Molecular Signatures of Cutaneous Squamous Cell Carcinoma During Recessive Dystrophic Epidermolysis Bullosa

Study Overview
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Brief Summary
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Recessive dystrophic epidermolysis bullosa (RDEB) is a hereditary skin disease characterized by cutaneous and mucosa fragility. Blister formations and erosions, resulting in chronic wounds and dystrophic scars, lead development of aggressive cutaneous squamous cell carcinoma (cSCC) in young subjects. cSCC in RDEB patients are often recurrent and sometimes aggressive. Although fibrotic and inflammatory microenvironment plays an important role in the tumoral process, specific mechanisms in cSCC of RDEB patients are still unknown. Actually, the only treatment is a wide surgical excision with poor prognostic (80% of death after the first occurrence of cSCC). The objective of the study is to describe the molecular signatures in the cSCC in RDEB patients

Official Title
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Molecular Signatures of Cutaneous Squamous Cell Carcinoma During Recessive Dystrophic Epidermolysis Bullosa

Conditions
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Recessive Dystrophic Epidermolysis Bullosa

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: for RDEB patients with a SCC : aged older than 18 years old one or more SCC surgically treated signed genetic consent form for non-RDEB patients with a SCC induced by ultraviolet radiation : aged older than 18 years old one or more SCC induced by ultraviolet radiation signed genetic consent form Exclusion Criteria: under protection by law (tutorship or curatorship) without health insurance coverage

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| RDEB patients with a cSCC<br> | |
| Non-RDEB patients with a SCC induced by ultraviolet radiation<br> | |
| Healthy donors without RDEB nor SCC<br> | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Characterize the molecular signatures in the cSCC and the peri-tumoral dystrophic area occurring in RDEB patients | Molecular signatures will be assessed by genomic, transcriptomic, and proteomic analyses | at inclusion | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Comparison of molecular signature according to the aggressive evolution | Molecular signatures will be assessed by genomic, transcriptomic, proteomic analyses and will be compared between RDEB patients with different clinical outcomes (cSCC with an aggressive and metastatic evolution versus cSCC without aggressive evolution at 3 months). | at inclusion | 
| Comparison of molecular signatures between cSCC from RDEB patients versus cSCC from non-RDEB patients (induced by ultraviolet radiation) | Molecular signatures will be assessed by genomic, transcriptomic, and proteomic analyses and will be compared between cSCC from RDEB patients versus cSCC from non-RDEB patients (induced by ultraviolet radiation) | at inclusion |