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Fanconi anemia (FA) is a chromosomal instability syndrome characterized by various congenital malformations, progressive pancytopenia, chromosome breakage and predisposition to malignancy (Alter, 2003a). Autosomal recessive, FA is also inherited with X-linked inheritance reported in FA complementation group B (Meetei et al., 2004). FA pathway controls genomic stabilisation in mammalian cells and is referred to as FA pathway of antioncogenesis. Children with FA have a very high risk of developing acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). The incidence of AML in children with FA is 15.000 times that of children in the general population (Auerbach & Allen, 1991). Acute leukemia is the terminal event in about 5-20% of these cases (Ebell et al., 1989), MDS in about 5-10%, and solid tumors was held responsible in about 5-10% of the remaining cases. Patients with FA are at a high risk of developing solid tumors of the head, neck, esophagus, liver and female genitalia (Alter, 2003c, Rosenberg, Greene & Alter, 2003). In order to clarify the relationship between FA and cancer, the description of FA was recently updated as “an inherited genomic instability disorder, caused by mutations in genes regulating replication-dependent removal of interstrand DNA crosslinks” (Moldovan & D’Andrea, 2009). The research on the complex roles of FA proteins in repairing DNA improved our understanding of cancer biology. In this chapter, my main objective is twofold: to analyze clinical findings, diagnosis and hematological characteristics of FA, and to evaluate the relationship between FA pathway and cancer from the perspective of a pediatrician.

An Emerging Face of Fanconi Anemia: Cancer