Article Text

Download PDFPDF
CASE REPORT
Patient with Lynch syndrome with subsequent development of small bowel adenocarcinoma
  1. Abdul Hussain Azizi1,
  2. Zaina S Inam1,
  3. Timothy J Farrell2
  1. 1 Geisinger Commonwealth School of Medicine, Scranton, Pennsylvania, USA
  2. 2 Surgery, Geisinger Community Medical Center, Scranton, Pennsylvania, USA
  1. Correspondence to Abdul Hussain Azizi, hussain.azizi12{at}gmail.com

Summary

Small bowel adenocarcinoma (SBA) is a rare cancer in the general population, but the incidence increases in patients with Lynch syndrome. The present case describes a 57-year-old white woman with a history of colon cancer status posthemicolectomy and diagnosis of Lynch syndrome. Twenty years after her operation, the patient presented with vague abdominal discomfort and constipation, and underwent an exploratory laparotomy which revealed a stage 3A SBA. Genetic testing of the specimen provided evidence of microsatellite instability and faulty DNA repair supporting aetiology of Lynch syndrome. This case is unique in that SBA, if present in patients with Lynch syndrome, is usually a presenting symptom and has not been widely described in literature as an occurrence so many years after. As a result, this case highlights the importance of a low threshold for a thorough evaluation in patients with Lynch syndrome who present with signs of small bowel obstruction.

  • colon cancer
  • small intestine cancer
  • pathology
  • genetic screening / counselling

Statistics from Altmetric.com

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Footnotes

  • Contributors AHA: acquisition, analysis and interpretation of data; drafting and revising the manuscript critically for important intellectual content. ZSI: analysis and interpretation of data; drafting and revising the manuscript critically for important intellectual content. TJF: acquisition of data; revising the manuscript critically for important intellectual content. All authors approved the final version of the manuscript to be published and agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.