A Case of Rectal Cancer with Dihydropyrimidine Dehydrogenase Deficiency

We conducted laparoscopic low anterior resection on a 72-year-old man with rectal cancer in October 2007, diagnosed postoperatively as tub2, pSE, pN2 (6/12), cH0, cP0, cM0, fStage IIIb. We administered UFT of 300 mg/day and uzel75 of mg/day in adjuvant chemotherapy on postoperative day 24, but discontinued chemotherapy six days later due to grade 3 nausea. He then suffered grade 4 leukocytopenia, grade 3 thrombocytopenia and grade 3 mucositis dying of multiple organ failure 28 days after chemotherapy administration. Urine uracil was 593.0μmol/g·cre, urine dihydrouracil was 2.1μmol/g·cre, and the dihydrouracil/uracil ratio was 0.004 compared to the standard 0.23-0.67. We could not measure dihydropyrimidine dehydrogenase (DPD) activity in peripheral mononuclear blood cells. The definitive diagnosis was DPD deficiency, only six cases of which, to our knowledge, have been reported in Japan. When chemotherapy side effect are chemotherapy is very severe, it must be stopped immediately and replaced by other treatment.