72
Views
0
CrossRef citations to date
0
Altmetric
Research Article

Identification of Dpyd Variants and Estimation of Uracil and Dihydrouracil in A Healthy Indian Population

ORCID Icon, ORCID Icon, ORCID Icon, , , , , ORCID Icon & ORCID Icon show all
Pages 39-53 | Received 20 Apr 2022, Accepted 06 Oct 2022, Published online: 23 Nov 2022

References

  • van Kuilenburg ABP . Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil. Eur. J. Cancer40(7), 939–950 (2004).
  • Malet-Martino M , MartinoR. Clinical studies of three oral prodrugs of 5-fluorouracil (capecitabine, UFT, S-1): a review. Oncologist7(4), 288–323 (2002).
  • Barin-Le Guellec C , Lafay-ChebassierC , IngrandIet al. Toxicities associated with chemotherapy regimens containing a fluoropyrimidine: A real-life evaluation in France. Eur. J. Cancer124, 37–46 (2020).
  • Jacob J , MathewSK , ChackoRTet al. Systemic exposure to 5-fluorouracil and its metabolite, 5,6-dihydrofluorouracil, and development of a limited sampling strategy for therapeutic drug management of 5-fluorouracil in patients with gastrointestinal malignancy. Br. J. Clin. Pharmacol.87(3), 937–945 (2021).
  • Etienne MC , LagrangeJL , DassonvilleOet al. Population study of dihydropyrimidine dehydrogenase in cancer patients. J. Clin. Oncol.12(11), 2248–2253 (1994).
  • Mattison LK , SoongR , DiasioRB. Implications of dihydropyrimidine dehydrogenase on 5-fluorouracil pharmacogenetics and pharmacogenomics. Pharmacogenomics3(4), 485–492 (2002).
  • Harris BE , CarpenterJT , DiasioRB. Severe 5-fluorouracil toxicity secondary to dihydropyrimidine dehydrogenase deficiency. A potentially more common pharmacogenetic syndrome. Cancer68(3), 499–501 (1991).
  • Amstutz U , FroehlichTK , LargiadèrCR. Dihydropyrimidine dehydrogenase gene as a major predictor of severe 5-fluorouracil toxicity. Pharmacogenomics12(9), 1321–1336 (2011).
  • Donadio MDS , CarraroDM , TorrezanGT , de MelloCAL. Dihydropyrimidine dehydrogenase (DPD) polymorphisms knocking on the door. Ecancermedicalscience16, 1344 (2022).
  • White C , ScottRJ , PaulCet al. Ethnic diversity of DPD activity and the DPYD gene: review of the literature. Pharmacogenomics Pers. Med.14, 1603–1617 (2021).
  • Naushad SM , HussainT , AlrokayanSA , KutalaVK. Pharmacogenetic profiling of dihydropyrimidine dehydrogenase (DPYD) variants in the Indian population. J. Gene Med.23(1), e3289 (2021).
  • Hariprakash JM , VellarikkalSK , KeechilatPet al. Pharmacogenetic landscape of DPYD variants in south Asian populations by integration of genome-scale data. Pharmacogenomics19(3), 227–241 (2018).
  • Patil VM , ChouguleA , NoronhaVet al. DPYD mutation in Indian patients. Clin. Oncol. R. Coll. Radiol.31(10), 732–733 (2019).
  • Patil VM , NoronhaV , JoshiAet al. Dihydropyrimidine dehydrogenase mutation in neoadjuvant chemotherapy in head and neck cancers: myth or reality? South Asian J. Cancer 5(4), 182–185 (2016).
  • Jiang H , LuJ , JiangJ , HuP. Important role of the dihydrouracil/uracil ratio in marked interpatient variations of fluoropyrimidine pharmacokinetics and pharmacodynamics. J. Clin. Pharmacol.44(11), 1260–1272 (2004).
  • Garg MB , SevesterJC , SakoffJA , AcklandSP. Simple liquid chromatographic method for the determination of uracil and dihydrouracil plasma levels: a potential pretreatment predictor of 5-fluorouracil toxicity. J. Chromatogr. B Analyt. Technol. Biomed. Life Sci.774(2), 223–230 (2002).
  • Meulendijks D , HenricksLM , JacobsBAWet al. Pretreatment serum uracil concentration as a predictor of severe and fatal fluoropyrimidine-associated toxicity. Br. J. Cancer116(11), 1415–1424 (2017).
  • Zhou ZW , WangGQ , WanDSet al. The dihydrouracil/uracil ratios in plasma and toxicities of 5-fluorouracil-based adjuvant chemotherapy in colorectal cancer patients. Chemotherapy53(2), 127–131 (2007).
  • Gamelin E , Boisdron-CelleM , Guérin-MeyerVet al. Correlation between uracil and dihydrouracil plasma ratio, fluorouracil (5-FU) pharmacokinetic parameters, and tolerance in patients with advanced colorectal cancer: a potential interest for predicting 5-FU toxicity and determining optimal 5-FU dosage. J. Clin. Oncol.17(4), 1105 (1999).
  • Thomas F , HennebelleI , DelmasCet al. Genotyping of a family with a novel deleterious DPYD mutation supports the pretherapeutic screening of DPD deficiency with dihydrouracil/uracil ratio. Clin. Pharmacol. Ther.99(2), 235–242 (2016).
  • Etienne-Grimaldi M-C , BoyerJ-C , BeroudCet al. New advances in DPYD genotype and risk of severe toxicity under capecitabine. PLOS ONE12(5), e0175998 (2017).
  • Boisdron-Celle M , CapitainO , FarouxRet al. Prevention of 5-fluorouracil-induced early severe toxicity by pre-therapeutic dihydropyrimidine dehydrogenase deficiency screening: assessment of a multiparametric approach. Semin. Oncol.44(1), 13–23 (2017).
  • Amstutz U , HenricksLM , OfferSMet al. Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing: 2017 update. Clin. Pharmacol. Ther.103(2), 210–216 (2018).
  • van de Merbel NC . Quantitative determination of endogenous compounds in biological samples using chromatographic techniques. TrAC Trends Anal. Chem.27(10), 924–933 (2008).
  • US FDA . Bioanalytical method validation guidance for industry. 44 (2018). www.fda.gov/regulatory-information/search-fda-guidance-documents/bioanalytical-method-validation-guidance-industry
  • EMA . ICH guideline M10 on bioanalytical method validation. (2019). www.ema.europa.eu/en/ich-m10-bioanalytical-method-validation
  • Clarke W , MolinaroRJ, Clinical and Laboratory Standards Institute. Liquid chromatography-mass spectrometry methods: approved guideline.ClarkeW, MolinaroRJ, BachmannLM ( Eds). Clinical and Laboratory standard Institute, PA, USA (2014).
  • Zhou S , SongQ , TangY , NaidongW. Critical review of development, validation, and transfer for high throughput bioanalytical LC-MS/MS methods. Curr. Pharm. Anal.1(1), 3–14 (2005).
  • César IC , Cunha-JúniorGF , DuarteByrro RMet al. A rapid HPLC-ESI-MS/MS method for determination of dihydrouracil/uracil ratio in plasma: evaluation of toxicity to 5-flurouracil in patients with gastrointestinal cancer. Ther. Drug Monit.34(1), 59–66 (2012).
  • Henricks LM , JacobsBAW , MeulendijksDet al. Food-effect study on uracil and dihydrouracil plasma levels as marker for dihydropyrimidine dehydrogenase activity in human volunteers: food effect-study on U and DHU levels. Br. J. Clin. Pharmacol.84(12), 2761–2769 (2018).
  • Jacobs BAW , DeenenMJ , PluimDet al. Pronounced between-subject and circadian variability in thymidylate synthase and dihydropyrimidine dehydrogenase enzyme activity in human volunteers. Br. J. Clin. Pharmacol.82(3), 706–716 (2016).
  • Sistonen J , BüchelB , FroehlichTKet al. Predicting 5-fluorouracil toxicity: DPD genotype and 5,6-dihydrouracil:uracil ratio. Pharmacogenomics15(13), 1653–1666 (2014).
  • Coudoré F , RocheD , LefeuvreSet al. Validation of an ultra-high performance liquid chromatography tandem mass spectrometric method for quantifying uracil and 5,6-dihydrouracil in human plasma. J. Chromatogr. Sci.50(10), 877–884 (2012).
  • Jiang H , JiangJ , HuP , HuY. Measurement of endogenous uracil and dihydrouracil in plasma and urine of normal subjects by liquid chromatography-tandem mass spectrometry. J. Chromatogr. B769(1), 169–176 (2002).
  • Remaud G , Boisdron-CelleM , HamelineCet al. An accurate dihydrouracil/uracil determination using improved high performance liquid chromatography method for preventing fluoropyrimidines-related toxicity in clinical practice. J. Chromatogr. B823(2), 98–107 (2005).
  • Pallet N , HamdaneS , GarinetSet al. A comprehensive population-based study comparing the phenotype and genotype in a pretherapeutic screen of dihydropyrimidine dehydrogenase deficiency. Br. J. Cancer123(5), 811–818 (2020).
  • Ito S , KawamuraT , InadaMet al. Physiologically based pharmacokinetic modelling of the three-step metabolism of pyrimidine using C-uracil as an in vivo probe. Br. J. Clin. Pharmacol.60(6), 584–593 (2005).
  • Khushman M , PatelGK , HoseinPJet al. Germline pharmacogenomics of DPYD*9A (c.85T>C) variant in patients with gastrointestinal malignancies treated with fluoropyrimidines. J. Gastrointest. Oncol.9(3), 416–424 (2018).
  • Rosmarin D , PallesC , PagnamentaAet al. A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS. Gut64(1), 111–120 (2015).
  • Palles C , FotheringhamS , ChegwiddenLet al. An evaluation of the diagnostic accuracy of a panel of variants in DPYD and a single variant in ENOSF1 for predicting common capecitabine related toxicities. Cancers13(7), 1497 (2021).
  • Gross E , UllrichT , SeckKet al. Detailed analysis of five mutations in dihydropyrimidine dehydrogenase detected in cancer patients with 5-fluorouracil-related side effects. Hum. Mutat.22(6), 498 (2003).
  • Meulendijks D , HenricksLM , SonkeGSet al. 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. Lancet Oncol.16(16), 1639–1650 (2015).

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.