Management of squamous cell cancer of the oesophagus in a patient with a polyglandular endocrinopathy (APECED) and achalasia

J Gastrointest Surg. 2012 Oct;16(10):1963-6. doi: 10.1007/s11605-012-1879-5. Epub 2012 Apr 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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Carcinoma, Squamous Cell / diagnosis
  • Carcinoma, Squamous Cell / etiology
  • Carcinoma, Squamous Cell / therapy*
  • Chemoradiotherapy, Adjuvant*
  • Esophageal Achalasia / complications*
  • Esophageal Neoplasms / diagnosis
  • Esophageal Neoplasms / etiology
  • Esophageal Neoplasms / therapy*
  • Esophagectomy*
  • Humans
  • Male
  • Neoadjuvant Therapy*
  • Polyendocrinopathies, Autoimmune / complications*