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Epidemiology and natural history of cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients: 20 years’ experience of a reference centre in Spain

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Abstract

Background

Cutaneous squamous cell carcinoma (cSCC) is the leading cause of death in patients with recessive dystrophic epidermolysis bullosa (RDEB). We provide the management and prognosis of cSCC in RDEB patients at a Spanish reference center.

Materials and methods

We retrospectively included patients with RDEB attended in La Paz University Hospital from November 1988 to October 2018.

Results

Fourteen patients developed at least one cSCC. Tumors were predominantly well differentiated. Nearly half of the tumors have recurred. Median time to first recurrence was 23.4 months (95% CI: 17.2–29.5). Five patients have developed distant metastases. Median overall survival (mOS) was 136.5 months since the diagnosis of the first cSCC (95% CI: 30.6–242.3). When distant metastases occurred, mOS was 6.78 months (95% CI: 1.94–11.61).

Conclusions

cSCC is a life-threatening complication of RDEB patients. Although tumors are usually well differentiated, they tend to relapse. This is the first Spanish report of cSCC arising in RDEB patients.

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Acknowledgements

The authors from UC3M-CIEMAT-CIBERER-IISFJD group are grateful for funding received from the Community of Madrid (AvanCell-CM: B2017/BMD-3692), from the European Union (GENEGRAFT: HEALTH-F2-2011-261392), from the Carlos III Institute of Health and ERDF, “Investing in your future” (AES_ICI14/00327- ICI14/00363), from ERDF/The Spanish Ministry of Science, Innovation and Universities – Agencia Estatal de Investigación (SAF2017-86810-R), and from the Patient Associations, Berritxuak and DEBRA-España.

Funding

This work has not been supported by public grants or financial support. No sources of funding were used to assist in the preparation of the manuscript.

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Authors and Affiliations

  1. Department of Medical Oncology, La Paz University Hospital, Paseo de la castellana 261, 28046, Madrid, Spain

    B. Castelo, D. Viñal, L. Ostios, D. Sánchez & J. Miranda

  2. Department of Dermatology, La Paz University Hospital, Madrid, Spain

    R. Maseda & R. de Lucas

  3. Department of Plastic Surgery, La Paz University Hospital, Madrid, Spain

    B. García-Salvatierra & J. C. López Gutiérrez

  4. Department of Bio-Engineering, Centro de Investigaciones Energéticas Medioambientales y Tecnológicas (CIEMAT), IIS-Fundación Jiménez Díaz (IISFJD), CIBER on Rare Diseases (U714 CIBERER-ISCIII), Carlos III University, Madrid (UC3M), Madrid, Spain

    M. J. Escámez, L. Martínez-Santamaría & M. Del Río

  5. Infectious Diseases Unit, Internal Medicine Department, La Paz University Hospital IdiPAZ, Madrid, Spain

    M. Mora-Rillo

  6. Department of Palliative Care, La Paz University Hospital, Madrid, Spain

    Y. Vilches

  7. Department of Pathology, La Paz University Hospital, Madrid, Spain

    M. J. Beato

  8. DEBRA (Dystrophic Epidermolysis Bullosa Research Association), Madrid, Spain

    N. Romero & C. Santos

Authors
  1. B. Castelo
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  2. D. Viñal
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  3. R. Maseda
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  4. L. Ostios
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  5. D. Sánchez
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  6. B. García-Salvatierra
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  7. M. J. Escámez
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  8. L. Martínez-Santamaría
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  9. M. Del Río
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  10. M. Mora-Rillo
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  11. Y. Vilches
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  12. M. J. Beato
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  13. J. C. López Gutiérrez
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  14. N. Romero
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  15. C. Santos
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  16. J. Miranda
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  17. R. de Lucas
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Contributions

All the authors have contributed equally to this work. All the authors read and approved the final manuscript.

Corresponding author

Correspondence to D. Viñal.

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The authors declare that they have no conflict of interest.

Research involving human participants and/or animals

This article does not contain any studies with human participants or animals performed by any of the authors.

Informed consent

Local ethical committee approved the use of anonymized historic samples and data for the study and waived informed consent from patients.

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Castelo, B., Viñal, D., Maseda, R. et al. Epidemiology and natural history of cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients: 20 years’ experience of a reference centre in Spain. Clin Transl Oncol 21, 1573–1577 (2019). https://doi.org/10.1007/s12094-019-02073-3

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  • DOI: https://doi.org/10.1007/s12094-019-02073-3

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