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Clinical and Translational Oncology

, Volume 21, Issue 11, pp 1573–1577 | Cite as

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

  • B. Castelo
  • D. ViñalEmail author
  • R. Maseda
  • L. Ostios
  • D. Sánchez
  • B. García-Salvatierra
  • M. J. Escámez
  • L. Martínez-Santamaría
  • M. Del Río
  • M. Mora-Rillo
  • Y. Vilches
  • M. J. Beato
  • J. C. López Gutiérrez
  • N. Romero
  • C. Santos
  • J. Miranda
  • R. de Lucas
Brief Research Article

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.

Keywords

Cutaneous squamous cell carcinoma Recessive dysthropic epydermolisis bullosa Prognosis Treatment 

Notes

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.

Author contributions

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

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.

Compliance with ethical standards

Conflict of interest

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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Copyright information

© Federación de Sociedades Españolas de Oncología (FESEO) 2019

Authors and Affiliations

  • B. Castelo
    • 1
  • D. Viñal
    • 1
    Email author
  • R. Maseda
    • 2
  • L. Ostios
    • 1
  • D. Sánchez
    • 1
  • B. García-Salvatierra
    • 3
  • M. J. Escámez
    • 4
  • L. Martínez-Santamaría
    • 4
  • M. Del Río
    • 4
  • M. Mora-Rillo
    • 5
  • Y. Vilches
    • 6
  • M. J. Beato
    • 7
  • J. C. López Gutiérrez
    • 3
  • N. Romero
    • 8
  • C. Santos
    • 8
  • J. Miranda
    • 1
  • R. de Lucas
    • 2
  1. 1.Department of Medical OncologyLa Paz University HospitalMadridSpain
  2. 2.Department of DermatologyLa Paz University HospitalMadridSpain
  3. 3.Department of Plastic SurgeryLa Paz University HospitalMadridSpain
  4. 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)MadridSpain
  5. 5.Infectious Diseases Unit, Internal Medicine DepartmentLa Paz University Hospital IdiPAZMadridSpain
  6. 6.Department of Palliative CareLa Paz University HospitalMadridSpain
  7. 7.Department of PathologyLa Paz University HospitalMadridSpain
  8. 8.DEBRA (Dystrophic Epidermolysis Bullosa Research Association)MadridSpain

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