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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...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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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. |
format | Online Article Text |
id | pubmed-10135914 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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