title: Severe radiotoxicity in an allogeneic transplant recipient with a heterozygous ATM mutation.
abstract: Patients receiving radiotherapy often experience toxicity of the skin and mucous membranes. While radiotherapy is a mainstay of myeloablative conditioning for allogeneic hematopoietic stem cell transplantation (ASCT), no risk factors for radiotoxicity have been identified in this setting. Here, we report on a patient with excessive radiation-induced toxicity after ASCT who carried a heterozygous mutation in the Ataxia telangiectasia mutated (ATM) gene. This is the first case to suggest a genetic basis for increased radiotoxicity after myeloablative ASCT.
authors.affiliation: Department of Hematology, Oncology and Tumor Immunology, Charité University Medicine, Berlin, Germany.
authors.forename: Benjamin N
authors.initials: BN
authors.lastname: Ostendorf
authors.affiliation: Department of Hematology, Oncology and Tumor Immunology, Charité University Medicine, Berlin, Germany.
authors.forename: Theis H
authors.initials: TH
authors.lastname: Terwey
authors.affiliation: Department of Hematology, Oncology and Tumor Immunology, Charité University Medicine, Berlin, Germany.
authors.forename: Philipp G
authors.initials: PG
authors.lastname: Hemmati
authors.affiliation: Department of Radiation Oncology and Radiotherapy, Charité University Medicine, Berlin, Germany.
authors.forename: Dirk
authors.initials: D
authors.lastname: Böhmer
authors.affiliation: Department of Ophthalmology, Charité University Medicine, Berlin, Germany.
authors.forename: Uwe
authors.initials: U
authors.lastname: Pleyer
authors.affiliation: Department of Hematology, Oncology and Tumor Immunology, Charité University Medicine, Berlin, Germany.
authors.forename: Renate
authors.initials: R
authors.lastname: Arnold
mesh_terms: D000328:Adult; D064007:Ataxia Telangiectasia Mutated Proteins / Q000235:genetics*; D001402:B-Lymphocytes / Q000378:metabolism / Q000473:pathology; D004893:Erythema Nodosum / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D012074:Remission Induction; D019172:Transplantation Conditioning / Q000009:adverse effects; D014184:Transplantation, Homologous; D014916:Whole-Body Irradiation / Q000009:adverse effects*
chemical_list: C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins
keywords: ataxia telangiectasia mutated; hematopoietic stem cell transplantation; radiosensitivity; radiotoxicity; risk factor