Abstract
Circulating tumor DNA (ctDNA) is becoming an important biomarker in noninvasive diagnosis and monitoring of tumor dynamics. This study tested the feasibility of plasma ctDNA for the non-invasive analysis of tumor mutations in esophageal squamous cell carcinoma (ESCC) by sequencing of tumor, tumor-adjacent, and normal tissue, as well as pre-surgery and post-surgery plasma. Exome sequencing of eight patients identified between 29 and 134 somatic mutations in ESCCs, many of which were also determined in ctDNA. Comparison of pre-surgery and post-surgery plasma has shown that mutations had reduced frequency or disappeared after surgery treatment. We further evaluated the TruSight Cancer sequencing panel by using it to detect mutations in the plasma of three patients. Tumor mutations were only found in one of them. To design a sequencing panel with improved targeting, we identified significantly mutated genes by meta-analysis of 532 ESCC genomes. Our results confirmed the well-known driver genes and found several uncharacterized genes. The new panel consisted of 90 recurrent genes, which theoretically achieved 94% and 75% of sensitivity when detecting at least 1 and 2 mutant genes in ESCC patients, respectively. Our results demonstra...Continue Reading
References
Mar 3, 2004·Nature Reviews. Cancer·P Andrew FutrealMichael R Stratton
Apr 26, 2005·American Journal of Hematology·Hui-Hua HsiaoSheng-Fung Lin
Jan 30, 2010·Nature Methods·Gunes GundemNuria Lopez-Bigas
Feb 4, 2012·Genome Research·Daniel C KoboldtRichard K Wilson
Apr 14, 2012·Leukemia & Lymphoma·Yuxia YangXiaoling Zhu
Oct 16, 2012·Clinical Chemistry·K C Allen ChanY M D Lo
Feb 12, 2013·Nature Biotechnology·Kristian CibulskisGad Getz
Mar 29, 2014·Nature·Yongmei SongQimin Zhan
Apr 2, 2014·Nature Genetics·De-Chen LinH Phillip Koeffler
Apr 8, 2014·Nature Medicine·Aaron M NewmanMaximilian Diehn
Aug 26, 2014·Nature Genetics·Yi-Bo GaoJie He
Dec 30, 2014·The New England Journal of Medicine·Anil K Rustgi, Hashem B El-Serag
Feb 6, 2015·CA: a Cancer Journal for Clinicians·Lindsey A TorreAhmedin Jemal
Apr 4, 2015·American Journal of Human Genetics·Ling ZhangYongping Cui
Citations
Jan 10, 2017·Future Oncology·Kazuto HaradaJaffer A Ajani
Dec 26, 2018·Expert Review of Molecular Diagnostics·Wanli YangDaiming Fan
Oct 31, 2018·American Journal of Clinical Dermatology·Russell J DiefenbachHelen Rizos
Feb 6, 2020·Oncotarget·Rabih SaidApostolia M Tsimberidou
Aug 21, 2019·BMC Cancer·Pei MengJiang Gu
Oct 10, 2018·Scientific Reports·Helen PasternackHakan Alakus
Nov 9, 2016·International Journal of Oncology·Jiao LiangPeiyu Li
Sep 23, 2018·Journal of Gastroenterology·Kristina Magaard KoldbyTorben A Kruse
Jan 23, 2020·World Journal of Gastrointestinal Oncology·Tasuku Matsuoka, Masakazu Yashiro
May 1, 2020·World Journal of Gastroenterology : WJG·Ling-Yu ChuYi-Wei Xu
May 30, 2020·Cancers·Josephine Mun Yee KoMaria Li Lung
Aug 7, 2020·The British Journal of Surgery·B J van der WilkJ J B van Lanschot
Dec 29, 2016·World Journal of Gastroenterology : WJG·Roger YazbeckDavid I Watson
Dec 3, 2020·Cancer Communications·Zuyang YuanJie He
Jan 4, 2020·Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·Violaine RandrianDavid Tougeron
Jul 22, 2021·Diseases of the Esophagus : Official Journal of the International Society for Diseases of the Esophagus·Swathikan Chidambaram, Sheraz R Markar
Sep 25, 2021·Carcinogenesis·Ryosuke FujisawaSatoshi S Nishizuka
Dec 18, 2019·Oncology·Takaomi HagiYuichiro Doki
Mar 2, 2021·Digestive Diseases·Paulius JonaitisJuozas Kupcinskas