact Info

Product

Resources

About