Differentiation of Fanconi anemia and aplastic anemia using mitomycin C test in Tunisia.

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Talmoudi, Faten | Kilani, Olfa | Ayed, Wiem | Ben Halim, Nizar | Mellouli, Fethi | Torjmane, Lamia | Aissaoui, Lamia | Ben Youssef, Yosra | Kammoun, Lobna | Ben Othmane, Tarek | Bejaoui, Mohamed | Ben Romdhane, Neila | Elloumi, Moez | Hadiji, Sondes | Hentati, Sofiene | Chemkhi, Imene | Abidli, Nabila | Guermani, Helmi | Abdelhak, Sonia | Amouri, Ahlem

Edité par CCSD ; Académie des sciences (Paris) -

International audience. Fanconi anemia (FA) is a recessive chromosomal instability syndrome that is clinically characterized by multiple symptoms. Chromosome breakage hypersensitivity to alkylating agents is the gold standard test for FA diagnosis. In this study, we provide a detailed laboratory protocol for accurate assessment of FA diagnosis based on mitomycin C (MMC) test. Induced chromosomal breakage study was successful in 171 out of 205 aplastic anemia (AA) patients. According to the sensitivity of MMC at 50 ng/ml, 38 patients (22.22%) were diagnosed as affected and 132 patients (77.17%) as unaffected. Somatic mosaicism was suspected in an 11-year-old patient with a FA phenotype. Twenty-six siblings of FA patients were also evaluated and five of them (19.23%) were diagnosed as FA. From this study, a standard protocol for diagnosis of FA was developed. It is routinely used as a diagnostic test of FA in Tunisia.

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