Year 2021 / Volume 113 / Number 3
Original
A novel large deletion in the APC gene associated with Gardner syndrome in a Chinese family

179-182

DOI: 10.17235/reed.2020.6974/2020

Junfeng Zhou, Chengbo Liang, Duxin Qing, Yongjun Wang, Yuyong Tan, Xiaoliu Shi,

Abstract
Introduction: Gardner syndrome is a hereditary disease characterized by familial adenomatous polyposis (FAP), accompanied by soft tissue tumors. Material and methods: a Chinese FAP family was enrolled and followed-up for three years. Results: a novel large germline fragment deletion (EX10_16DEL) of the adenomatous polyposis coli (APC) gene was identified by multiplex ligation-dependent probe amplification (MLPA). An unexpected abdominal tumor grew two years after a subtotal colectomy of the proband. The immunohistochemistry study of the abdominal tumor showed SMA(focal+), calponin(+), β-catenin(nucleus+) and CD34(focal+), CD117(-), which was consistent with a desmoid tumor. Conclusion: when a FAP related desmoid tumor appears, the possibility of Gardner syndrome should be considered. This is the first largest deletion of the APC gene in the Chinese population associated with Gardner syndrome.
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Zhou J, Liang C, Qing D, Wang Y, Tan Y, Shi X, et all. A novel large deletion in the APC gene associated with Gardner syndrome in a Chinese family. 6974/2020


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Publication history

Received: 15/02/2020

Accepted: 29/05/2020

Online First: 20/11/2020

Published: 08/03/2021

Article revision time: 100 days

Article Online First time: 279 days

Article editing time: 387 days


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