Congenital hypoplastic anemia (Diamond-Blackfan syndrome) terminating in
acute myelogenous leukemia
JS Wasser, R Yolken, DR Miller and L Diamond
A 31-yr-old female with congenital hypoplastic anemia (Diamond-Blackfan
syndrome) whose long course terminated in acute myelogenous leukemia is
described. In contrast to Fanconi anemia, malignant transformation rarely
occurs in congenital hypoplastic anemia. This patient's diagnosis of
congenital hypoplastic anemia is supported by her clinical course, absence
of renal abnormalities, a negative family history for hematologic
disorders, normal chromosome studies, failure of her skin fibroblasts to
transform in culture with SV-40 virus, macrocytic erythrocyte indices,
erythrocyte enzyme studies, and bone marrow findings. Only two other cases
of malignancy have been reported in patients with congenital hypoplastic
anemia. The development of malignancy in these patients suggests that
malignant transformation may be a concern in the long-term progression of
congenital hypoplastic anemia.
Volume 51,
Issue 5,
pp. 991-995,
05/01/1978
Copyright © 1978 by The American Society of Hematology
