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

Gardner syndrome is a hereditary disease characterized by familial adenomatous polyposis(FAP) accompanying with soft tissue tumors. A Chinese FAP family was enrolled and supervised for 3 years. A novel large germline fragment deletion(EX10_16DEL) of adenomatous polyposis coli(APC) gene was identified by multiplex ligation-dependent probe amplification (MLPA). An unexpected abdominal tumor grew 2 years after subtotal colectomy of the proband. The immunohistochemistry of abdominal tumor showed SMA(focal+), Calponin(+), β-catenin(nucleus+), CD34(focal+), CD117(-), which conformed to desmoid. When FAP related desmoid tumor occurred, 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.