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

Autor: Farkas G; National Institute of Oncology, Centre of Radiotherapy, Department of Radiobiology and Diagnostic Onco-Cytogenetics, Budapest, Hungary., Székely G; National Institute of Oncology, Centre of Radiotherapy, Department of Radiobiology and Diagnostic Onco-Cytogenetics, Budapest, Hungary., Goda V; Pediatric Hematology and Stem Cell Transplantation Unit, Central Hospital of Southern Pest, National Institute of Hematology and Infectious Diseases, Budapest, Hungary., Kállay KM; Pediatric Hematology and Stem Cell Transplantation Unit, Central Hospital of Southern Pest, National Institute of Hematology and Infectious Diseases, Budapest, Hungary., Kocsis ZS; Department of Radiobiology and Diagnostic Onco-Cytogenetics, and the National Tumorbiology Laboratory, National Institute of Oncology, Centre of Radiotherapy, Budapest, Hungary., Szakszon K; Institute of Paediatrics, Faculty of Medicine, University of Debrecen, Hajdú-Bihar, Hungary., Benyó G; Pediatric Hematology and Stem Cell Transplantation Unit, Central Hospital of Southern Pest, National Institute of Hematology and Infectious Diseases, Budapest, Hungary., Erdélyi D; Semmelweis University, 2nd Department of Paediatrics, Budapest, Hungary., Liptai Z; Semmelweis University, 2nd Department of Paediatrics, Budapest, Hungary., Csordás K; Pediatric Hematology and Stem Cell Transplantation Unit, Central Hospital of Southern Pest, National Institute of Hematology and Infectious Diseases, Budapest, Hungary., Kertész G; Pediatric Hematology and Stem Cell Transplantation Unit, Central Hospital of Southern Pest, National Institute of Hematology and Infectious Diseases, Budapest, Hungary., Szegedi I; Institute of Paediatrics, Faculty of Medicine, University of Debrecen, Hajdú-Bihar, Hungary., Kriván G; Pediatric Hematology and Stem Cell Transplantation Unit, Central Hospital of Southern Pest, National Institute of Hematology and Infectious Diseases, Budapest, Hungary., Takácsi-Nagy Z; Centre of Radiotherapy, National Institute of Oncology, Budapest, Hungary.; Semmelweis University, Department of Oncology, Budapest, Hungary., Polgár C; Centre of Radiotherapy, National Institute of Oncology, Budapest, Hungary.; Semmelweis University, Department of Oncology, Budapest, Hungary., Jurányi Z; Department of Radiobiology and Diagnostic Onco-Cytogenetics, and the National Tumorbiology Laboratory, National Institute of Oncology, Centre of Radiotherapy, Budapest, Hungary.; Semmelweis University, Department of Oncology, Budapest, Hungary.
Jazyk: angličtina
Zdroj: European journal of haematology [Eur J Haematol] 2023 Aug; Vol. 111 (2), pp. 254-262. Date of Electronic Publication: 2023 May 16.
DOI: 10.1111/ejh.13990
Abstrakt: 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 < .0001). The difference in bleomycin-induced breaks/cell was also significant: 2.01 ± 0.25 (FA) versus 1.30 ± 0.10 (AA) (p = .019). Seven patients showed increased radiation sensitivity. Both dicentric + ring, and total aberrations were significantly higher at 3 and 6 Gy compared to controls.
Conclusions: MMC and Bleomycin tests together proved to be more informative than MMC test alone for the diagnostic classification of AA patients, while in vitro irradiation tests could help detect radiosensitive-as such, individuals with AT.
(© 2023 The Authors. European Journal of Haematology published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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