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Shi-Jie Yan,1,2,* Yan Li,3,* Ze-Lian Li,1,2 Ying Chen,1,2 Xiao-Hui Zhang,1,2 Lan Xiao1,21Department of Obstetrics and Gynecology, The First Affiliated Hospital, Anhui Medical University, Hefei 230020, Anhui, P.R. China; 2Anhui Province Key Laboratory of Reproductive Health and Genetics, Hefei 230020, Anhui, P.R. China; 3Department of Pathology and Pathophysiology, School of Medicine, Jianghan University, Wuhan 430056, Hubei, P.R. China*These authors contributed equally to this workAbstract:Gestational trophoblastic neoplasms (GTN) are highly curable tumors, withan overall patient survival of 90%, due to the individualized chemotherapy. However,chemotherapy regimens vary between different treatment centers and the comparablebenefits and risks of these different regimens are unclear. Here, we reported a case ofGTN with oculocutaneous albinism (OCA) is resistant to fluorouracil (5-FU), extremelysensitive to actinomycin D (Act-D) with severe hand–foot skin reaction (HFSR).We hypothesized that the known, or unknown, gene mutations might be correlated with drugresistance, supersensitivity and severe drug side effects in OCA patients. Thus, we consideredthat OCA related genes influence some drug sensitivity and that the absence of melanin likelycontributes to some drug resistance. It is important to assess the OCA related gene mutationsocus of drug sensitivity, and resistance in OCA patients in future research.Keywords: oculocutaneous albinism, gestational trophoblastic neoplasms, actinomycin D, chemotherapy, hand-foot skin reaction |
