Epidemiology and Outcome of Squamous Cell Carcinoma in Epidermolysis Bullosa in Australia and New Zealand

Abstract

We investigate the epidemiology and outcomes of squamous cell carcinoma (SCC) in recessive dystrophic epidermolysis bullosa (RDEB) from the Australasian EB registry cohort. Seventeen out of 49 (34.6%) RDEB patients developed at least one SCC. Data detailing SCC was obtainable from 16/17 RDEB-SCC patients. A total number of 161 primary SCCs occurred in 16 RDEB-SCC patients with a mean of 10 SCCs per person. The earliest age of first SCC development was 16 years. Eleven out of 16 RDEB-SCC patients eventually developed metastatic SCCs. The majority of the tumours were well and moderately differentiated. The cumulative risk of SCC development by age 35 was 76.1% for RDEB-Generalized Severe (RDEB-GS) and 10% for RDEB-Generalized Intermediate (RDEB-GI). Amongst those who developed SCCs, their median time to death after first SCC was 5 years for RDEB-GI and 4 years for RDEB-GS. This is the first retrospective study of RDEB-SCC in Australasia.

Epidermolysis Bullosa-Associated Squamous Cell Carcinoma: From Pathogenesis to Therapeutic Perspectives

“…On the other hand, the complexity of oncologic therapies in RDEB-SCC is well-testified by the ineffectiveness and even the paradox effect on new SCCs development of immunotherapy with an anti-PD1 molecule, pembrolizumab, which instead is FDA-approved for advanced progressing head and neck SCC [93]. Overall, current figures which report a mean survival time after the first SCC of 4 years in RDEB-SG clearly show the urgent need of novel, more effective therapeutic approaches for SCCs in RDEB patients [94].…”

A rede de apoio social no cuidado à doença rara e o protagonismo familiar

“…Foi então, que um dos funcionários entrou em contato com a família sugerindo uma forma de trabalho para o jovem. (Kim et al, 2018). Neste período, as narrativas do jovem demonstraram envolvimento e entusiasmo com a realização das palestras.…”

Raloxifene and n-Acetylcysteine Ameliorate TGF-Signalling in Fibroblasts from Patients with Recessive Dominant Epidermolysis Bullosa

“…Although levels of active TGF-β1 can be seen in different diseases, and may reflect processes such as wound-healing, active inflammation and autoimmune events, we propose here that active TGF-β1 might serve as a biomarker in the follow up of patients with RDEB; a possibility that would have to be evaluated in more detailed clinical trials under strict regulatory rules. Disease progression to carcinogenesis has been reviewed previously [42] and, in the case of RDEB, several studies have related age with the increase of SCC in patients with RDEB; this type of cancer representing the most serious complication of EB in adults, especially those with severe generalized RDEB in whom the median age of SCC onset is 30 years [43,44]. However, due to the heterogeneity in the ages of our patients, we cannot draw any correlation between TGF1 levels and the appearance of SCCs and more focused studies must be designed to study this in more detail.…”