TY - JOUR
T1 - Congenital hypoplastic anemia (Diamond-Blackfan syndrome) terminating in acute myelogenous leukemia
AU - Wasser, J. S.
AU - Yolken, R.
AU - Miller, D. R.
AU - Diamond, L.
N1 - Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 1978
Y1 - 1978
N2 - 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 2 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.
AB - 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 2 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.
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U2 - 10.1182/blood.v51.5.991.991
DO - 10.1182/blood.v51.5.991.991
M3 - Article
C2 - 273451
AN - SCOPUS:0018142240
SN - 0006-4971
VL - 51
SP - 991
EP - 995
JO - Blood
JF - Blood
IS - 5
ER -