UNCOVERING THE MOLECULAR MECHANISMS UNDERLYING BONE TUMORIGENESIS

Publicado em 09/06/2023 - ISBN: 978-85-5722-785-9

Título do Trabalho
UNCOVERING THE MOLECULAR MECHANISMS UNDERLYING BONE TUMORIGENESIS
Autores
  • Felipe Luz Torres Silva
  • Patricia Yoshioka Jotta
  • Mayara Ferreira Euzébio
  • José Andrés Yunes
  • Mariana Maschietto
Modalidade
Apresentação de Pôster
Área temática
Genética Animal e Evolução
Data de Publicação
09/06/2023
País da Publicação
Brasil
Idioma da Publicação
Inglês
Página do Trabalho
https://www.even3.com.br/anais/v-gbmeeting/609556-uncovering-the-molecular-mechanisms-underlying-bone-tumorigenesis
ISBN
978-85-5722-785-9
Palavras-Chave
Pediatric cancer, Bone sarcomas, single-cell RNAseq
Resumo
Among the various childhood cancers, those originating from bone tissue account for 4% to 8% of cases and present a high rate of mortality and morbidity. Among them, osteosarcomas and Ewing sarcomas are the most prevalent (50% and 40%, respectively). Osteosarcomas present complex karyotypes, with numerous structural alterations, copy number alterations (CNA), aneuploidies and some gene fusions, such as FAM105B-EIF1, JARID2-WRAP53, TNFRSF1A-RAB10, MAP4K4-GAS2, TET3-MEF2C and USP43-FGD2. Ewing sarcomas are embryonic tumors, which typically have few mutated genes. The main molecular alterations are the structural rearrangements involving the EWS and FLI1 or EWS and ERG families. However, although these translocations are necessary, they are not sufficient for the Ewing sarcomatogenesis. Ewing-like sarcomas include CIC and BCOR -rearranged sarcomas, EWSR1-non-ETS sarcomas and unclassified undifferentiated round cell sarcomas. Transcriptome characterization of tumors is typically based on mixed cell populations and lacks resolution to determine specific cell types to elucidate intratumoral heterogeneity and biology of bone tumors. Single-cell RNA sequencing (sc-RNAseq) could both access this intratumoral heterogeneity as well as the cellular crosstalk with the tumor microenvironment. The main goal of this project is to integrate multiomics analysis, such as methylome, Whole Exome Sequencing (WES) and sc-RNAseq to identify the accumulation of changes, whether epigenetic, structural, mutational or gene expression, necessary to trigger different phenotypes among bone sarcomas. From the 250 pediatric solid tumor methylomes, used for tumor classification, we selected 20 cases that were molecularly classified as osteosarcoma, Ewing sarcoma or Ewing-like sarcoma. Of these, all have a paired WES and will proceed to a sc-RNAseq. So far, we have chracterized the CNAs. Osteosarcomas had chromotripsis events, with MYC amplification and PTEN deletion while Ewing sarcoma presented EGFR and chromosomes 15 and 16 amplifications. Ewing-like sarcomas were reclassified in BCOR and CIC alterated sarcomas, both showing a flat genome, which are in line with the literature. Analysis of WES are undeway to then proceed to 3D cell culture followed by sc-RNAseq.
Título do Evento
V GBMeeting
Cidade do Evento
Campinas
Título dos Anais do Evento
Anais do GBMeeting: Encontro Anual da Pós Graduação em Genética e Biologia Molecular da UNICAMP
Nome da Editora
Even3
Meio de Divulgação
Meio Digital
DOI
LinkObter o DOI

Como citar

SILVA, Felipe Luz Torres et al.. UNCOVERING THE MOLECULAR MECHANISMS UNDERLYING BONE TUMORIGENESIS.. In: Anais do GBMeeting: Encontro Anual da Pós Graduação em Genética e Biologia Molecular da UNICAMP. Anais...Campinas(SP) Unicamp, 2023. Disponível em: https//www.even3.com.br/anais/v-gbmeeting/609556-UNCOVERING-THE-MOLECULAR-MECHANISMS-UNDERLYING-BONE-TUMORIGENESIS. Acesso em: 20/06/2024

Trabalho

Even3 Publicacoes