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Blood, 1 April 2004, Vol. 103, No. 7, pp. 2554-2559.
Prepublished online as a Blood First Edition Paper on December 11, 2003; DOI 10.1182/blood-2003-06-1970.
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HEMATOPOIESIS
Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood
Betsy Hirsch,
Akiko Shimamura,
Lisa Moreau,
Shari Baldinger,
Maha Hag-alshiekh,
Bruce Bostrom,
Susan Sencer, and
Alan D. D'Andrea
From the Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Children's Hospital, Harvard Medical School, Boston, MA; Abbott Northwestern Hospital, Minneapolis, MN; and Department of Pediatric Hematology/Oncology, Children's Hospitals and Clinics, Minneapolis, MN.
The clinical, cytogenetic, and molecular findings of 2 Fanconi anemia (FA) subtype D1 kindreds, initially identified through a young child with a solid tumor (medullobastoma, Wilms tumor), are described. Each kindred subsequently had a second affected child; one developed Wilms tumor followed by a medulloblastoma, and the other developed T-lineage acute lymphoblastic leukemia. Cytogenetic studies revealed an unusually high spontaneous chromosome aberration rate, contrasting with other FA subtypes. Molecular analysis revealed biallelic BRCA2/FANCD1 mutations. The patients did not exhibit bone marrow failure. Our studies suggest that the D1 subtype represents a severe end of the cytogenetic spectrum within FA, consistent with a critical downstream role of BRCA2 in the FA pathway. Furthermore, this FA subgroup may be preferentially associated with an increased predisposition to solid tumors in early childhood. Recognition of this constellation of findings has significant implications for medical management and genetic counseling of FA families.
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|
|
|
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|
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|
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|
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|
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[Full Text]
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|
|
|
|
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|
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