Clinicopathological and molecular characteristics of abdominal desmoid tumors in the Chinese population:
A single‑center report of 15 cases

Wang,Jiongyuan; Jia,Ning; Lin,Qiaowei; Huang,Yuan; Li,Jinglei; Jiang,Quan; Liu,Wenshuai; Xu,Jing; Hou,Yingyong; Liu,Ju; Li,Ming; Lu,Weiqi; Zhou,Yuhong; Zhang,Yong; Tong,Hanxing

doi:10.3892/ol.2019.11038

Clinicopathological and molecular characteristics of abdominal desmoid tumors in the Chinese population: A single‑center report of 15 cases

Authors:
- Jiongyuan Wang
- Ning Jia
- Qiaowei Lin
- Yuan Huang
- Jinglei Li
- Quan Jiang
- Wenshuai Liu
- Jing Xu
- Yingyong Hou
- Ju Liu
- Ming Li
- Weiqi Lu
- Yuhong Zhou
- Yong Zhang
- Hanxing Tong
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Affiliations: Department of General Surgery, Zhongshan Hospital, Fudan University, Shanghai 200032, P.R. China, Laboratory of Molecular Biology, Department of Biochemistry, An Hui Medical University, Hefei, Anhui 230032, P.R. China, Endoscopy Center, Zhongshan Hospital, Fudan University, Shanghai 200032, P.R. China, Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai 200032, P.R. China, Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China, Department of Oncology, Zhongshan Hospital, Fudan University, Shanghai 200032, P.R. China
Published online on: November 1, 2019 https://doi.org/10.3892/ol.2019.11038
Pages: 6443-6450
Copyright: © Wang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Desmoid tumors (DTs), derived from the abdomen, are a type of rare and aggressive borderline tumor exhibiting high recurrence and malignant potential. The aim of the present study was to investigate the clinicopathological and molecular characteristics of abdominal DT in a Chinese population and to provide clues for selecting the optimal treatment strategy for different types of abdominal DT. The clinicopathological data of 15 consecutive patients with DT was collected. Matched fresh‑frozen tumor tissues and peripheral blood samples were used to detect mutations of adenomatous polyposis coli gene (APC), β‑catenin (CTNNB1) and MutY DNA glycosylase (MUTYH) using Sanger sequencing. Pearson's test was conducted to analyze the differences between sporadic DT and familial adenomatous polyposis (FAP) associated with DT. Time to progress (TTP) and overall survival curves were estimated using the Kaplan‑Meier method and compared using the log‑rank test. A review of the patient clinicopathological characteristics revealed that FAP‑associated DT exhibited a higher rate of abdominal surgery history (P=0.011), with no significant differences in any other characteristics. Sequencing revealed that mutations in the APC, CTNNB1 and MUTYH genes were common in DT, and only one patient harbored no mutations in these genes. Survival analyses revealed that patients with FAP exhibited shorter TTP (P=0.030). Log‑rank test demonstrated a tendency towards shorter TTP in the cases where an R2 resection was performed (P=0.072) and a tendency towards poor prognosis in the cases of DT associated with FAP (P=0.087). In conclusion, Abdominal DTs were prone to occur in patients with FAP with a history of abdominal surgery. Mutations in the APC, CTNNB1 and MUTYH genes were detected in patients with DTs. To the best of our knowledge, this is the first study of abdominal DT occurrence in patients with MUTYH‑associated FAP. The prognosis of DT associated with FAP may be worse compared with that of sporadic DT.

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