Chromosomal breakage tests in the differential diagnosis of Fanconi anemia and aplastic anemia

• Published in: European journal of haematology 2023-08, Vol.111 (2), p.254-262
• Main Authors: Farkas, Gyöngyi, Székely, Gábor, Goda, Veronika, Kállay, Krisztián M., Kocsis, Zsuzsa S., Szakszon, Katalin, Benyó, Gábor, Erdélyi, Dániel, Liptai, Zoltán, Csordás, Katalin, Kertész, Gabriella, Szegedi, István, Kriván, Gergely, Takácsi‐Nagy, Zoltán, Polgár, Csaba, Jurányi, Zsolt
• Format: Article
• Language: English
• Subjects: Anemia; Aplastic anemia; Ataxia telangiectasia; Bleomycin; bleomycin test; Bone marrow transplantation; chromosomal breakage test; Chromosome aberrations; Differential diagnosis; Fanconi anemia; Fanconi syndrome; Hematological diseases; in vitro irradiation; Mitomycin C; mitomycin test; Radiation; Radiosensitivity
• ISSN: 0902-4441; 1600-0609
• DOI: 10.1111/ejh.13990

Background FA patients are hypersensitive to preconditioning of bone marrow transplantation. Objective Assessment of the power of mitomycin C (MMC) test to assign FA patients. Methods We analysed 195 patients with hematological disorders using spontaneous and two types of chromosomal breakage tests (MMC and bleomycin). In case of presumed Ataxia telangiectasia (AT), patients' blood was irradiated in vitro to determine the radiosensitivity of the patients. Results Seven patients were diagnosed as having FA. The number of spontaneous chromosomal aberrations was significantly higher in FA patients than in aplastic anemia (AA) patients including chromatid breaks, exchanges, total aberrations, aberrant cells. MMC‐induced ≥10 break/cell was 83.9 ± 11.4% in FA patients and 1.94 ± 0.41% in AA patients (p