Case Study

Unusual case of colorectal carcinoma with sarcoid-like mediastinal adenopathy and near-fatal DPD deficiency

Shakti Pillay, Owen Terreblanche, John Devar, Ashraf Wadee
South African Journal of Oncology | Vol 5 | a160 | DOI: https://doi.org/10.4102/sajo.v5i0.160 | © 2021 Shakti Pillay, Owen Terreblanche, John Devar, Ashraf Wadee | This work is licensed under CC Attribution 4.0
Submitted: 08 November 2020 | Published: 12 March 2021

About the author(s)

Shakti Pillay, Department of Paediatrics and Child Health, University of Cape Town, Cape Town, South Africa
Owen Terreblanche, Department of Radiology, Wits Donald Gordon Medical Centre, Johannesburg, South Africa
John Devar, Department of Surgery, Wits Donald Gordon Medical Centre, Johannesburg, South Africa
Ashraf Wadee, Department of Oncology, Wits Donald Gordon Medical Centre, Johannesburg, South Africa

Abstract

The liver is the commonest site for metastases in colorectal carcinoma; other isolated sites are considered extremely rare. 5-fluorouracil (5-FU) is the backbone of treatment for metastatic colorectal carcinoma (mCRC) and without it survival may be significantly reduced. It is primarily metabolised by dihydropyrimidine dehydrogenase (DPD). Testing for DPD deficiency is not a routine practice and toxicity will only manifest following drug challenge. There are limited standardised treatment guidelines in managing patients with severe drug reactions following 5-FU exposure. We describe a delayed presentation of life-threatening DPD deficiency in a patient with colorectal carcinoma and mediastinal lymphadenopathy. We describe our experience with chemotherapy in this difficult clinical scenario and highlight the importance of histological confirmation in unusual sites of metastatic disease.

Keywords

colon cancer; FOLFOX; dihydropyrimidine dehydrogenase deficiency; chemotherapy; metastatic diseas

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