Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression

Celine Pourreyron, Georgie Cox, Xin Mao, Andreas Volz, Nuzhat Baksh, Tracy Wong, Hiva Fassihi, Ken Arita, Edel A. O'Toole, Jorge Ocampo-Candiani, Mei Chen, Ian R. Hart, Leena Bruckner-Tuderman, Julio C. Salas-Alanis, John A. McGrath, Irene M. Leigh, Andrew P. South

Research output: Contribution to journalArticle

41 Citations (Scopus)

Abstract

Recent data suggest that individuals with recessive dystrophic epidermolysis bullosa (RDEB) only develop squamous-cell carcinoma (SCC) in the presence of the NC1 domain of type VII collagen. This conclusion was based on experimental work in which cryosections of SCCs from 10 people with RDEB all showed positive type VII collagen immunostaining and observations in a murine model of SCC development in which tumors only occurred using keratinocytes from RDEB subjects that expressed detectable levels of the NC1 domain of the type VII collagen protein. To assess whether the clinical interpretation was valid in another cohort of RDEB patients, we examined expression of type VII collagen in 17 SCC tumors excised from 11 patients. Indirect immunofluorescent staining of SCC cryosections and Western blotting of cultured keratinocyte lysates identified two RDEB individuals who did not express detectable levels of type VII collagen. Mutation analysis revealed that these two patients harbor compound heterozygous nonsense mutations within the region of the COL7A1 gene encoding the NC1 domain. These data suggest that individuals with RDEB can develop SCC regardless of type VII collagen expression and that additional factors have a role in explaining the high incidence of tumors complicating this genodermatosis. © 2007 The Society for Investigative Dermatology.
Original languageEnglish
Pages (from-to)2438-2444
Number of pages7
JournalJournal of Investigative Dermatology
DOIs
Publication statusPublished - 1 Oct 2007
Externally publishedYes

    Fingerprint

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Dermatology
  • Cell Biology

Cite this

Pourreyron, C., Cox, G., Mao, X., Volz, A., Baksh, N., Wong, T., Fassihi, H., Arita, K., O'Toole, E. A., Ocampo-Candiani, J., Chen, M., Hart, I. R., Bruckner-Tuderman, L., Salas-Alanis, J. C., McGrath, J. A., Leigh, I. M., & South, A. P. (2007). Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression. Journal of Investigative Dermatology, 2438-2444. https://doi.org/10.1038/sj.jid.5700878