Journal of Gastrointestinal Surgery

, Volume 16, Issue 10, pp 1963–1966

Management of Squamous Cell Cancer of the Oesophagus in a Patient with a Polyglandular Endocrinopathy (APECED) and Achalasia

  • Orla Mc Cormack
  • Marie Timlin
  • Anne Mc Gowan
  • Marie-Louise Healy
  • Narayanasamy Ravi
  • John V. Reynolds
Case Report

DOI: 10.1007/s11605-012-1879-5

Cite this article as:
Mc Cormack, O., Timlin, M., Mc Gowan, A. et al. J Gastrointest Surg (2012) 16: 1963. doi:10.1007/s11605-012-1879-5

Abstract

Introduction

We report a case of a 37-year-old man, with a background of a rare polyglandular autoimmune syndrome and achalasia, who developed an oesophageal tumour. Both autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) or type I polyglandular syndrome and achalasia confer increased risk of development of oesophageal squamous cell carcinoma.

Methods

Despite having had multiple endoscopic examinations and dilatations in the recent past, this patient presented with dysphagia, and on endoscopy, he was found to have a mid-oesophageal tumour. A multidisciplinary team approach was vital in his management as careful monitoring of underlying disorders including Addison's disease and hypoparathyroidism were challenging during neoadjuvant chemoradiotherapy and in the perioperative period.

Results

He made an uneventful recovery after a three-stage oesophagectomy, and histologically, he had a complete pathological response.

Conclusion

To our knowledge, this is the first successful outcome of a patient with APECED and oesophageal carcinoma in the literature.

Abbreviations

SCC

Squamous cell carcinoma

APECED

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy

Copyright information

© The Society for Surgery of the Alimentary Tract 2012

Authors and Affiliations

  • Orla Mc Cormack
    • 1
  • Marie Timlin
    • 1
  • Anne Mc Gowan
    • 2
  • Marie-Louise Healy
    • 2
  • Narayanasamy Ravi
    • 1
  • John V. Reynolds
    • 1
    • 3
  1. 1.Department of SurgerySt. James’s Hospital, Dublin, and Trinity College DublinDublinIreland
  2. 2.Department of EndocrinologySt. James’s Hospital, DublinDublinIreland
  3. 3.Trinity CentreSt. James’s HospitalDublin 8Ireland