Epidemiology and natural history of cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients: 20 years’ experience of a reference centre in Spain

Castelo, Beatriz; Viñal, David; Maseda, R.; Ostios, L.; Sánchez, D.; García-Salvatierra, B.; Escámez, M.J.; Martínez-Santamaría, Lucía; Río, Marcela Del; Mora-Rillo, Marta; Vilches, Y.; Beato, María; Gutiérrez, Juan Carlos López; Santos, Cristina; Miranda, Jesús; Lucas, R. de

doi:10.1007/s12094-019-02073-3

Cited by 13 publications

(26 citation statements)

References 16 publications

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“…cutaneous squamous cell carcinoma (cScc) is one of the most common skin malignancies, accounting for 25-35% of all skin cancer types (1). The extent of tumor infiltration and metastasis greatly influences the clinical stage and prognosis of the disease; and although numerous treatment options are available for cScc, including surgical excision, radiotherapy, photodynamic therapy and topical drug treatment, the prognosis of invasive and metastatic cScc remains relatively poor and is associated with substantial levels of mortality (2).…”

Section: Introductionmentioning

confidence: 99%

“…The extent of tumor infiltration and metastasis greatly influences the clinical stage and prognosis of the disease; and although numerous treatment options are available for CSCC, including surgical excision, radiotherapy, photodynamic therapy and topical drug treatment, the prognosis of invasive and metastatic CSCC remains relatively poor and is associated with substantial levels of mortality ( 2 ). Furthermore, the incidence of CSCC continues to increase, which is largely due to the increased prevalence of risk factors including older populations, immunosuppression, chronic sun exposure and sensitivity to sunlight or ultraviolet radiation ( 1 , 3 ).…”

Section: Introductionmentioning

confidence: 99%

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Silencing circRNA_001937 may inhibit cutaneous squamous cell carcinoma proliferation and induce apoptosis by preventing the sponging of the miRNA‑597‑3p/FOSL2 pathway

et al. 2020

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circular RNAs (circRNAs) are reported to be aberrantly expressed and perform different functions in numerous types of tumor; however, their expression levels in cutaneous squamous cell carcinoma (cScc) remain largely unclear. Thus, the purpose of the present study was to investigate the function of circRNA_001937 in cScc. differential circRNA expression profiles of CSCC were analyzed using the Arraystar Human circRNAs chip and reverse transcription-quantitative PcR (RT-qPcR); and the effects of circRNA_001937 on cell behavior, in particular its regulation over the microRNA (miRNA)-597-3p/Fos-related antigen 2 (FOSL2) pathway, was investigated using a dual-luciferase reporter assay, and verified using RT-qPCR and western blotting. circRNA_001937 expression levels were significantly increased in CSCC tissues and cell lines compared with the corresponding adjacent tissues and control cells (P<0.05). The genetic silencing of circRNA_001937 with small interfering RNA significantly inhibited cell proliferation, and induced cell apoptosis (P<0.05). circRNA_001937 was observed to directly bind to miRNA-597-3p and serve as a sponge, which indirectly increased the expression levels of FOSL2, a miRNA-597-3p target gene. In conclusion, circRNA_001937 expression was increased in cScc and silencing circRNA_001937 gene expression may inhibit cScc progression by sponging the miRNA-597-3p/FOSL2 pathway.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Silencing circRNA_001937 may inhibit cutaneous squamous cell carcinoma proliferation and induce apoptosis by preventing the sponging of the miRNA‑597‑3p/FOSL2 pathway

et al. 2020

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“…The median number of SCC sites per patient was 3-3.5 (range: 1 to 40 sites). Median age at diagnosis, provided in a singlecenter study of 14 RDEB patients with SCC in Spain, was 24 years [64].…”

Section: Squamous Cell Carcinomamentioning

confidence: 99%

A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa

Tang¹,

Marinkovich²,

Lucas³

et al. 2021

Orphanet J Rare Dis

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Background/objective Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic collagen disorder characterized by skin fragility leading to blistering, wounds, and scarring. There are currently no approved curative therapies. The objective of this manuscript is to provide a comprehensive literature review of the disease burden caused by RDEB. Methods A systematic literature review was conducted in MEDLINE and Embase in accordance with PRISMA guidelines. Observational and interventional studies on the economic, clinical, or humanistic burden of RDEB were included. Results Sixty-five studies were included in the review. Patients had considerable wound burden, with 60% reporting wounds covering more than 30% of their body. Increases in pain and itch were seen with larger wound size. Chronic wounds were larger and more painful than recurrent wounds. Commonly reported symptoms and complications included lesions and blistering, anemia, nail dystrophy and loss, milia, infections, musculoskeletal contractures, strictures or stenoses, constipation, malnutrition/nutritional problems, pseudosyndactyly, ocular manifestations, and dental caries. Many patients underwent esophageal dilation (29–74%; median dilations, 2–6) and gastrostomy tube placement (8–58%). In the severely affected population, risk of squamous cell carcinoma (SCC) was 76% and mortality from SCC reached 84% by age 40. Patients with RDEB experienced worsened quality of life (QOL), decreased functioning and social activities, and increased pain and itch when compared to other EB subtypes, other skin diseases, and the general population. Families of patients reported experiencing high rates of burden including financial burden (50–54%) and negative impact on private life (79%). Direct medical costs were high, though reported in few studies; annual payer-borne total medical costs in Ireland were $84,534 and annual patient-borne medical costs in Korea were $7392. Estimated annual US costs for wound dressings ranged from $4000 to $245,000. Patients spent considerable time changing dressings: often daily (13–54% of patients) with up to three hours per change (15–40%). Conclusion Patients with RDEB and their families/caregivers experience significant economic, humanistic, and clinical burden. Further research is needed to better understand the costs of disease, how the burden of disease changes over the patient lifetime and to better characterize QOL impact, and how RDEB compares with other chronic, debilitating disorders.

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“…As a result, alterations in the anchoring fibrils (AF) (1) cause fragility and lifelong blistering below the basement membrane which is the hallmark of the disease. Never-ending healing and progressive scarring continuously triggered by the generation of new blisters, lead to chronic wounds characterized by increased bacterial colonization, fibrosis, and inflammation, which eventually evolve as a systemic condition with an increased risk of developing cutaneous squamous cell carcinoma (2)(3)(4)(5)(6)(7)(8)(9)(10). Current RDEB treatments are palliative.…”

Section: Introductionmentioning

confidence: 99%

Beneficial Effect of Systemic Allogeneic Adipose Derived Mesenchymal Cells on the Clinical, Inflammatory and Immunologic Status of a Patient With Recessive Dystrophic Epidermolysis Bullosa: A Case Report

et al. 2020

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Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable inherited mucocutaneous fragility disorder characterized by recurrent blisters, erosions, and wounds. Continuous blistering triggers overlapping cycles of never-ending healing and scarring commonly evolving to chronic systemic inflammation and fibrosis. The systemic treatment with allogeneic mesenchymal cells (MSC) from bone marrow has previously shown benefits in RDEB. MSC from adipose tissue (ADMSC) are easier to isolate. This is the first report on the use of systemic allogeneic ADMSC, correlating the clinical, inflammatory, and immunologic outcomes in RDEB indicating long-lasting benefits. We present the case of an RDEB patient harboring heterozygous biallelic COL7A1 gene mutations and with a diminished expression of C7. The patient presented with long-lasting refractory and painful oral ulcers distressing her quality of life. Histamine receptor antagonists, opioid analgesics, proton-pump inhibitors, and low-dose tricyclic antidepressants barely improved gastric symptoms, pain, and pruritus. Concomitantly, allogeneic ADMSC were provided as three separate intravenous injections of 106 cells/kg every 21 days. ADMSC treatment was well-tolerated. Improvements in wound healing, itch, pain and quality of life were observed, maximally at 6–9 months post-treatment, with the relief of symptoms still noticeable for up to 2 years. Remarkably, significant modifications in PBL participating in both the innate and adaptive responses, alongside regulation of levels of profibrotic factors, MCP-1/CCL2 and TGF-β, correlated with the health improvement. This treatment might represent an alternative for non-responding patients to conventional management. It seems critical to elucidate the paracrine modulation of the immune system by MSC for their rational use in regenerative/immunoregulatory therapies.

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Epidemiology and natural history of cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients: 20 years’ experience of a reference centre in Spain

Cited by 13 publications

References 16 publications

Silencing circRNA_001937 may inhibit cutaneous squamous cell carcinoma proliferation and induce apoptosis by preventing the sponging of the miRNA‑597‑3p/FOSL2 pathway

Silencing circRNA_001937 may inhibit cutaneous squamous cell carcinoma proliferation and induce apoptosis by preventing the sponging of the miRNA‑597‑3p/FOSL2 pathway

A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa

Beneficial Effect of Systemic Allogeneic Adipose Derived Mesenchymal Cells on the Clinical, Inflammatory and Immunologic Status of a Patient With Recessive Dystrophic Epidermolysis Bullosa: A Case Report

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