IDENTIFICATION OF SMARC DEFICIENT PEDIATRIC TUMORS FOR DRUG SCREENING/TESTING

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

Título do Trabalho
IDENTIFICATION OF SMARC DEFICIENT PEDIATRIC TUMORS FOR DRUG SCREENING/TESTING
Autores
  • Mayara Ferreira Euzébio
  • Felipe Luz Torres Silva
  • Iva Loureiro Hoffmann
  • Camila Maia Martin Daiggi
  • Izilda Aparecida Cardinalli
  • Helder Tedeschi
  • Ana Luiza Seidinger
  • Patricia Yoshioka Jotta
  • 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/609741-identification-of-smarc-deficient-pediatric-tumors-for-drug-screeningtesting
ISBN
978-85-5722-785-9
Palavras-Chave
pediatric cancers, molecular markers , methylation profiles , copy number alterations, SMARC
Resumo
Identification of SMARC deficient pediatric tumors for drug screening/testing Mayara Ferreira Euzébio1,2, Felipe Luz Torres Silva1,2, Iva Loureiro Hoffmann3, Camila Maia Martin Daiggi3, , Izilda Aparecida Cardinalli3, Helder Tedeschi3, Ana Luiza Seidinger1,2, Patricia Y. Jotta1,2, Mariana Maschietto1,2 1 Epigenomics Lab, Research Center, Boldrini Children’s Hospital 2 Graduate Program in Genetics and Molecular Biology - Institute of Biology, State University of Campinas (UNICAMP), Campinas, SP, Brazil. 3 Boldrini Children’s Hospital, Campinas, São Paulo, Brazil. Among pediatric cancers, solid tumors accounts for approximately with 70% of cases. Central nervous system (CNS) tumors are the second most frequent type (15%) and the first cause of death. Others solid tumors are distributed among neuroblastoma (6%), Wilms tumor (5%), non-Hodgkin lymphoma (4%), rhabdomyosarcoma (3%), retinoblastoma (3%), osteosarcoma (3%), Ewing’s sarcoma (1%), germ cell tumors (5%), hepatoblastoma and others. Cure rate is reach 90% in ideal conditions, but it is the first cause of death by disease worldwide, including in Brazil. For the survivors, patients are at high risk of long-term toxicity and treatment-associated comorbidities that impact their quality of life. The incorporation of molecular markers in tumor diagnosis has improved risk stratification, which impacts on patient prognosis. The World Health Organization already adopted the methylation profiles as the gold standard method for classification of CNS tumors, as methylomes allow to refine their classification, impacting the clinical management and opening the possibility of alternative treatments. Here, we evaluated a cohort of 242 pediatric solid tumors from individuals treated at a reference hospital in Brazil. Bisulfite-converted DNA was hybridized in the Illumina MethylationEPIC BeadChip arrays. Methylation profiles were classified in molecular entities using the DKFZ/Heidelberg CNS/sarcoma tumor package (v12.5), and the copy number alterations (CNAs) were characterized. Similar to other studies, CNS samples were classified with high-confidence classifier score (>0.84) in 80.8% of the cases. For sarcomas, 63.9% of samples were classified with high-confidence classifier score, and others embryonal tumor, the percentage was 77.7%. CNA was used to identify deletions in SMARCA1, SMARCA2, SMARCA4, SMARCA5 and SMARCB1. Deletions in genes from the SMARC family are associated poor prognosis for the patients. They are more commonly reported in high-risk tumors, such as atypical teratoid rhabdoid tumor and rhabdomyosarcomas. We found that 17.4% (42/242) of tumors have at least one SMARC deletion. While we found the more common classes of SMARC deficient tumors, other reported rarer cases, such as osteosarcomas, neuroblastomas, medulloblastomas, ependymomas and others. Primary cells from tumors that were biobanked will be treated with drugs that interfere with this molecular alteration, independent of type tumor. Financial Support: - CAPES; PRONON SIPAR 25000211368/2019-41
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

EUZÉBIO, Mayara Ferreira et al.. IDENTIFICATION OF SMARC DEFICIENT PEDIATRIC TUMORS FOR DRUG SCREENING/TESTING.. 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/609741-IDENTIFICATION-OF-SMARC-DEFICIENT-PEDIATRIC-TUMORS-FOR-DRUG-SCREENINGTESTING. Acesso em: 25/06/2024

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