Frequency and type of cancers in myotonic dystrophy: A retrospective cross‐sectional study

D’Ambrosio, Eleonora S.; Chuang, Kathy; David, William S.; Amato, Anthony A.; González-Pérez, Paloma

doi:10.1002/mus.27801

Cited by 8 publications

(6 citation statements)

References 47 publications

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“…The more relevant results of our study show that boldine is capable of reducing the functional phenotypes of DM1, connected to premature aging and muscle dysfunction features. Patients with DM1 experience a higher risk of cancer and progressive dysfunction of various systems, hence its resemblance to a progeroid syndrome [ 43 , 44 , 45 ]. In DM1 model flies, continued treatment with boldine resulted in a marked improvement in longevity ( Figure 2 ).…”

Section: Discussionmentioning

confidence: 99%

Natural Compound Boldine Lessens Myotonic Dystrophy Type 1 Phenotypes in DM1 Drosophila Models, Patient-Derived Cell Lines, and HSALR Mice

Alvarez-Abril

Garcia-Alcover

Colonques-Bellmunt

et al. 2023

IJMS

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Myotonic dystrophy type 1 (DM1) is a complex rare disorder characterized by progressive muscle dysfunction, involving weakness, myotonia, and wasting, but also exhibiting additional clinical signs in multiple organs and systems. Central dysregulation, caused by an expansion of a CTG trinucleotide repeat in the DMPK gene’s 3’ UTR, has led to exploring various therapeutic approaches in recent years, a few of which are currently under clinical trial. However, no effective disease-modifying treatments are available yet. In this study, we demonstrate that treatments with boldine, a natural alkaloid identified in a large-scale Drosophila-based pharmacological screening, was able to modify disease phenotypes in several DM1 models. The most significant effects include consistent reduction in nuclear RNA foci, a dynamic molecular hallmark of the disease, and noteworthy anti-myotonic activity. These results position boldine as an attractive new candidate for therapy development in DM1.

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Section: Discussionmentioning

confidence: 99%

Natural Compound Boldine Lessens Myotonic Dystrophy Type 1 Phenotypes in DM1 Drosophila Models, Patient-Derived Cell Lines, and HSALR Mice

Alvarez-Abril

Garcia-Alcover

Colonques-Bellmunt

et al. 2023

IJMS

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“…Det er også beskrevet en betydelig andel med urininkontinens (22). Dystrofia myotonika type 1 gir også økt risiko for kreft, uten at det er utarbeidet egne screeningprogrammer for pasientgruppen (23).…”

Section: Andre Symptomer Og Funnunclassified

Myotonic dystrophy type 1 – a multiorgan disorder

Ørstavik,

Solbakken,

Rasmussen

et al. 2024

Tidsskriftet

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Seksjon for sjeldne nevromuskulaere tilstander Oslo universitetssykehus og Enhet for medfødte og arvelige nevromuskulaere tilstander Oslo universitetssykehus, Rikshospitalet Forfatterbidrag: idé, manusutkast, innsamling av innspill, manusbearbeiding og godkjenning av innsendte versjon. Kristin Ørstavik er dr.med., spesialist i nevrologi og klinisk nevrofysiologi og seksjonsoverlege. Hun har lang erfaring i oppfølging og behandling av pasienter med sjeldne nevromuskulaere tilstander og er veileder for flere ph.d.-studier om dystrofia myotonika type 1. Forfatteren har fylt ut ICMJE-skjemaet og oppgir ingen interessekonflikter.Avdeling for nevrologi, revmatologi og rehabilitering Drammen sykehus, Vestre Viken Forfatterbidrag: innspill til manus, manusbearbeiding og godkjenning av innsendte versjon. Gro Solbakken er ph.d., spesialfysioterapeut, spesialist i nevrologisk fysioterapi. Hun har lang erfaring med tverrfaglig oppfølging av pasienter med sjeldne nevromuskulaere tilstander, og hennes doktorgradsavhandling omhandlet dystrofia myotonika type 1. Forfatteren har fylt ut ICMJE-skjemaet og oppgir ingen interessekonflikter.

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“…D’Ambrosio et al . [25 ▪ ] recently reported retrospective data on the cancer risk in a cohort of patients with myotonic dystrophy, including 67 DM2 patients. They found an elevated cancer risk in both DM1 and DM2, with DM2 patients showing an increased risk of non–sex-related cancers, for example, thyroid, urologic, haematological, and nonmelanoma skin cancers.…”

Section: Cancer Riskmentioning

confidence: 99%

The current clinical perception of myotonic dystrophy type 2

Kleefeld,

Schoser

2023

Current Opinion in Neurology

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Purpose of review Myotonic dystrophy type 2 (DM2) is a genetic disorder belonging to the spectrum of myotonic dystrophies. DM2 is characterized by progressive muscle weakness, wasting and muscle pain (myalgia), but can also affect many other organ systems. In this review, we provide an updated overview on the research literature on DM2 with a focus on the management of multisystemic involvement and atypical clinical phenotypes. Recent findings Recent studies have focused on different aspects of multisystemic involvement. Early and severe cardiac involvement can occur in DM2 and needs to be managed appropriately. Diabetes has been shown to be more common in DM2 than in DM1, while a combination of symptoms (cataracts, myotonia, tremor) can be used to raise clinical suspicion and initiate genetic testing for DM2. Autoimmune disease has been shown to occur in up to one-third of DM2 patients, possibly due to altered immune pathways. New evidence also suggests a childhood-onset phenotype presenting with foot deformities. Summary The multisystemic aspects of the disease require a multidisciplinary approach for some patients, most likely even including state-of-the-art cardiac and brain imaging to detect and treat complications earlier. Of note, our concept of DM2 as an adult-onset disease is somewhat challenged by evidence suggesting a few pediatric DM2 patients and possibly anticipation, at least in some DM2 families. More studies, including larger cohorts, are needed to better understand this possible early-onset DM2 phenotype variant.

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Frequency and type of cancers in myotonic dystrophy: A retrospective cross‐sectional study

Cited by 8 publications

References 47 publications

Natural Compound Boldine Lessens Myotonic Dystrophy Type 1 Phenotypes in DM1 Drosophila Models, Patient-Derived Cell Lines, and HSALR Mice

Natural Compound Boldine Lessens Myotonic Dystrophy Type 1 Phenotypes in DM1 Drosophila Models, Patient-Derived Cell Lines, and HSALR Mice

Myotonic dystrophy type 1 – a multiorgan disorder

The current clinical perception of myotonic dystrophy type 2

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