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

• Junfeng Zhou ^[1] ; Chengbo Liang ^[1] ; Duxin Qing ^[1] ; Yongjun Wang ^[1] ; Yuyong Tan ^[1] ; Xiaoliu Shi ^[1]
  1. [1] Central South University

     Central South University

     China

     
• Localización: Revista Española de Enfermedades Digestivas, ISSN-e 2340-4167, ISSN 1130-0108, Vol. 113, Nº. 3, 2021, págs. 179-182
• Idioma: inglés
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• Resumen

  • 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 amplifi-cation (MLPA). An unexpected abdominal tumor grew two years after a subtotal colectomy of the proband. The immu-nohistochemistry study of the abdominal tumor showed SMA(focal+), calponin(+), β-catenin(nucleus+) and CD34(fo-cal+), 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 Chi-nese population associated with Gardner syndrome.