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This version published online on November 16, 2004
Journal of Clinical Endocrinology & Metabolism, doi:10.1210/jc.2004-0942
A more recent version of this article appeared on February 1, 2005
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Submitted on May 24, 2004
Accepted on November 8, 2004

Amplification of the Steroidogenic Factor 1 (SF-1) Gene in Childhood Adrenocortical Tumors

Bonald C. de Figueiredo, Luciane R. Cavalli, Mara Albonei D. Pianovski, Enzo Lalli, Romolo Sandrini, Raul C. Ribeiro, Gerard Zambetti, Luiz DeLacerda, Giovanna Assis Rodrigues, and Bassem R. Haddad*

Center for Molecular Genetics and Cancer Research - CEGEMPAC, Department of Pediatrics, Federal University of Paraná, Curitiba PR, Brazil; Department of Oncology and Institute for Molecular and Human Genetics/Lombardi Comprehensive Cancer Center, Georgetown University, 3800 Reservoir Rd, NW, M4000, Washington, D.C., 20007, USA; Division of Pediatric Hematology and Oncology, Department of Pediatrics, Federal University of Paraná, Curitiba PR, Brazil; Institut de Génétique et de Biologie Moléculaire et Cellulaire CNRS-INSERM-Université Louis Pasteur, 1 rue L. Fries 67404 Illkirch, France; Division of Pediatric Endocrinology, Department of Pediatrics, Federal University of Paraná, Curitiba PR, Brazil; Department of Hematology-Oncology, and the International Outreach Program, St. Jude Children's Research Hospital, Memphis TN, USA; Department of Pediatrics, University of Tennessee, College of Medicine, Memphis, TN, USA; Department of Biochemistry, St. Jude Children's Research Hospital, Memphis TN, USA

* To whom correspondence should be addressed.
Bassem R. Haddad, E-mail: haddadb1{at}georgetown.edu

Southern Brazil has one of the highest incidences of childhood adrenocortical tumors (ACT), occurring 10-15 times more frequently than worldwide estimates. The reasons for this increase remain elusive. In an attempt to further characterize the genetic changes in childhood adrenocortical tumors, we recently detected a consistent gain of 9q (or a portion of it) in 8/9 cases of pediatric ACT and amplification of 9q34 in the majority of these cases using comparative genomic hybridization (CGH). Other studies involving both childhood and adult ACT have corroborated these findings. To follow up on these results, we have examined whether the Steroidogenic factor 1 (SF-1) gene, which is located in this chromosomal region and plays an important role in the development and function of the adrenal cortex is amplified in these ACT cases. We detected increased copy number of the SF-1 gene in all 8 cases with 9q gain suggesting an association between an increased copy number of the SF-1 gene and adrenocortical tumorigenesis.


Key words: FISH • Steroidogenic Factor 1 (SF-1) • adrenal cortex • childhood tumors




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