What is the role of diepoxybutane incubation in the diagnosis of aplastic anemia?

Updated: Jan 29, 2021
  • Author: Sameer Bakhshi, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Increased chromosomal breakage in the presence of DNA cross-linking agents such as diepoxybutane or mitomycin C is observed in cases with inherited bone marrow failure syndromes (IBMFS). Analysis is performed on metaphase of peripheral blood lymphocytes. Results are reported as aberrations per cell and the number of cells with breaks or radial forms. If the results of a breakage study are normal but there is a high index of suspicion for IBMFS, the test should be performed on skin fibroblasts.

This test is required even in the absence of phenotypic features of Fanconi anemia, because up to 50% of those patients may not have any clinical stigmata. Characteristic findings on chest x-ray and imaging of hands/forearms may help identify various IBMFS.

Newer tests, such as next-generation sequencing (NGS) may help differentiate aplastic anemia from MDS and also identify a subset of patients with a susceptibility for future progression to MDS/AML. [61]

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