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Artificial increase of uracilemia during fluoropyrimidine treatment can lead to DPD deficiency misinterpretation.

作者信息

Thomas F, Maillard M, Launay M, Tron C, Etienne-Grimaldi M-C, Gautier-Veyret E, Haufroid V, Pallet N, Royer B, Narjoz C, Schmitt A

机构信息

Laboratory of Pharmacology, Claudius Regaud Institute, IUCT-O, Toulouse Cedex 09, France; Cancer Research Center of Toulouse, INSERM U1037/ERL5294 CNRS, Toulouse Cedex 01, France.

Laboratory of Pharmacology, Claudius Regaud Institute, IUCT-O, Toulouse Cedex 09, France; Cancer Research Center of Toulouse, INSERM U1037/ERL5294 CNRS, Toulouse Cedex 01, France.

出版信息

Ann Oncol. 2021 Jun;32(6):810-811. doi: 10.1016/j.annonc.2021.02.020. Epub 2021 Mar 1.

DOI:10.1016/j.annonc.2021.02.020
PMID:33662499
Abstract
摘要

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Artificial increase of uracilemia during fluoropyrimidine treatment can lead to DPD deficiency misinterpretation.氟嘧啶治疗期间人为增加尿嘧啶血症可导致对二氢嘧啶脱氢酶缺乏症的误诊。
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Patients homozygous for DPYD c.1129-5923C>G/haplotype B3 have partial DPD deficiency and require a dose reduction when treated with fluoropyrimidines.双氢嘧啶脱氢酶（DPYD）基因c.1129-5923C>G纯合子/单倍型B3的患者存在部分双氢嘧啶脱氢酶缺乏，在接受氟嘧啶治疗时需要减少剂量。
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Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.由于影响 DPD 活性和 mRNA 剪接的新型和罕见 DPYD 错义突变、缺失和基因组扩增导致严重的氟尿嘧啶毒性。
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Lethal toxicities after capecitabine intake in a previously 5-FU-treated patient: why dose matters with dihydropryimidine dehydrogenase deficiency.卡培他滨治疗后，1 例既往接受过氟尿嘧啶治疗的患者出现致命性毒性：二氢嘧啶脱氢酶缺陷与剂量相关。
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Case report: A case of severe capecitabine toxicity due to confirmed in trans compound heterozygosity of a common and rare DPYD variant.
病例报告：一例因常见和罕见的二氢嘧啶脱氢酶（DPYD）变异体的反式复合杂合性确诊导致的严重卡培他滨毒性反应。
Front Pharmacol. 2024 Sep 23;15:1459565. doi: 10.3389/fphar.2024.1459565. eCollection 2024.
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Case report: 5-Fluorouracil treatment in patient with an important partial DPD deficiency.病例报告：对一名严重部分二氢嘧啶脱氢酶（DPD）缺乏患者的5-氟尿嘧啶治疗
Front Oncol. 2023 Jun 20;13:1187052. doi: 10.3389/fonc.2023.1187052. eCollection 2023.
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Cancer Chemother Pharmacol. 2023 Mar;91(3):257-266. doi: 10.1007/s00280-023-04518-7. Epub 2023 Mar 11.
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