Assessment of somatic mutations in urine and plasma of Wilms tumor patients

Tumor DNA has been detected in body fluids of cancer patients. Somatic tumor mutations are being used as biomarkers in body fluids to monitor chemotherapy response as a minimally invasive tool. In this study, we evaluated the potential of tracking somatic mutations in free DNA of plasma and urine co...

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Principais autores: Miguez, Ana Carolina Kerekes, Barros, Bruna D. de Figueiredo, Souza, Jorge Estefano Santana de, Costa, Cecília Maria L. da, Cunha, Isabela Werneck, Barbosa, Paula Nicole Vieira P., Apezzato, Maria Lúcia P., Souza, Sandro José de, Carraro, Dirce Maria
Formato: article
Idioma:English
Publicado em: Wiley
Assuntos:
Cancer genetics
Liquid biopsy
Pediatric cancer
Wilms tumor
Endereço do item:https://repositorio.ufrn.br/jspui/handle/123456789/29712
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spelling ri-123456789-297122022-05-20T20:51:18Z Assessment of somatic mutations in urine and plasma of Wilms tumor patients Miguez, Ana Carolina Kerekes Barros, Bruna D. de Figueiredo Souza, Jorge Estefano Santana de Costa, Cecília Maria L. da Cunha, Isabela Werneck Barbosa, Paula Nicole Vieira P. Apezzato, Maria Lúcia P. Souza, Sandro José de Carraro, Dirce Maria Cancer genetics Liquid biopsy Pediatric cancer Wilms tumor Tumor DNA has been detected in body fluids of cancer patients. Somatic tumor mutations are being used as biomarkers in body fluids to monitor chemotherapy response as a minimally invasive tool. In this study, we evaluated the potential of tracking somatic mutations in free DNA of plasma and urine collected from Wilms tumor (WT) patients for monitoring treatment response. Wilms tumor is a pediatric renal tumor resulting from cell differentiation errors during nephrogenesis. Its mutational repertoire is not completely defined. Thus, for identifying somatic mutations from tumor tissue DNA, we screened matched tumor/leukocyte DNAs using either a panel containing 16 WT‐associated genes or whole‐exome sequencing (WES). The identified somatic tumor mutations were tracked in urine and plasma DNA collected before, during and after treatment. At least one somatic mutation was identified in five out of six WT tissue samples analyzed. Somatic mutations were detected in body fluids before treatment in all five patients (three patients in urine, three in plasma, and one in both body fluids). In all patients, a decrease of the variant allele fraction of somatic mutations was observed in body fluids during neoadjuvant chemotherapy. Interestingly, the persistence of somatic mutations in body fluids was in accordance with clinical parameters. For one patient who progressed to death, it persisted in high levels in serial body fluid samples during treatment. For three patients without disease progression, somatic mutations were not consistently detected in samples throughout monitoring. For one patient with bilateral disease, a somatic mutation was detected at low levels with no support of clinical manifestation. Our results demonstrated the potential of tracking somatic mutations in urine and plasma DNA as a minimally invasive tool for monitoring WT patients. Additional investigation is needed to check the clinical value of insistent somatic mutations in body fluids. 2020-07-23T16:24:46Z 2020-07-23T16:24:46Z 2020-06 article MIGUEZ, Ana Carolina Kerekes; BARROS, Bruna D. de Figueiredo; SOUZA, Jorge E. S.; COSTA, Cecília Maria L.; CUNHA, Isabela Werneck; BARBOSA, Paula Nicole Vieira P.; APEZZATO, Maria Lúcia P.; SOUZA, Sandro J.; CARRARO, Dirce Maria. Assessment of somatic mutations in urine and plasma of Wilms tumor patients. Cancer Medicine, [S.l.], p. 1-12, jun. 2020. http://dx.doi.org/10.1002/cam4.3236. Disponível em: https://onlinelibrary.wiley.com/doi/full/10.1002/cam4.3236. Acesso em: 23 jul. 2020. https://repositorio.ufrn.br/jspui/handle/123456789/29712 10.1002/cam4.3236 en Attribution 3.0 Brazil http://creativecommons.org/licenses/by/3.0/br/ Wiley
institution Repositório Institucional
collection RI - UFRN
language English
topic Cancer genetics
Liquid biopsy
Pediatric cancer
Wilms tumor
spellingShingle Cancer genetics
Liquid biopsy
Pediatric cancer
Wilms tumor
Miguez, Ana Carolina Kerekes
Barros, Bruna D. de Figueiredo
Souza, Jorge Estefano Santana de
Costa, Cecília Maria L. da
Cunha, Isabela Werneck
Barbosa, Paula Nicole Vieira P.
Apezzato, Maria Lúcia P.
Souza, Sandro José de
Carraro, Dirce Maria
Assessment of somatic mutations in urine and plasma of Wilms tumor patients
description Tumor DNA has been detected in body fluids of cancer patients. Somatic tumor mutations are being used as biomarkers in body fluids to monitor chemotherapy response as a minimally invasive tool. In this study, we evaluated the potential of tracking somatic mutations in free DNA of plasma and urine collected from Wilms tumor (WT) patients for monitoring treatment response. Wilms tumor is a pediatric renal tumor resulting from cell differentiation errors during nephrogenesis. Its mutational repertoire is not completely defined. Thus, for identifying somatic mutations from tumor tissue DNA, we screened matched tumor/leukocyte DNAs using either a panel containing 16 WT‐associated genes or whole‐exome sequencing (WES). The identified somatic tumor mutations were tracked in urine and plasma DNA collected before, during and after treatment. At least one somatic mutation was identified in five out of six WT tissue samples analyzed. Somatic mutations were detected in body fluids before treatment in all five patients (three patients in urine, three in plasma, and one in both body fluids). In all patients, a decrease of the variant allele fraction of somatic mutations was observed in body fluids during neoadjuvant chemotherapy. Interestingly, the persistence of somatic mutations in body fluids was in accordance with clinical parameters. For one patient who progressed to death, it persisted in high levels in serial body fluid samples during treatment. For three patients without disease progression, somatic mutations were not consistently detected in samples throughout monitoring. For one patient with bilateral disease, a somatic mutation was detected at low levels with no support of clinical manifestation. Our results demonstrated the potential of tracking somatic mutations in urine and plasma DNA as a minimally invasive tool for monitoring WT patients. Additional investigation is needed to check the clinical value of insistent somatic mutations in body fluids.
format article
author Miguez, Ana Carolina Kerekes
Barros, Bruna D. de Figueiredo
Souza, Jorge Estefano Santana de
Costa, Cecília Maria L. da
Cunha, Isabela Werneck
Barbosa, Paula Nicole Vieira P.
Apezzato, Maria Lúcia P.
Souza, Sandro José de
Carraro, Dirce Maria
author_facet Miguez, Ana Carolina Kerekes
Barros, Bruna D. de Figueiredo
Souza, Jorge Estefano Santana de
Costa, Cecília Maria L. da
Cunha, Isabela Werneck
Barbosa, Paula Nicole Vieira P.
Apezzato, Maria Lúcia P.
Souza, Sandro José de
Carraro, Dirce Maria
author_sort Miguez, Ana Carolina Kerekes
title Assessment of somatic mutations in urine and plasma of Wilms tumor patients
title_short Assessment of somatic mutations in urine and plasma of Wilms tumor patients
title_full Assessment of somatic mutations in urine and plasma of Wilms tumor patients
title_fullStr Assessment of somatic mutations in urine and plasma of Wilms tumor patients
title_full_unstemmed Assessment of somatic mutations in urine and plasma of Wilms tumor patients
title_sort assessment of somatic mutations in urine and plasma of wilms tumor patients
publisher Wiley
publishDate 2020
url https://repositorio.ufrn.br/jspui/handle/123456789/29712
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