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• W2036706172 abstract "<h3>Background</h3> Fanconi anaemia (FA) is a rare syndrome characterized by bone marrow failure, malformations and cancer predisposition. Chromosome fragility induced by DNA interstrand crosslink (ICL)-inducing agents such as diepoxybutane (DEB) or mitomycin C (MMC) is the ‘gold standard’ test for the diagnosis of FA. <h3>Objective</h3> To study the variability, the diagnostic implications and the clinical impact of chromosome fragility in FA. <h3>Methods</h3> Data are presented from 198 DEB-induced chromosome fragility tests in patients with and without FA where information on genetic subtype, cell sensitivity to MMC and clinical data were available. <h3>Results</h3> This large series allowed quantification of the variability and the level of overlap in ICL sensitivity among patients with FA and the normal population. A new chromosome fragility index is proposed that provides a cut-off diagnostic level to unambiguously distinguish patients with FA, including mosaics, from non-FA individuals. Spontaneous chromosome fragility and its correlation with DEB-induced fragility was also analysed, indicating that although both variables are correlated, 54% of patients with FA do not have spontaneous fragility. The data reveal a correlation between malformations and sensitivity to ICL-inducing agents. This correlation was also statistically significant when the analysis was restricted to patients from the FA-A complementation group. Finally, chromosome fragility does not correlate with the age of onset of haematological disease. <h3>Conclusions</h3> This study proposes a new chromosome fragility index and suggests that genome instability during embryo development may be related to malformations in FA, while DEB-induced chromosome breaks in T cells have no prognostic value for the haematological disease." @default.
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• W2036706172 date "2011-01-07" @default.
• W2036706172 modified "2023-10-18" @default.
• W2036706172 title "Chromosome fragility in patients with Fanconi anaemia: diagnostic implications and clinical impact" @default.
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• W2036706172 doi "https://doi.org/10.1136/jmg.2010.084210" @default.
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