A case report for severe hand–foot skin reaction caused by chemotherapy with actinomycin D in a patient with oculocutaneous albinism

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, with an overall patient survival of 90%, due to the individualized chemotherapy. However, chemotherapy regimens vary between different treatment centers and the comparable benefits and risks of these different regimens are unclear. Here, we reported a case of GTN with oculocutaneous albinism (OCA) is resistant to fluorouracil (5-FU), extremely sensitive 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 drug resistance, supersensitivity and severe drug side effects in OCA patients. Thus, we considered that OCA related genes influence some drug sensitivity and that the absence of melanin likely contributes to some drug resistance. It is important to assess the OCA related gene mutations ocus of drug sensitivity, and resistance in OCA patients in future research.Keywords: oculocutaneous albinism, gestational trophoblastic neoplasms, actinomycin D, chemotherapy, hand-foot skin reactio