Involvement of p53 and p16 tumor suppressor genes in recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma

Jack L. Arbiser, Chun Yang Fan, Xiaobo Su, Beth O. Van Emburgh, Francesca Cerimele, Mark Steven Miller, Jeff Harvell, M. Peter Marinkovich

Research output: Contribution to journalArticle

36 Citations (Scopus)

Abstract

Recessive dystrophic epidermolysis bullosa (RDEB) is an autosomal recessive disorder characterized by the loss of collagen type VII, an intrinsic component of the anchoring fibrils, which attach the epidermis to the dermis. Of the genetic blistering disorders, RDEB has the highest rate of morbidity and mortality, with morbidity arising from fusion of digits in a mitten-glove deformity and growth retardation associated with anemia. The leading cause of death in RDEB is cutaneous squamous cell carcinoma, which causes death through invasion and metastasis. In order to better understand the pathogenesis of these rare but aggressive squamous cell carcinoma (SCC), we analyzed them for mutations in p53 and loss of p16ink4a. Three tumors demonstrated mutations in the p53 tumor suppressor gene. We also analyzed SCC from patients with RDEB for the presence of p16ink4a hypermethylation, and found two tumors that have loss of p16ink4a through hypermethylation. This is the first description of specific abnormalities in tumor suppressor genes in RDEB associated SCC, and demonstrates that alterations in both p53 and p16ink4a can contribute to RDEB associated SCC.

Original languageEnglish
Pages (from-to)788-790
Number of pages3
JournalJournal of Investigative Dermatology
Volume123
Issue number4
DOIs
Publication statusPublished - Oct 2004

Fingerprint

Epidermolysis Bullosa Dystrophica
Tumor Suppressor Genes
Tumors
Squamous Cell Carcinoma
Genes
Collagen Type VII
Cause of Death
Morbidity
Mutation
Inborn Genetic Diseases
Dermis
Epidermis
Fusion reactions
Epithelial Cells
Anemia
Neoplasms
Neoplasm Metastasis
Skin
Mortality
Growth

Keywords

  • Carcinoma
  • Epidermolysis bullosa
  • Tumor suppressor

ASJC Scopus subject areas

  • Dermatology

Cite this

Involvement of p53 and p16 tumor suppressor genes in recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma. / Arbiser, Jack L.; Fan, Chun Yang; Su, Xiaobo; Van Emburgh, Beth O.; Cerimele, Francesca; Miller, Mark Steven; Harvell, Jeff; Marinkovich, M. Peter.

In: Journal of Investigative Dermatology, Vol. 123, No. 4, 10.2004, p. 788-790.

Research output: Contribution to journalArticle

Arbiser, Jack L. ; Fan, Chun Yang ; Su, Xiaobo ; Van Emburgh, Beth O. ; Cerimele, Francesca ; Miller, Mark Steven ; Harvell, Jeff ; Marinkovich, M. Peter. / Involvement of p53 and p16 tumor suppressor genes in recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma. In: Journal of Investigative Dermatology. 2004 ; Vol. 123, No. 4. pp. 788-790.
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