title: Differentiation of Fanconi anemia and aplastic anemia using mitomycin C test in Tunisia.
abstract: 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.
authors.affiliation: Laboratory of Histology and Cytogenetics, Institut Pasteur de Tunis, Tunis, Tunisia.
authors.forename: Faten
authors.initials: F
authors.lastname: Talmoudi
authors.forename: Olfa
authors.initials: O
authors.lastname: Kilani
authors.forename: Wiem
authors.initials: W
authors.lastname: Ayed
authors.forename: Nizar
authors.initials: N
authors.lastname: Ben Halim
authors.forename: Fethi
authors.initials: F
authors.lastname: Mellouli
authors.forename: Lamia
authors.initials: L
authors.lastname: Torjmane
authors.forename: Lamia
authors.initials: L
authors.lastname: Aissaoui
authors.forename: Yosra
authors.initials: Y
authors.lastname: Ben Youssef
authors.forename: Lobna
authors.initials: L
authors.lastname: Kammoun
authors.forename: Tarek
authors.initials: T
authors.lastname: Ben Othmane
authors.forename: Mohamed
authors.initials: M
authors.lastname: Bejaoui
authors.forename: Neila
authors.initials: N
authors.lastname: Ben Romdhane
authors.forename: Moez
authors.initials: M
authors.lastname: Elloumi
authors.forename: Sondes
authors.initials: S
authors.lastname: Hadiji
authors.forename: Sofiene
authors.initials: S
authors.lastname: Hentati
authors.forename: Imene
authors.initials: I
authors.lastname: Chemkhi
authors.forename: Nabila
authors.initials: N
authors.lastname: Abidli
authors.forename: Helmi
authors.initials: H
authors.lastname: Guermani
authors.forename: Sonia
authors.initials: S
authors.lastname: Abdelhak
authors.forename: Ahlem
authors.initials: A
authors.lastname: Amouri
mesh_terms: D000293:Adolescent; D000328:Adult; D000741:Anemia, Aplastic / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D000903:Antibiotics, Antineoplastic; D002648:Child; D002675:Child, Preschool; D019457:Chromosome Breakage / Q000187:drug effects; D002873:Chromosome Fragility / Q000187:drug effects; D003241:Consanguinity; D003937:Diagnosis, Differential; D005199:Fanconi Anemia / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D016685:Mitomycin; D009030:Mosaicism; D014416:Tunisia / Q000453:epidemiology; D055815:Young Adult
chemical_list: D000903:Antibiotics, Antineoplastic; D016685:Mitomycin