Abstract
Aim. Cancer patients with reduced dihydropyrimidine dehydrogenase (DPD)
activity are at increased risk of severe fluoropyrimidine (FP)-related
adverse events (AE). Guidelines recommend FP dosing adjusted to
genotype-predicted DPD activity based on four DPYD variants
(rs3918290, rs55886062, rs67376798, rs56038477). We evaluated
relationship between three further DPYD polymorphisms
[c.496A>G (rs2297595), *6
c.2194G>A (rs1801160) and *9A c.85T>C
(rs1801265)] and the risk of severe AEs. Methods. Consecutive
FP-treated adult patients were genotyped for “standard” and tested
DPYD variants, and for UGT1A1*28 if irinotecan was
included, and were monitored for the occurrence of grade ≥3 (National
Cancer Institute Common Terminology Criteria) vs. grade 0-2 AEs. For
each of the tested polymorphisms, variant allele carriers were matched
to respective wild type controls (optimal full matching combined with
exact matching, in respect to: age, sex, type of cancer, type of FP,
DPYD activity score, use of irinotecan/UGT1A1, adjuvant
therapy, radiotherapy, biological therapy and genotype on the remaining
three tested polymorphisms). Results. Of the 503 included patients
(82.3% colorectal cancer), 283 (56.3%) developed grade ≥3 AEs, mostly
diarrhea and neutropenia. Odds of grade ≥3 AEs were higher in
c.496A>G variant carriers (n=127) than in controls
(n=376) [OR=5.20 (95%CI 1.88-14.3), Bayesian OR=5.24 (95% CrI
3.06-9.12)]. Odds tended to be higher in *6
c.2194G>A variant carries (n=58) than in controls (n=432)
[OR=1.88 (0.95-3.73), Bayesian OR=1.90 (1.03-3.56)]. *9A
c.85T>G did not appear associated with grade ≥3 AEs (206
variant carriers vs. 284 controls). Conclusion. DPYD
c.496A>G variant might need to be considered for inclusion
in the DPYD genotyping panel.