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J Invest Dermatol ; 144(7): 1534-1543.e2, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38272206

RESUMO

Recessive dystrophic epidermolysis bullosa (RDEB) is a severely debilitating disorder caused by pathogenic variants in COL7A1 and is characterized by extreme skin fragility, chronic inflammation, and fibrosis. A majority of patients with RDEB develop squamous cell carcinoma, a highly aggressive skin cancer with limited treatment options currently available. In this study, we utilized an approach leveraging whole-genome sequencing and RNA sequencing across 3 different tissues in a single patient with RDEB to gain insight into possible mechanisms of RDEB-associated squamous cell carcinoma progression and to identify potential therapeutic options. As a result, we identified PLK-1 as a possible candidate for targeted therapy and discovered microsatellite instability and accelerated aging as factors potentially contributing to the aggressive nature and early onset of RDEB squamous cell carcinoma. By integrating multitissue genomic and transcriptomic analyses in a single patient, we demonstrate the promise of bridging the gap between genomic research and clinical applications for developing tailored therapies for patients with rare genetic disorders such as RDEB.


Assuntos
Carcinoma de Células Escamosas , Colágeno Tipo VII , Epidermólise Bolhosa Distrófica , Instabilidade de Microssatélites , Neoplasias Cutâneas , Humanos , Envelhecimento/genética , Envelhecimento/patologia , Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/patologia , Colágeno Tipo VII/genética , Epidermólise Bolhosa Distrófica/genética , Epidermólise Bolhosa Distrófica/patologia , Pele/patologia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Sequenciamento Completo do Genoma
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