Unusual response to bifunctional alkylating agents in a case of Fanconi anaemia.
Chromosomal breakage frequencies were determined in Fanconi anaemia (FA) blood cultures treated with various concentrations of the polyfunctional alkylating agents mitomycin C, diepoxybutane, and cis-platinum(II)-diammine-dichloride, for which FA cells have a characteristic hypersensitivity. At concentrations that hardly affected control cultures, three out of four patients tested exhibited a concentration-dependent increase of cells with aberrant chromosomes, with a concomitant increase in the number of chromosomal aberrations per aberrant cell. The fourth patient, a 22-year-old male, was exceptional because with all three clastogens only 40% of his cultured cells exhibited a typical concentration-dependent response, while 60% of his cells responded like those from normal healthy controls. The possible nature and significance of this unusual response is discussed.
D000293:Adolescent; D000477:Alkylating Agents / Q000494:pharmacology*; D000741:Anemia, Aplastic / Q000097:blood*; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D002877:Chromosomes, Human / Q000187:drug effects*; D002945:Cisplatin / Q000494:pharmacology; D004852:Epoxy Compounds / Q000494:pharmacology; D005199:Fanconi Anemia / Q000097:blood* / Q000235:genetics; D005260:Female; D006801:Humans; D066298:In Vitro Techniques; D008214:Lymphocytes / Q000187:drug effects*; D008297:Male; D016685:Mitomycin; D008937:Mitomycins / Q000494:pharmacology; D010375:Pedigree
D000477:Alkylating Agents; D004852:Epoxy Compounds; D008937:Mitomycins; D016685:Mitomycin; C007366:diepoxybutane; D002945:Cisplatin