SF-1 overexpression in childhood adrenocortical tumours.
The steroidogenic factor 1 (SF-1) gene encodes a transcription factor playing a pivotal role in the regulation of adrenogenital development. We have recently shown that SF-1 is amplified in childhood adrenocortical tumours (ACT). This study was aimed to assess if an increase in SF-1 gene copy number was associated with increased protein levels and to study the correlation between SF-1 expression and ACT clinical parameters. An increased SF-1 copy number was detected in eight of the 10 ACT cases studied. Conversely, the SF-1 protein was found to be overexpressed in all cases, compared to normal age-matched adrenal glands. No significant correlation was found between SF-1 protein levels and its gene copy number. Furthermore, no significant correlation existed with histological grade or with the clinical manifestation or evolution of disease. This data show that SF-1 overexpression is widespread in childhood ACT and is likely to play a role in its pathogenesis.
Division of Pediatric Hematology and Oncology, Department of Pediatrics, Federal University of Paraná, Curitiba PR, Brazil.
Mara A D
MA
Pianovski
Luciane R
LR
Cavalli
Bonald C
BC
Figueiredo
Savana C L
SC
Santos
Mabrouka
M
Doghman
Raul C
RC
Ribeiro
Antonio G
AG
Oliveira
Edson
E
Michalkiewicz
Giovanna A
GA
Rodrigues
Gerard
G
Zambetti
Bassem R
BR
Haddad
Enzo
E
Lalli
D000306:Adrenal Cortex Neoplasms / Q000235:genetics* / Q000378:metabolism; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004171:Diploidy; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D019656:Loss of Heterozygosity; D008297:Male; D009363:Neoplasm Proteins / Q000235:genetics* / Q000378:metabolism; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics* / Q000378:metabolism; D054339:Steroidogenic Factor 1; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism
D018398:Homeodomain Proteins; C515057:NR5A1 protein, human; D009363:Neoplasm Proteins; D018160:Receptors, Cytoplasmic and Nuclear; D054339:Steroidogenic Factor 1; D014157:Transcription Factors