title: Hepatopathy-Thrombocytopenia Syndrome During Actinomycin D Treatment May Be Related to MDR1 (ABCB1) Gene Polymorphisms.
abstract: The antitumor agent actinomycin D has been used in the treatment of Wilms tumor for the past 40 years. Actinomycin D-induced hepatopathy-thrombocytopenia syndrome (HTS) is characterized as a rare syndrome. The mechanism underlying HTS may differ with individual multidrug resistance protein-1 (MDR1) genotype. The relationship between actinomycin D-related HTS and MDR1 gene mutations is presented in this case study of a pediatric patient with Wilms tumor. Our findings revealed that the girl had (-)1G>A, 1236C>T, 2677G>T, 3435C>T, and 61A>G MDR1 gene mutations. Understanding the function of genetic variants of MDR1 is an important aim for personalized cancer management.
authors.affiliation: 1Department of Basic Oncology, Institute of Oncology, Dokuz Eylul University, Izmir, Turkey; and 2Department of Pediatric Oncology, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Baskin
authors.forename: Arsalan
authors.initials: A
authors.lastname: Amirfallah
authors.forename: Gizem
authors.initials: G
authors.lastname: Calibasi
authors.forename: Nur
authors.initials: N
authors.lastname: Olgun
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B / Q000235:genetics; D000903:Antibiotics, Antineoplastic / Q000009:adverse effects*; D056486:Chemical and Drug Induced Liver Injury / Q000209:etiology*; D002675:Child, Preschool; D003609:Dactinomycin / Q000009:adverse effects*; D005260:Female; D006801:Humans; D007680:Kidney Neoplasms / Q000188:drug therapy*; D011110:Polymorphism, Genetic; D013921:Thrombocytopenia / Q000139:chemically induced*; D009396:Wilms Tumor / Q000188:drug therapy*
chemical_list: C513055:ABCB1 protein, human; D018435:ATP Binding Cassette Transporter, Subfamily B; D000903:Antibiotics, Antineoplastic; D003609:Dactinomycin