The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations
Pediatric blood & cancer, 2012•Wiley Online Library
Fanconi anemia (FA) is characterized by progressive marrow failure, congenital anomalies,
and predisposition to malignancy. Biallelic FANCD1/BRCA2 mutations are the genetic basis
of disease in a small proportion of children with FA with earlier onset and increased
incidence of leukemia and solid tumors. Patients with FA have increased sensitivity to
chemotherapy and radiation, and upon development of a solid tumor, require modification of
these therapies. We report clinical and molecular features of three patients with FA …
and predisposition to malignancy. Biallelic FANCD1/BRCA2 mutations are the genetic basis
of disease in a small proportion of children with FA with earlier onset and increased
incidence of leukemia and solid tumors. Patients with FA have increased sensitivity to
chemotherapy and radiation, and upon development of a solid tumor, require modification of
these therapies. We report clinical and molecular features of three patients with FA …
Abstract
Fanconi anemia (FA) is characterized by progressive marrow failure, congenital anomalies, and predisposition to malignancy. Biallelic FANCD1/BRCA2 mutations are the genetic basis of disease in a small proportion of children with FA with earlier onset and increased incidence of leukemia and solid tumors. Patients with FA have increased sensitivity to chemotherapy and radiation, and upon development of a solid tumor, require modification of these therapies. We report clinical and molecular features of three patients with FA associated with FANCD1/BRCA2 mutations, including two novel mutations, and discuss treatment of malignancy and associated side effects in this particularly vulnerable group. Pediatr Blood Cancer 2012; 58: 462–465. © 2011 Wiley Periodicals, Inc.
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