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

Assistance Publique - Hôpitaux de Paris66 enrolled

Overview

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

Study Type

OBSERVATIONAL

Enrollment

Conditions

Recessive Dystrophic Epidermolysis Bullosa

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

Inclusion Criteria: * for RDEB patients with a SCC : 1. aged older than 18 years old 2. one or more SCC surgically treated 3. signed genetic consent form * for non-RDEB patients with a SCC induced by ultraviolet radiation : 1. aged older than 18 years old 2. one or more SCC induced by ultraviolet radiation 3. signed genetic consent form Exclusion Criteria: * under protection by law (tutorship or curatorship) * without health insurance coverage

Outcomes

Primary Outcomes

Secondary Outcomes

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).

Time frame: 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)