Harrs, Clara-Maria (2020) Squamous cell carcinoma in epidermolysis bullosa: First analysis of clinical outcome and tumour characteristics of all EB patients in Dutch EB Registry. thesis, Medicine.
Full text available on request.Abstract
Epidermolysis bullosa (EB) is a group of rare genetic disorders characterized by blister formation of mucocutaneous membranes. A serious complication is the development of aggressive cutaneous squamous cell carcinoma (cSCC), which has a high tendency for metastasis and local relapse despite extensive resections and is the leading cause of death in these patients. To date, limited data about cSCC development in EB-patients is available, highlighting the need for analysis of well-characterized national EB registries. Therefore, the aim of this study was to analyse the epidemiology, clinical outcome, and tumour characteristics of cSCC within the national EB Registry of the only expertise centre in the Netherlands (Dutch-EB-Reg). In this retrospective observational study, all EB-patients with cSCC registered at the Dutch-EB-Reg from 1988 until 2020 were included. Patient and tumour characteristics were gathered from diagnostic data, including histopathological analysis and genetic diagnostics. 22 of 578 EB-patients developed at least one cSCC and 78 histologically confirmed cSCCs were diagnosed in the Dutch-EB-Reg, making this study group the largest European cohort of EB-patients with cSCC reported so far. It was shown that cSCC is not only a life-threatening complication in subtypes well-known for cSCC, but also in less severe EB subtypes and that cSCC in all EB subtypes behaves aggressively despite the absence of histopathological risk factors. The findings of this study highlight the important role of referral centres to centralize all EB subtypes and set up national registries, to compare data from different cohorts and thereby simplify research in this orphan disease.
| Item Type: | Thesis (UNSPECIFIED) |
|---|---|
| Supervisor name: | dr. Diercks, G.F.H. (Gilles) and dr. Bolling, M.C. (Marieke) |
| Faculty: | Medical Sciences |
| Date Deposited: | 09 Oct 2023 11:22 |
| Last Modified: | 09 Oct 2023 11:22 |
| URI: | https://umcg.studenttheses.ub.rug.nl/id/eprint/3700 |
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