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hrp0097p1-407 | Adrenals and HPA Axis | ESPE2023

17OHP levels to diagnose Non-Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency (NC-CAH) in children with precocious pubarche

Chagas Nathália , Aragon Davi , Mermejo Livia , de Castro Margaret , Moreira Ayrton , Antonini Sonir

Background: Basal 17OHP levels to indicate an ACTH-stimulation test and post-ACTH 17OHP cut-off levels diagnosing NC-CAH vary among different guidelines.Objective: To establish the performance of basal and post-ACTH 17OHP concentrations for the NC-CAH diagnosis in children with precocious pubarche (PP).Methods: Clinical, biochemical, and molecular analysis from 202 PP patients subm...

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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 ...

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hrp0094fc1.6 | Adrenal | ESPE2021

Tumor DNA methylation profiling as a prognostic marker for pediatric patients with adrenocortical tumors

Bueno Ana Carolina , da Silva Rui M P , Stecchini Monica F. , Gutierrez Junier M , Cardinalli Izilda A , Scrideli Carlos A , Junqueira Thais , Molina Carlos A F , Ramalho Fernando S , Tucci Silvio , Coeli-Lacchini Fernanda B , Moreira Ayrton C , Ramalho Leandra N Z , Brandalise Silvia R , Yunes Jose A , de Castro Margaret , Vencio Ricardo Z N , Antonini Sonir R ,

Abnormal DNA methylation contributes to tumor progression and is emerging as a prognostic marker in several types of cancers. To investigate whether DNA methylation is associated with pediatric adrenocortical tumor (pACT) presentation and patient prognosis, we analyzed the methylation profile of 57 tumors (MethylationEPIC BeadChip Array-Illumina) and patients clinicopathological features and outcome. The study comprehended 40 girls and 17 boys, with median age at diagnos...

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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...

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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...

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ESPE Abstracts

17OHP levels to diagnose Non-Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency (NC-CAH) in children with precocious pubarche

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

Tumor DNA methylation profiling as a prognostic marker for pediatric patients with adrenocortical tumors

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

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

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