Mutation detection in tumor-derived cell free DNA anticipates progression in a patient with metastatic colorectal cancer

Barros, Bruna D. de Figueiredo; Kupper, Bruna E. C.; Aguiar Junior, Samuel; Mello, Celso A. L. de; Begnam, Maria D.; Chojniak, Rubens; Souza, Sandro José de; Torrezan, Giovana T.; Carraro, Dirce M.

Mutation detection in tumor-derived cell free DNA anticipates progression in a patient with metastatic colorectal cancer

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dc.contributor.author	Barros, Bruna D. de Figueiredo
dc.contributor.author	Kupper, Bruna E. C.
dc.contributor.author	Aguiar Junior, Samuel
dc.contributor.author	Mello, Celso A. L. de
dc.contributor.author	Begnam, Maria D.
dc.contributor.author	Chojniak, Rubens
dc.contributor.author	Souza, Sandro José de
dc.contributor.author	Torrezan, Giovana T.
dc.contributor.author	Carraro, Dirce M.
dc.date.accessioned	2018-10-02T14:29:55Z
dc.date.available	2018-10-02T14:29:55Z
dc.date.issued	2018-08-10
dc.description.resumo	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.	pt_BR
dc.identifier.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.	pt_BR
dc.identifier.doi	10.3389/fonc.2018.00306
dc.identifier.uri	https://repositorio.ufrn.br/jspui/handle/123456789/25924
dc.language	eng	pt_BR
dc.rights	Acesso Aberto	pt_BR
dc.subject	liquid biopsy	pt_BR
dc.subject	ctDNA	pt_BR
dc.subject	colorectal cancer	pt_BR
dc.subject	NGS	pt_BR
dc.subject	gene panel	pt_BR
dc.title	Mutation detection in tumor-derived cell free DNA anticipates progression in a patient with metastatic colorectal cancer	pt_BR
dc.type	article	pt_BR