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Somatic Copy Number Alteration in Circulating Tumor DNA for Monitoring of Pediatric Patients with Cancer

Pediatric tumors share few recurrent mutations and are instead characterized by copy number alterations (CNAs). The cell-free DNA (cfDNA) is a prominent source for the detection of cancer-specific biomarkers in plasma. We profiled CNAs in the tumor tissues for further evaluation of alterations in 1q...

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Autores principales: Ruas, Juliana Silveira, Silva, Felipe Luz Torres, Euzébio, Mayara Ferreira, Biazon, Tássia Oliveira, Daiggi, Camila Maia Martin, Nava, Daniel, Franco, Mayra Troiani, Cardinalli, Izilda Aparecida, Cassone, Alejandro Enzo, Pereira, Luiz Henrique, Seidinger, Ana Luiza, Maschietto, Mariana, Jotta, Patricia Yoshioka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10135914/
https://www.ncbi.nlm.nih.gov/pubmed/37189699
http://dx.doi.org/10.3390/biomedicines11041082
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author Ruas, Juliana Silveira
Silva, Felipe Luz Torres
Euzébio, Mayara Ferreira
Biazon, Tássia Oliveira
Daiggi, Camila Maia Martin
Nava, Daniel
Franco, Mayra Troiani
Cardinalli, Izilda Aparecida
Cassone, Alejandro Enzo
Pereira, Luiz Henrique
Seidinger, Ana Luiza
Maschietto, Mariana
Jotta, Patricia Yoshioka
author_facet Ruas, Juliana Silveira
Silva, Felipe Luz Torres
Euzébio, Mayara Ferreira
Biazon, Tássia Oliveira
Daiggi, Camila Maia Martin
Nava, Daniel
Franco, Mayra Troiani
Cardinalli, Izilda Aparecida
Cassone, Alejandro Enzo
Pereira, Luiz Henrique
Seidinger, Ana Luiza
Maschietto, Mariana
Jotta, Patricia Yoshioka
author_sort Ruas, Juliana Silveira
collection PubMed
description Pediatric tumors share few recurrent mutations and are instead characterized by copy number alterations (CNAs). The cell-free DNA (cfDNA) is a prominent source for the detection of cancer-specific biomarkers in plasma. We profiled CNAs in the tumor tissues for further evaluation of alterations in 1q, MYCN and 17p in the circulating tumor DNA (ctDNA) in the peripheral blood at diagnosis and follow-up using digital PCR. We report that among the different kinds of tumors (neuroblastoma, Wilms tumor, Ewing sarcoma, rhabdomyosarcoma, leiomyosarcoma, osteosarcoma and benign teratoma), neuroblastoma presented the greatest amount of cfDNA, in correlation with tumor volume. Considering all tumors, cfDNA levels correlated with tumor stage, metastasis at diagnosis and metastasis developed during therapy. In the tumor tissue, at least one CNA (at CRABP2, TP53, surrogate markers for 1q and 17p, respectively, and MYCN) was observed in 89% of patients. At diagnosis, CNAs levels were concordant between tumor and ctDNA in 56% of the cases, and for the remaining 44%, 91.4% of the CNAs were present only in cfDNA and 8.6% only in the tumor. Within the cfDNA, we observed that 46% and 23% of the patients had MYCN and 1q gain, respectively. The use of specific CNAs as targets for liquid biopsy in pediatric patients with cancer can improve diagnosis and should be considered for monitoring of the disease response.
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spelling pubmed-101359142023-04-28 Somatic Copy Number Alteration in Circulating Tumor DNA for Monitoring of Pediatric Patients with Cancer Ruas, Juliana Silveira Silva, Felipe Luz Torres Euzébio, Mayara Ferreira Biazon, Tássia Oliveira Daiggi, Camila Maia Martin Nava, Daniel Franco, Mayra Troiani Cardinalli, Izilda Aparecida Cassone, Alejandro Enzo Pereira, Luiz Henrique Seidinger, Ana Luiza Maschietto, Mariana Jotta, Patricia Yoshioka Biomedicines Article Pediatric tumors share few recurrent mutations and are instead characterized by copy number alterations (CNAs). The cell-free DNA (cfDNA) is a prominent source for the detection of cancer-specific biomarkers in plasma. We profiled CNAs in the tumor tissues for further evaluation of alterations in 1q, MYCN and 17p in the circulating tumor DNA (ctDNA) in the peripheral blood at diagnosis and follow-up using digital PCR. We report that among the different kinds of tumors (neuroblastoma, Wilms tumor, Ewing sarcoma, rhabdomyosarcoma, leiomyosarcoma, osteosarcoma and benign teratoma), neuroblastoma presented the greatest amount of cfDNA, in correlation with tumor volume. Considering all tumors, cfDNA levels correlated with tumor stage, metastasis at diagnosis and metastasis developed during therapy. In the tumor tissue, at least one CNA (at CRABP2, TP53, surrogate markers for 1q and 17p, respectively, and MYCN) was observed in 89% of patients. At diagnosis, CNAs levels were concordant between tumor and ctDNA in 56% of the cases, and for the remaining 44%, 91.4% of the CNAs were present only in cfDNA and 8.6% only in the tumor. Within the cfDNA, we observed that 46% and 23% of the patients had MYCN and 1q gain, respectively. The use of specific CNAs as targets for liquid biopsy in pediatric patients with cancer can improve diagnosis and should be considered for monitoring of the disease response. MDPI 2023-04-03 /pmc/articles/PMC10135914/ /pubmed/37189699 http://dx.doi.org/10.3390/biomedicines11041082 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Ruas, Juliana Silveira
Silva, Felipe Luz Torres
Euzébio, Mayara Ferreira
Biazon, Tássia Oliveira
Daiggi, Camila Maia Martin
Nava, Daniel
Franco, Mayra Troiani
Cardinalli, Izilda Aparecida
Cassone, Alejandro Enzo
Pereira, Luiz Henrique
Seidinger, Ana Luiza
Maschietto, Mariana
Jotta, Patricia Yoshioka
Somatic Copy Number Alteration in Circulating Tumor DNA for Monitoring of Pediatric Patients with Cancer
title Somatic Copy Number Alteration in Circulating Tumor DNA for Monitoring of Pediatric Patients with Cancer
title_full Somatic Copy Number Alteration in Circulating Tumor DNA for Monitoring of Pediatric Patients with Cancer
title_fullStr Somatic Copy Number Alteration in Circulating Tumor DNA for Monitoring of Pediatric Patients with Cancer
title_full_unstemmed Somatic Copy Number Alteration in Circulating Tumor DNA for Monitoring of Pediatric Patients with Cancer
title_short Somatic Copy Number Alteration in Circulating Tumor DNA for Monitoring of Pediatric Patients with Cancer
title_sort somatic copy number alteration in circulating tumor dna for monitoring of pediatric patients with cancer
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10135914/
https://www.ncbi.nlm.nih.gov/pubmed/37189699
http://dx.doi.org/10.3390/biomedicines11041082
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