Mutation Detection in Tumor-Derived Cell Free DNA Anticipates Progression in a Patient With Metastatic Colorectal Cancer

Frontiers in Oncology
Bruna D de Figueiredo BarrosDirce M Carraro

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. 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 sta...Continue Reading

References

Jul 15, 2003·Proceedings of the National Academy of Sciences of the United States of America·Devin DressmanBert Vogelstein
Aug 28, 2004·Clinical Chemistry·Johanna AtamaniukMathias M Müller
Nov 1, 2005·Proceedings of the National Academy of Sciences of the United States of America·Frank DiehlBert Vogelstein
Aug 2, 2008·Nature Medicine·Frank DiehlLuis A Diaz
Mar 21, 2009·Nature Reviews. Drug Discovery·Jerel C DavisPhilip Ma
Apr 8, 2010·Science Translational Medicine·Rebecca J LearyVictor E Velculescu
May 13, 2011·Nature Reviews. Cancer·Heidi SchwarzenbachKlaus Pantel
May 17, 2012·Cancer Research·Ian A PriorCarla Mattos
Jun 1, 2012·Science Translational Medicine·Tim ForshewNitzan Rosenfeld
Mar 15, 2013·The New England Journal of Medicine·Sarah-Jane DawsonNitzan Rosenfeld
Mar 30, 2013·Science·Bert VogelsteinKenneth W Kinzler
Jul 10, 2013·Nature Reviews. Clinical Oncology·Emily CrowleyAlberto Bardelli
Feb 21, 2014·Science Translational Medicine·Chetan BettegowdaLuis A Diaz
Oct 23, 2014·Annals of Oncology : Official Journal of the European Society for Medical Oncology·M Ignatiadis, S-J Dawson
Nov 27, 2014·The New England Journal of Medicine·Siddhartha JaiswalBenjamin L Ebert
Nov 27, 2014·The New England Journal of Medicine·Giulio GenoveseSteven A McCarroll
Mar 31, 2015·Annals of Translational Medicine·Niki KarachaliouRafael Rosell
Jun 24, 2015·International Journal of Molecular Sciences·Glenn Francis, Sandra Stein
Oct 16, 2015·Proceedings of the National Academy of Sciences of the United States of America·Iwijn De VlaminckStephen R Quake
Jan 8, 2017·BMC Cancer·Heidi M NamløsLeonardo A Meza-Zepeda

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Citations

Sep 25, 2019·JCO Clinical Cancer Informatics·Jia ZengFunda Meric-Bernstam
Apr 8, 2020·Analytica Chimica Acta·S CampuzanoJ M Pingarrón

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Methods Mentioned

BETA
biopsies
GTPase
biopsy

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