title: Successful chemotherapy in a male patient with malignant lymphoma and Leber's hereditary optic neuropathy (LHON).
abstract: Leber's hereditary optic neuropathy (LHON) is a bilateral subacute optic neuropathy caused by hereditary missense mutations of the mitochondrial genome. Primary mutations are located at nucleotide positions 11778, 3460, and 14484 in genes encoding subunits of complex I of the respiratory chain. It has been suggested that degenerative changes in the optic nerve might be mediated by apoptosis. Therefore, we hypothesized that patients affected with LHON might show altered sensitivity to cytotoxic drugs. Here we report the case of a LHON patient carrying the 11778 mutation who required chemotherapy for malignant lymphoma. Using in vitro assays, we found that the patient's peripheral blood mononuclear cells did not show altered vulnerability to cytotoxic drugs. The patient was treated with combination chemotherapy and consolidating radiotherapy, leading to complete remission without inappropriately severe acute or chronic side effects. These data indicate that the 11778 mutation does not change cellular response to cytotoxic drugs in a clinically apparent manner.
authors.affiliation: Department of Hematology and Oncology, Technical University of Aachen, Germany. sz2106@columbia.edu
authors.forename: Stefanie
authors.initials: S
authors.lastname: Zanssen
authors.forename: Gerhard
authors.initials: G
authors.lastname: Buse
mesh_terms: D000328:Adult; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use*; D002478:Cells, Cultured / Q000187:drug effects; D003131:Combined Modality Therapy; D003520:Cyclophosphamide / Q000008:administration & dosage / Q000031:analogs & derivatives* / Q000494:pharmacology; D004272:DNA, Mitochondrial / Q000235:genetics; D019008:Drug Resistance, Neoplasm / Q000235:genetics; D015251:Epirubicin / Q000008:administration & dosage; D005260:Female; D006801:Humans; D007963:Leukocytes, Mononuclear / Q000187:drug effects; D008228:Lymphoma, Non-Hodgkin / Q000150:complications* / Q000188:drug therapy / Q000532:radiotherapy; D008297:Male; D029242:Optic Atrophy, Hereditary, Leber / Q000150:complications* / Q000235:genetics; D011241:Prednisone / Q000008:administration & dosage; D012074:Remission Induction; D014750:Vincristine / Q000008:administration & dosage
chemical_list: D004272:DNA, Mitochondrial; D015251:Epirubicin; C048341:mafosfamide; D014750:Vincristine; D003520:Cyclophosphamide; D011241:Prednisone