Leukemia and preleukemia in Fanconi anemia patients: a review of the literature and report of the International Fanconi Anemia Registry
AD Auerbach, RG Allen - Cancer genetics and cytogenetics, 1991 - Elsevier
Fanconi anemia (FA) is an autosomal recessive disorder characterized clinically by a
progressive pancytopenia, diverse congenital abnormalities, and increased predisposition
to malignancy. Although a variable phenotype makes accurate diagnosis on the basis of
clinical manifestations difficult in some patients, the unique sensitivity of FA cells to the
clastogenic effect of DNA cross-linking agents such as diepoxybutane (DEB) can be used to
facilitate the diagnosis. We review all cases of FA reported to have leukemia, preleukemia …
progressive pancytopenia, diverse congenital abnormalities, and increased predisposition
to malignancy. Although a variable phenotype makes accurate diagnosis on the basis of
clinical manifestations difficult in some patients, the unique sensitivity of FA cells to the
clastogenic effect of DNA cross-linking agents such as diepoxybutane (DEB) can be used to
facilitate the diagnosis. We review all cases of FA reported to have leukemia, preleukemia …