hrp0095fc5.1 | Adrenals and HPA Axis | ESPE2022

Transcriptome profiling of adrenocortical tumors from children with unfavorable disease presentation.

Bueno Ana C , da Silva Jr Rui M P , Stecchini Mônica F , Cardinalli Izilda A , Junqueira Thais , A Scrideli Carlos , AF Molina Carlos , Tucci Silvio , Coeli-Lacchini Fernanda B , Moreira Ayrton C , Ramalho Leandra NZ , Brandalise Silvia R , Yunes José A , Vêncio Ricardo ZN , de Castro Margaret , Antonini Sonir R

Children diagnosed with adrenocortical tumors (ACT) have variable prognosis depending on disease presentation at diagnosis. Available therapeutic options render excellent outcome for a subset of patients, but limited improvement in the survival of those diagnosed with non-localized/advanced disease. ACT DNA methylation was recently demonstrated to be a robust and independent prognostic biomarker. Aiming to identify potential therapeutic targets for these children, we compared ...

hrp0097p1-200 | Adrenals and HPA Axis | ESPE2023

Evaluation of chromatin remodeling factors ATRX and DAXX and telomeres in pediatric adrenocortical tumors.

F Stecchini Monica , Carolina Bueno Ana , R de Campos Mateus , Marrero-Gutiérrez Junier , A Cardinalli Izilda , Junqueira Tais , A Scridelli Carlos , AF Molina Carlos , Tucci Silvio , B Coeli-Lacchini Fernanda , C Moreira Ayrton , S Ramalho Fernando , NZ Ramalho Leandra , R Brandalise Silvia , A Yunes Jose , Chahud Fernando , ZN Vêncio Ricardo , de Castro Margaret , R Antonini Sonir

Background: Impairment of the chromatin remodeling factors ATRX and DAXX and telomeres abnormality play a role in cancer biology, influencing the clinical outcomes. However, their roles in adrenal tumorigenesis require broader investigation.Aim: To evaluate ATRX and DAXX genotype and expression, telomere length, and the alternative lengthening of telomeres (ALT), as well as their clinical significance, in primary adrenoc...

hrp0097p1-399 | Adrenals and HPA Axis | ESPE2023

Transcriptome profiling evaluation of pediatric adrenocortical tumors (pACT) reveals a favorable-prognosis transcription signature and potential therapeutic targets.

Carolina Bueno Ana , Milton P da Silva Jr Rui , F Stecchini Mônica , Marrero-Gutiérrez Junier , A Cardinalli Izilda , Junqueira Tais , A Scrideli Carlos , AF Molina Carlos , Tucci Silvio , B Coeli-Lacchini Fernanda , C Moreira Ayrton , NZ Ramalho Leandra , R Brandalise Silvia , A Yunes Jose , ZN Vêncio Ricardo , de Castro Margaret , R Antonini Sonir

Aim: To uncover a feasible tumor expression prognostic signature and potential therapeutic targets for children with pACT.Methods: Tumor RNAseq from 53 pACT children (70% girls, median age: 1.7yrs) was performed (Illumina). Using a robust, state-of-the-art, differential gene expression analysis pipeline, differentially expressed genes (DEGs: adjusted P<0.05 and |log2 fold-change|>1) were identified (DESeq2...