Breast cancer, DPYD mutations and capecitabine-related ileitis: description of two cases and a review of the literature

• Published in: BMJ case reports Vol. 2014; p. bcr2014203647
• Main Authors: Mokrim, Maha, Aftimos, Philippe G, Errihani, Hassan, Piccart-Gebhart, Martine
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group LTD 19.04.2014; BMJ Publishing Group
• Series: Case Report
• Subjects: Abdomen; Aged; Antimetabolites, Antineoplastic - adverse effects; Antineoplastic Combined Chemotherapy Protocols; Breast cancer; Breast Neoplasms - drug therapy; Breast Neoplasms - genetics; Breast Neoplasms - pathology; Capecitabine; Carcinoma, Ductal - drug therapy; Carcinoma, Ductal - genetics; Carcinoma, Ductal - pathology; Colitis - diagnosis; Contraindications; Deoxycytidine - adverse effects; Deoxycytidine - analogs & derivatives; Diagnosis, Differential; Diarrhea - chemically induced; Diarrhea - diagnosis; Dihydropyrimidine Dehydrogenase Deficiency - complications; Dihydrouracil Dehydrogenase (NADP) - genetics; Europe (West); Female; Fluorouracil - adverse effects; Fluorouracil - analogs & derivatives; Genes; Humans; Ileitis - chemically induced; Literature reviews; Mutation; Neoplasm Metastasis; Triple Negative Breast Neoplasms - drug therapy; Triple Negative Breast Neoplasms - genetics; Triple Negative Breast Neoplasms - pathology; Unexpected Outcome (Positive or Negative) Including Adverse Drug Reactions; White
• ISSN: 1757-790X; 1757-790X
• DOI: 10.1136/bcr-2014-203647

Despite many treatment advances, metastatic breast cancer remains an incurable disease and is the third leading cause of cancer-related deaths in Europe. Capecitabine has become a standard treatment option for metastatic breast cancer, as a single agent or in combination. Hand–foot syndrome and diarrhoea are the most frequently reported side effects, while capecitabine-related ileitis is very rare. Deficiency of dihydropyrimidine dehydrogenase activity leads to severe toxicities after administration of 5-fluorouracil or its prodrugs. We report two cases of patients with metastatic breast cancer who developed ileitis after treatment with capecitabine. One patient had a DPYD gene abnormality.