Clinical relevance of DPYD variants c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: A systematic review and meta-analysis of individual patient data

Didier Meulendijks, Linda M. Henricks, Gabe S. Sonke, Maarten J. Deenen, Tanja K. Froehlich, Ursula Amstutz, Carlo R. Largiadèr, Barbara A. Jennings, Anthony M. Marinaki, Jeremy D. Sanderson, Zdenek Kleibl, Petra Kleiblova, Matthias Schwab, Ulrich M. Zanger, Claire Palles, Ian Tomlinson, Eva Gross, André B P van Kuilenburg, Cornelis J A Punt, Miriam KoopmanJos H. Beijnen, Annemieke Cats, Jan H M Schellens*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

1 Downloads (Pure)

Abstract

Background: The best-known cause of intolerance to fluoropyrimidines is dihydropyrimidine dehydrogenase (DPD) deficiency, which can result from deleterious polymorphisms in the gene encoding DPD (DPYD), including. DPYD*2A and c.2846A>T. Three other variants- DPYD c.1679T>G, c.1236G>A/HapB3, and c.1601G>A-have been associated with DPD deficiency, but no definitive evidence for the clinical validity of these variants is available. The primary objective of this systematic review and meta-analysis was to assess the clinical validity of c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity. Methods: We did a systematic review of the literature published before Dec 17, 2014, to identify cohort studies investigating associations between. DPYD c.1679T>G, c.1236G>A/HapB3, and c.1601G>A and severe (grade ≥3) fluoropyrimidine-associated toxicity in patients treated with fluoropyrimidines (fluorouracil, capecitabine, or tegafur-uracil as single agents, in combination with other anticancer drugs, or with radiotherapy). Individual patient data were retrieved and analysed in a multivariable analysis to obtain an adjusted relative risk (RR). Effect estimates were pooled by use of a random-effects meta-analysis. The threshold for significance was set at a p value of less than 0·0167 (Bonferroni correction). Findings: 7365 patients from eight studies were included in the meta-analysis. DPYD c.1679T>G was significantly associated with fluoropyrimidine-associated toxicity (adjusted RR 4·40, 95% CI 2·08-9·30, pA/HapB3 (1·59, 1·29-1·97, pA and fluoropyrimidine-associated toxicity was not significant (adjusted RR 1·52, 95% CI 0·86-2·70, p=0·15). Analysis of individual types of toxicity showed consistent associations of c.1679T>G and c.1236G>A/HapB3 with gastrointestinal toxicity (adjusted RR 5·72, 95% CI 1·40-23·33, p=0·015; and 2·04, 1·49-2·78, pT were also significantly associated with severe fluoropyrimidine-associated toxicity (adjusted RR 2·85, 95% CI 1·75-4·62, pG and c.1236G>A/HapB3 are clinically relevant predictors of fluoropyrimidine-associated toxicity. Upfront screening for these variants, in addition to the established variants. DPYD*2A and c.2846A>T, is recommended to improve the safety of patients with cancer treated with fluoropyrimidines. Funding: None.

Original languageEnglish
Pages (from-to)1639–1650
JournalLancet Oncology
Volume16
Issue number16
DOIs
Publication statusPublished - Dec 2015

Fingerprint

Dive into the research topics of 'Clinical relevance of DPYD variants c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: A systematic review and meta-analysis of individual patient data'. Together they form a unique fingerprint.

Cite this