Rhabdomyosarcoma in a Patient With Duchenne Muscular Dystrophy: A Possible Association

Chandler, Erika; Rawson, Lauren; Dębski, Robert; McGowan, Kerry; Lakhotia, Arpita

doi:10.1177/2329048x211041471

Cited by 5 publications

(4 citation statements)

References 15 publications

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“…It is worth noting that recent studies identified increased frequency of rhabdomyosarcomas in DMD patients [56,57] which agrees with previous data on spontaneous rhabdomyosarcomas in dystrophic mice [58].…”

Section: Discussionsupporting

confidence: 91%

Downregulation of Dystrophin Expression Occurs across Diverse Tumors, Correlates with the Age of Onset, Staging and Reduced Survival of Patients

Alnassar

Borczyk

Tsagkogeorga

et al. 2023

Cancers

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Altered dystrophin expression was found in some tumors and recent studies identified a developmental onset of Duchenne muscular dystrophy (DMD). Given that embryogenesis and carcinogenesis share many mechanisms, we analyzed a broad spectrum of tumors to establish whether dystrophin alteration evokes related outcomes. Transcriptomic, proteomic, and mutation datasets from fifty tumor tissues and matching controls (10,894 samples) and 140 corresponding tumor cell lines were analyzed. Interestingly, dystrophin transcripts and protein expression were found widespread across healthy tissues and at housekeeping gene levels. In 80% of tumors, DMD expression was reduced due to transcriptional downregulation and not somatic mutations. The full-length transcript encoding Dp427 was decreased in 68% of tumors, while Dp71 variants showed variability of expression. Notably, low expression of dystrophins was associated with a more advanced stage, older age of onset, and reduced survival across different tumors. Hierarchical clustering analysis of DMD transcripts distinguished malignant from control tissues. Transcriptomes of primary tumors and tumor cell lines with low DMD expression showed enrichment of specific pathways in the differentially expressed genes. Pathways consistently identified: ECM-receptor interaction, calcium signaling, and PI3K-Akt are also altered in DMD muscle. Therefore, the importance of this largest known gene extends beyond its roles identified in DMD, and certainly into oncology.

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Section: Discussionsupporting

confidence: 91%

Downregulation of Dystrophin Expression Occurs across Diverse Tumors, Correlates with the Age of Onset, Staging and Reduced Survival of Patients

Alnassar

Borczyk

Tsagkogeorga

et al. 2023

Cancers

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show abstract

“…Further, only a few case reports of rhabdomyosarcoma in patients with Duchenne muscular dystrophy (DMD) have been published. [3][4][5] Therefore, it is challenging to assess the toxicity of multidisciplinary treatment in patients with muscular dystrophy based on previous reports. In the current case, multimodal therapy was feasible because her respiratory and cardiac functions were normal.…”

Section: Feasibility Of Multimodal Therapy For Rhabdomyosarcoma In a ...mentioning

confidence: 99%

Feasibility of multimodal therapy for rhabdomyosarcoma in a patient with Fukuyama congenital muscular dystrophy

Sugiyama,

Arakawa,

Iwata

et al. 2024

Pediatric Blood & Cancer

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“…However, its altered expression has been observed in dystrophic muscular cells [ 65 , 66 ]. Of note, mouse models for muscular dystrophy are prone to myogenic tumors [ 67 ] and human patients with Duchenne muscular dystrophy present high susceptibility of developing rhabdomyosarcoma [ 68 ]. There is also evidence that muscle stem cells can give rise to rhabdomyosarcoma in dystrophic mice [ 69 ].…”

Section: Rbm24 In Cancer Developmentmentioning

confidence: 99%

RBM24 in the Post-Transcriptional Regulation of Cancer Progression: Anti-Tumor or Pro-Tumor Activity?

Shi

2022

Cancers

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RNA-binding proteins are critical post-transcriptional regulators of gene expression. They are implicated in a wide range of physiological and pathological processes by modulating nearly every aspect of RNA metabolisms. Alterations in their expression and function disrupt tissue homeostasis and lead to the occurrence of various cancers. RBM24 is a highly conserved protein that binds to a large spectrum of target mRNAs and regulates many post-transcriptional events ranging from pre-mRNA splicing to mRNA stability, polyadenylation and translation. Studies using different animal models indicate that it plays an essential role in promoting cellular differentiation during organogenesis and tissue regeneration. Evidence is also accumulating that its dysregulation frequently occurs across human cancers. In several tissues, RBM24 clearly functions as a tumor suppressor, which is consistent with its inhibitory potential on cell proliferation. However, upregulation of RBM24 in other cancers appears to promote tumor growth. There is a possibility that RBM24 displays both anti-tumor and pro-tumor activities, which may be regulated in part through differential interactions with its protein partners and by its post-translational modifications. This makes it a potential biomarker for diagnosis and prognosis, as well as a therapeutic target for cancer treatment. The challenge remains to determine the post-transcriptional mechanisms by which RBM24 modulates gene expression and tumor progression in a context- or background-dependent manner. This review discusses recent findings on the potential function of RBM24 in tumorigenesis and provides future directions for better understanding its regulatory role in cancer cells.

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Rhabdomyosarcoma in a Patient With Duchenne Muscular Dystrophy: A Possible Association

Cited by 5 publications

References 15 publications

Downregulation of Dystrophin Expression Occurs across Diverse Tumors, Correlates with the Age of Onset, Staging and Reduced Survival of Patients

Downregulation of Dystrophin Expression Occurs across Diverse Tumors, Correlates with the Age of Onset, Staging and Reduced Survival of Patients

Feasibility of multimodal therapy for rhabdomyosarcoma in a patient with Fukuyama congenital muscular dystrophy

RBM24 in the Post-Transcriptional Regulation of Cancer Progression: Anti-Tumor or Pro-Tumor Activity?

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