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International Fanconi Anemia Registry: relation of clinical symptoms to
diepoxybutane sensitivity
AD Auerbach, A Rogatko and TM Schroeder-Kurth
Laboratory for Investigative Dermatology, Rockefeller University, New York
10021-6399.
Fanconi anemia (FA) is 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, study of
cellular sensitivity to the clastogenic effect of DNA cross-linking agents
such as diepoxybutane (DEB) has been used to facilitate the diagnosis. Data
from DEB-induced chromosomal breakage studies of 328 peripheral blood
specimens from patients considered at risk for FA were analyzed using a
stepwise multivariate logistic regression, in order to determine which
method of representing the data best discriminated between DEB-sensitive
(DEB+) and DEB-insensitive (DEB-) cases. Similar methods were applied to
the data from the International Fanconi Anemia Registry (IFAR) to determine
whether DEB+ and DEB- cases may be considered as distinct clinical
entities, and if so, which variables provide the best discrimination
between the two groups. We conclude that hypersensitivity to the
clastogenic effect of DEB is a useful discriminator for FA. A simplified
scoring method for classifying patients on the basis of eight clinical
manifestations that are the best predictors for FA is presented. Our data
indicate that the clinical diversity in FA is more widespread than
previously recognized.
Volume 73,
Issue 2,
pp. 391-396,
02/01/1989
Copyright © 1989 by The American Society of Hematology
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