Topics in Pediatric Leukemia -- Fanconi's Anemia: New Insights

Noah Federman, MD; Kathleen M. Sakamoto, MD, PhD

In This Article


FA cells are characteristically hypersensitive to DNA crosslinking agents, and diagnosis is established by confirming an increased chromosomal breakage in peripheral blood lymphocytes DNA in the presence of diepoxybutane (DEB) or mitomycin C (MMC) -- the so-called "DEB/MMC stress test.[14]" The DEB test should be performed on any patient with the clinical features of FA. Also, any patient with aplastic anemia or MDS who is going to receive conditioning for a stem cell transplant (SCT) should be tested, whether or not other congenital anomalies are present, because disastrous side effects from the toxicity of conditioning may result from the underlying hypersensitivity of FA cells to genotoxins.

New developments in diagnosis include the use of retrovirally cloned FA cDNAs that can subtype the patient's particular complement of FA protein. Chromosome breakage tests can now be performed on fetal blood, chorionic villus, and amniotic cells, which offer prenatal diagnosis of FA.[15] Also, flow cytometry can be used to diagnose FA by demonstrating a prolonged progression and arrest in the G2 phase of the cell cycle.[16] For a complete list of FA testing and treatment centers, visit Fanconi Anemia Research Fund, Inc .


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