title: Amplification of the steroidogenic factor 1 gene in childhood adrenocortical tumors.
abstract: Southern Brazil has one of the highest incidences of childhood adrenocortical tumors (ACTs), 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 ACTs, we recently detected a consistent gain of 9q (or a portion of it) in eight of nine cases of pediatric ACTs and amplification of 9q34 in the majority of these cases using comparative genomic hybridization. Other studies involving both childhood and adult ACTs have corroborated these findings. To follow up on these results, we 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 eight cases with 9q gain, suggesting an association between an increased copy number of the SF-1 gene and adrenocortical tumorigenesis.
authors.affiliation: Department of Pediatrics, Center for Molecular Genetics and Cancer Research In Children, Federal University of Paraná, Curitiba PR 80.030-110, Brazil.
authors.forename: Bonald C
authors.initials: BC
authors.lastname: Figueiredo
authors.forename: Luciane R
authors.initials: LR
authors.lastname: Cavalli
authors.forename: Mara Albonei D
authors.initials: MA
authors.lastname: Pianovski
authors.forename: Enzo
authors.initials: E
authors.lastname: Lalli
authors.forename: Romolo
authors.initials: R
authors.lastname: Sandrini
authors.forename: Raul C
authors.initials: RC
authors.lastname: Ribeiro
authors.forename: Gerard
authors.initials: G
authors.lastname: Zambetti
authors.forename: Luiz
authors.initials: L
authors.lastname: DeLacerda
authors.forename: Giovanna Assis
authors.initials: GA
authors.lastname: Rodrigues
authors.forename: Bassem R
authors.initials: BR
authors.lastname: Haddad
mesh_terms: D000293:Adolescent; D000306:Adrenal Cortex Neoplasms / Q000453:epidemiology / Q000235:genetics*; D001938:Brazil / Q000453:epidemiology; D002648:Child; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005784:Gene Amplification; D018398:Homeodomain Proteins; D006801:Humans; D015994:Incidence; D018160:Receptors, Cytoplasmic and Nuclear; D054339:Steroidogenic Factor 1; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; C515057:NR5A1 protein, human; D018160:Receptors, Cytoplasmic and Nuclear; D054339:Steroidogenic Factor 1; D014157:Transcription Factors