A novel large deletion in the APC gene associated with Gardner syndrome in a Chinese family.

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

Revista espanola de enfermedades digestivas : organo oficial de la Sociedad Espanola de Patologia Digestiva 2021 Mar

filter terms:

Gardner syndrome is a hereditary disease characterized by familial adenomatous polyposis (FAP), accompanied by soft tissue tumors. a Chinese FAP family was enrolled and followed-up for three years. 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. 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.

Citation

Junfeng Zhou, Chengbo Liang, Duxin Qing, Yongjun Wang, Yuyong Tan, Xiaoliu Shi. A novel large deletion in the APC gene associated with Gardner syndrome in a Chinese family. Revista espanola de enfermedades digestivas : organo oficial de la Sociedad Espanola de Patologia Digestiva. 2021 Mar;113(3):179-182