Please use this identifier to cite or link to this item: https://repositorio.ufrn.br/jspui/handle/123456789/25924
Title: Mutation detection in tumor-derived cell free DNA anticipates progression in a patient with metastatic colorectal cancer
Authors: Barros, Bruna D. de Figueiredo
Kupper, Bruna E. C.
Aguiar Junior, Samuel
Mello, Celso A. L. de
Begnam, Maria D.
Chojniak, Rubens
Souza, Sandro J. de
Torrezan, Giovana T.
Carraro, Dirce M.
Keywords: liquid biopsy;ctDNA;colorectal cancer;NGS;gene panel
Issue Date: 10-Aug-2018
Citation: BARROS, B. D. F. et al. Mutation detection in tumor-derived cell free DNA anticipates progression in a patient with metastatic colorectal cancer. Front. Oncol., v. 8, p. 306, ago/2018.
Portuguese Abstract: Background: The observation of tumor-derived cell-free DNA (ctDNA) in plasma brought new expectations to monitor treatment response in cancer patients. Case presentation: In an exploratory case of a 57-year-old man diagnosed with metastatic sigmoid adenocarcinoma, we used a hotspot panel of cancer-associated gene mutations to identify tumor-specific mutations in the primary tumor and metastasis. Results: Five mutations were detected (KRAS, p.Gly12Val; TP53, p.Arg175His; RB1, p.Ile680Thr; ALK, p.Gly1184Glu; and ERBB2, p.Lys860Lys), of which three were detected in both tissue types (primary tumor and metastasis). All five mutations were monitored in the ctDNA of six serial plasma samples. Only KRAS and TP53 mutations were detected at a high frequency in the first plasma sample. After 1 month of chemotherapy the allele frequencies of both mutations fell below the detection limit. From the third month of systemic treatment onward, the allele frequencies of both mutations were detectable in plasma, displaying a continual increase thereafter. The remaining three mutations were not detected in plasma samples. Signs of disease progression in ctDNA during the treatment period were evident while computed tomography (CT) measurements suggested stable metastatic lesions throughout the treatment. Conclusions: Liquid biopsies revealed tumor heterogeneity and predicted tumor progression, demonstrating the potential of ctDNA analysis to be a sensitive and specific tool for monitoring treatment responsivity and for early identification of treatment resistance.
URI: https://repositorio.ufrn.br/jspui/handle/123456789/25924
Appears in Collections:ICe - Artigos publicados em periódicos

Files in This Item:
File Description SizeFormat 
SandroSouza_ICe_2018_Mutation detection.pdfSandroSouza_ICe_2018_Mutation detection559,96 kBAdobe PDFThumbnail
View/Open


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.