Año 2021 / Volumen 113 / Número 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,

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 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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Recibido: 15/02/2020

Aceptado: 29/05/2020

Prepublicado: 20/11/2020

Publicado: 08/03/2021

Tiempo de revisión del artículo: 100 días

Tiempo de prepublicación: 279 días

Tiempo de edición del artículo: 387 días


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