Abstract
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.
References
Aug 1, 1990·Diseases of the Colon and Rectum·M L ArvanitisE McGannon
Jun 1, 1982·American Journal of Clinical Pathology·P HäyryA Sivula
Dec 10, 1993·Science·B RubinfeldP Polakis
Apr 19, 2003·Diseases of the Colon and Rectum·Simon B MiddletonRobin K S Phillips
Sep 26, 2006·Familial Cancer·N Julian H Sturt, Susan K Clark
Jun 15, 2007·European Journal of Human Genetics : EJHG·Maartje NielsenMarjan M Weiss
Jul 10, 2008·Annals of Surgical Oncology·Emma J GroenAndré P van Beek
Aug 16, 2008·Familial Cancer·Takeo IwamaHideyuki Ishida
Jan 1, 2005·Hereditary Cancer in Clinical Practice·Waltraut Friedl, Stefan Aretz
Mar 25, 2010·World Journal of Gastroenterology : WJG·Jian-Qiu ShengShi-Rong Li
Jun 10, 2010·Colorectal Disease : the Official Journal of the Association of Coloproctology of Great Britain and Ireland·A SinhaS K Clark
Oct 2, 2012·Histopathology·Sebastian HussHans-Ulrich Schildhaus
Apr 29, 2014·Familial Cancer·Maurizio Ponz de LeonAlfredo Cacciari
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Mar 10, 2015·Diseases of the Colon and Rectum·James ChurchMatthew Kalady
Dec 3, 2015·Gene·Shujie ZhangLingqian Wu
Dec 15, 2015·Journal of Surgical Oncology·Laura KoskenvuoAnna Lepistö
Jun 2, 2017·Journal of Surgical Oncology·Laura KoskenvuoAnna Lepistö
Jul 13, 2018·Journal of Gastrointestinal Oncology·Florencia NeffaPatricia Esperon