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

The Journal of Investigative Dermatology
J L ArbiserM Peter Marinkovich

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.

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Citations

Dec 17, 2008·Pharmacogenomics·George W M Millington
Oct 21, 2014·Future Medicinal Chemistry·Michael Y Bonner, Jack L Arbiser
Jan 24, 2016·The Journal of Investigative Dermatology·Jouni UittoE Clare Robinson
Jun 1, 2011·Journal of the American Academy of Dermatology·Wing Yan Yuen, Marcel F Jonkman
Feb 1, 2011·Seminars in Cutaneous Medicine and Surgery·Helen C HaliasosAshfaq A Marghoob
Jan 1, 2008·Advances in Dermatology·Levi E Fried, Jack L Arbiser
Apr 16, 2010·The Journal of Investigative Dermatology·Jouni UittoE Clare Robinson
Aug 21, 2013·The Journal of Investigative Dermatology·Leena Bruckner-TudermanJouni Uitto
Sep 8, 2007·International Journal of Dermatology·S Murat-SusićA Kljenak
May 8, 2010·Dermatologic Clinics·Supriya S Venugopal, Dédée F Murrell
Oct 21, 2006·Journal of the American Academy of Dermatology·Jack L ArbiserFiona O'Reilly
Oct 8, 2005·Seminars in Oncology·Remco van DoornCornelis P Tensen
Jan 28, 2017·Matrix Biology : Journal of the International Society for Matrix Biology·Liliana GuerraDaniele Castiglia
Apr 19, 2017·Experimental Dermatology·Israr AhmadNabiha Yusuf
Feb 8, 2005·The Journal of Biological Chemistry·Baskaran GovindarajanJack L Arbiser
Jul 10, 2010·Current Opinion in Pediatrics·Jo-David Fine
Oct 12, 2011·Photochemical & Photobiological Sciences : Official Journal of the European Photochemistry Association and the European Society for Photobiology·I-Peng ChenRüdiger Greinert
Aug 22, 2017·NPJ Precision Oncology·Jack L ArbiserLinda C Gilbert
Mar 19, 2005·Science·Stuart H Yuspa, Ervin H Epstein

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