Aneuploidy of chromosome 8 and mutation of circulating tumor cells predict pathologic complete response in the treatment of locally advanced rectal cancer

Wan,Jue‑Feng; Li,Xue‑Qin; Zhang,Jing; Yang,Li‑Feng; Zhu,Ji; Li,Gui‑Chao; Liang,Li‑Ping; Shen,Li‑Jun; Zhang,Hui; Li,Jing; Zhang,Yi‑Tong; Chen,Chang‑Yue; Zhang,Zhen

doi:10.3892/ol.2018.8831

Aneuploidy of chromosome 8 and mutation of circulating tumor cells predict pathologic complete response in the treatment of locally advanced rectal cancer

Authors:
- Jue‑Feng Wan
- Xue‑Qin Li
- Jing Zhang
- Li‑Feng Yang
- Ji Zhu
- Gui‑Chao Li
- Li‑Ping Liang
- Li‑Jun Shen
- Hui Zhang
- Jing Li
- Yi‑Tong Zhang
- Chang‑Yue Chen
- Zhen Zhang
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Affiliations: Department of Radiation Oncology, Fudan University Shanghai Cancer Center, Shanghai 200032, P.R. China, Department of Oncology, Affiliated Hospital of Jining Medical University, Jining, Shandong 272000, P.R. China, Department of Medical Research, Shanghai MajorMed Diagnostics Company, Shanghai 201321, P.R. China
Published online on: May 30, 2018 https://doi.org/10.3892/ol.2018.8831
Pages: 1863-1868

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Abstract

Identifying patients who may or may not achieve pathologic complete response (pathCR) allows for treatment with alternative approaches in the preoperative setting. The aim of the current study was to investigate whether aneuploidy of chromosome 8 and mutations of circulating tumor cells (CTCs) could predict the response of patients with rectal cancer to preoperative chemoradiotherapy. A total of 33 patients with locally advanced rectal cancer (cT3‑T4 and/or cN+) treated with neoadjuvant chemoradiotherapy between September 2014 and March 2015 were recruited. Blood samples were collected from 33 patients with pre‑chemoradiotherapy rectal cancer. It was demonstrated that ≥5 copies of chromosome 8 was associated with pathCR (univariate logistic regression, P=0.042). Of the 6 patients whose CTCs had <5 copies of chromosome 8, 3 achieved pathCR (3/6, 50%), and of the 27 patients whose CTCs had ≥5 copies of chromosome 8 obtained 3 pathCR (3/27, 11.1%; Chi‑square test, P=0.0255). Of the 33 patients with mutations assessed, 8 significant nonsynonymous mutations in CTCs were identified as associated with pathCR (Chi‑square test, P‑values range, 0.0004‑0.0298; mutations in ARID1A, HDAC1, APC, ERBB3, TP53, AMER1 and AR). These results suggest that ≥5 copies of chromosome 8 and 8 nonsynonymous mutations in ARID1A, HDAC1, APC, ERBB3, TP53, AMER1 AR in CTCs were associated with pathCR. This conclusion should be validated further in larger prospective studies and the long‑term follow‑up survival data of this study will also be reported in the future.

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