title: Genetics and genomics of childhood adrenocortical tumors.
abstract: Adrenocortical tumors in children are usually diagnosed because of signs of virilization and their prognosis is poor. They possess several distinct pathological features compared to adrenocortical tumors in adults and have an exceptional prevalence in southern Brazil, where they are nearly invariably linked to the presence of a germline specific TP53 (R337H) mutation. Other important factors in childhood adrenocortical tumor pathogenesis are overexpression of the Steroidogenic Factor-1 transcription factor and imprinting defects in the 11p15 genomic region, causing overexpression of Insulin-like Growth Factor-2. Genomic studies have revealed the prognostic relevance of the expression of some Major Histocompatibility Complex genes and the deregulation of the Insulin-like Growth Factor/mammalian Target Of Rapamycin pathway by microRNAs in these tumors. Our hope is that these findings will constitute the basis for the development of novel therapies that will be more active against these tumors and less toxic for the patients.
authors.affiliation: Institut de Pharmacologie Moléculaire et Cellulaire, CNRS UMR 6097, France.
authors.forename: Abeer
authors.initials: A
authors.lastname: El Wakil
authors.forename: Mabrouka
authors.initials: M
authors.lastname: Doghman
authors.forename: Perle
authors.initials: P
authors.lastname: Latre De Late
authors.forename: Gerard P
authors.initials: GP
authors.lastname: Zambetti
authors.forename: Bonald C
authors.initials: BC
authors.lastname: Figueiredo
authors.forename: Enzo
authors.initials: E
authors.lastname: Lalli
mesh_terms: D000306:Adrenal Cortex Neoplasms / Q000235:genetics*; D002648:Child; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D020869:Gene Expression Profiling; D018392:Genomic Imprinting / Q000235:genetics; D023281:Genomics; D006801:Humans; D015398:Signal Transduction / Q000235:genetics; D013002:Somatomedins / Q000235:genetics / Q000378:metabolism; D054339:Steroidogenic Factor 1 / Q000235:genetics; D058570:TOR Serine-Threonine Kinases / Q000235:genetics / Q000378:metabolism; D016159:Tumor Suppressor Protein p53 / Q000235:genetics
chemical_list: D013002:Somatomedins; D054339:Steroidogenic Factor 1; D016159:Tumor Suppressor Protein p53; D058570:TOR Serine-Threonine Kinases