Endocrine Abstracts

Background: Lynch Syndrome (LS) is a genetic syndrome that increases the risk of various forms of cancers, including ovarian, pancreatic and bowel cancers. A rare but oft-forgotten association is with adrenocortical carcinoma (ACC). A previous study revealed that LS has a prevalence of 3.2% in patients presenting with ACC. Failure to consider this association and arrange the appropriate genetic testing may result in disastrous consequences for patients diagnosed with ACC. Our case demonstrates the positive patient outcomes that can be achieved when this association is kept in mind.

Case Presentation: A 31-year-old male patient presented to the emergency department at Frimley Park Hospital with a multiple week history of vague right-sided abdominal pain associated with weight loss. Abdominal imaging revealed a 14 cm right-sided adrenal tumour which appeared to be causing a mass effect in the region. Subsequent biochemical testing revealed that this tumour was consistent with ACC, with failure to suppress on overnight dexamethasone testing and the presence of androgens detected in a 24-hour urinary collection. This patient was referred for urgent adrenalectomy and was started on mitotane in the post-operative phase, along with appropriate hormone replacement therapy. Genetic testing was positive for Lynch Syndrome, thus appropriate post-operative monitoring was arranged. Post-operative imaging has thus far revealed no evidence of metastatic spread. Furthermore, both post-operative upper GI endoscopy and colonoscopy have excluded the presence of any gastrointestinal carcinomas, and the patient has been placed in the appropriate screening programme.

Conclusion: This case reinforces the importance of screening for Lynch Syndrome in those with confirmed adrenocortical carcinoma to facilitate early identification and treatment of any associated malignancies. Referral to the NHS Bowel Cancer Screening Programme, with bowel surveillance every two years, is especially essential.