Mukherji Deborah, Massih Sarah Abdel, Tfayli Arafat, Kanso Mariam, Faraj Walid
Division of Hematology-Oncology, Department of Internal Medicine, American University of Beirut, Beirut, Lebanon.
Department of Surgery, HPB and Liver Transplant Unit, American University of Beirut, PO Box 11-0236, Riad El Solh, Beirut, 1107 2020, Lebanon.
J Med Case Rep. 2019 Mar 22;13(1):76. doi: 10.1186/s13256-019-2013-z.
Dihydropyrimidine dehydrogenase deficiency secondary to polymorphisms in the DPYD gene can lead to significant toxicity associated with the administration of fluoropyrimidine chemotherapy.
We report a case of a 59-year-old Lebanese woman with metastatic pancreatic cancer who received FOLFIRINOX therapy and developed severe 5-fluorouracil toxicity after a single cycle. The entire DPYD gene was sequenced, and the patient was found to be heterozygous for three different polymorphisms that have reportedly been associated with dihydropyrimidine dehydrogenase deficiency.
Because data regarding the prevalence and clinical significance of several heterozygous polymorphisms in a single DPYD gene are very limited, we suggest that full gene sequencing should be carried out, at least in populations in which the allele frequencies are unknown.
由于二氢嘧啶脱氢酶（DPYD）基因多态性继发的二氢嘧啶脱氢酶缺乏症，可导致与氟嘧啶化疗给药相关的显著毒性。
我们报告了一例59岁的黎巴嫩转移性胰腺癌女性患者，其接受了FOLFIRINOX治疗，在一个疗程后出现了严重的5-氟尿嘧啶毒性。对整个DPYD基因进行了测序，发现该患者存在三种不同的多态性，据报道这些多态性与二氢嘧啶脱氢酶缺乏症有关，且为杂合子。
由于关于单个DPYD基因中几种杂合多态性的患病率和临床意义的数据非常有限，我们建议至少在等位基因频率未知的人群中进行全基因测序。
