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

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

In This Article


FA is the most common of the congenital bone marrow failure syndromes. The clinical phenotype of the syndrome is quite heterogeneous with patients exhibiting a wide array of congenital anomalies, of which, ultimately, the most serious is bone marrow failure. In the past decade, a greater understanding has been gained of the pathogenesis of FA with the cloning of 7 genes and identification of 8 complementation groups; somehow the interaction of these elements is necessary for DNA repair and response to genotoxic stress.

The current treatments for FA rely on androgen therapy for initial bone marrow failure and SCT. Although potentially curative for the bone marrow failure, SCT is not without very significant morbidity and mortality for a number of FA patients. Unfortunately, the risk of secondary malignancy also is high, and the rate of nonhematologic cancers is likely not affected by SCT. If substantial advances are made in gene therapy, this may become a viable option for FA patients by curing hematologic failure and reducing overall predisposition to malignancy.


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