Molecular Signatures of Cutaneous Squamous Cell Carcinoma During Recessive Dystrophic Epidermolysis Bullosa
试验速览
- 阶段
- 不适用
- 入组人数
- 66
- 主要终点
- Characterize the molecular signatures in the cSCC and the peri-tumoral dystrophic area occurring in RDEB patients
研究概览
简要总结
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
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Other
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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
排除标准
- •under protection by law (tutorship or curatorship)
- •without health insurance coverage
结局指标
主要结局
Characterize the molecular signatures in the cSCC and the peri-tumoral dystrophic area occurring in RDEB patients
时间窗: at inclusion
Molecular signatures will be assessed by genomic, transcriptomic, and proteomic analyses
次要结局
- Comparison of molecular signatures between cSCC from RDEB patients versus cSCC from non-RDEB patients (induced by ultraviolet radiation)(at inclusion)
- Comparison of molecular signature according to the aggressive evolution(at inclusion)