Cytogenetic findings in Polish patients with suspected Fanconi anemia.
Fanconi anemia
chromosome breakage test
mitomycin C
Journal
Advances in clinical and experimental medicine : official organ Wroclaw Medical University
ISSN: 1899-5276
Titre abrégé: Adv Clin Exp Med
Pays: Poland
ID NLM: 101138582
Informations de publication
Date de publication:
04 Aug 2023
04 Aug 2023
Historique:
received:
12
02
2023
revised:
06
04
2023
accepted:
26
06
2023
medline:
4
8
2023
pubmed:
4
8
2023
entrez:
4
8
2023
Statut:
aheadofprint
Résumé
The high sensitivity of cells of Fanconi anemia (FA) patients to DNA cross-linking agents (clastogens), such as mitomycin C (MMC), was used as a screening tool in Polish children with clinical suspicion of FA. The aim of the study was to compare chromosome fragility between 3 groups, namely non-FA, possible mosaic FA and FA patients. The study included 100 children with hematological manifestations and/or congenital defects characteristic of FA, and 100 healthy controls. Blood samples obtained from participants were analyzed using an MMC-induced chromosomal breakage test. Patients with clinical suspicion of FA were divided into 3 subgroups based on the MMC test results, namely FA, possible mosaic FA and non-FA. Thirteen out of 100 patients had a true FA cellular phenotype. The mean value of MMC-induced chromosome breaks/cell for FA patients was higher than for non-FA patients (6.67 ±3.92 compared to 0.23 ±0.18). In addition, the percentage of cells with spontaneous aberrations was more than 9 times higher in FA patients than in non-FA patients. Our results confirmed that the MMC sensitivity test distinguishes between individuals affected by FA, those with possible somatic mosaicism, and patients with bone marrow failure for other reasons, who were classified as non-FA in the first diagnostic step. However, a definitive differential diagnosis requires follow-up mutation testing and chromosome breakage analysis of skin fibroblasts.
Sections du résumé
BACKGROUND
BACKGROUND
The high sensitivity of cells of Fanconi anemia (FA) patients to DNA cross-linking agents (clastogens), such as mitomycin C (MMC), was used as a screening tool in Polish children with clinical suspicion of FA.
OBJECTIVES
OBJECTIVE
The aim of the study was to compare chromosome fragility between 3 groups, namely non-FA, possible mosaic FA and FA patients.
MATERIAL AND METHODS
METHODS
The study included 100 children with hematological manifestations and/or congenital defects characteristic of FA, and 100 healthy controls. Blood samples obtained from participants were analyzed using an MMC-induced chromosomal breakage test.
RESULTS
RESULTS
Patients with clinical suspicion of FA were divided into 3 subgroups based on the MMC test results, namely FA, possible mosaic FA and non-FA. Thirteen out of 100 patients had a true FA cellular phenotype. The mean value of MMC-induced chromosome breaks/cell for FA patients was higher than for non-FA patients (6.67 ±3.92 compared to 0.23 ±0.18). In addition, the percentage of cells with spontaneous aberrations was more than 9 times higher in FA patients than in non-FA patients.
CONCLUSIONS
CONCLUSIONS
Our results confirmed that the MMC sensitivity test distinguishes between individuals affected by FA, those with possible somatic mosaicism, and patients with bone marrow failure for other reasons, who were classified as non-FA in the first diagnostic step. However, a definitive differential diagnosis requires follow-up mutation testing and chromosome breakage analysis of skin fibroblasts.
Identifiants
pubmed: 37540155
doi: 10.17219/acem/168825
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM