作者: Mariette C. A. van Kouwen , Joost P. H. Drenth , Wim J. G. Oyen , Joyce H. F. M. de Bruin , Marjolijn J. Ligtenberg
DOI: 10.1158/1078-0432.CCR-04-0599
关键词: Gene mutation 、 Pathology 、 Medicine 、 Stomach 、 Asymptomatic 、 Positron emission tomography 、 Outpatient clinic 、 Carcinoma 、 Cancer 、 Hereditary diffuse gastric cancer
摘要: Purpose: Autosomal dominant hereditary diffuse gastric cancer (HDGC) is caused by germ-line E-cadherin ( CDH1 ) gene mutations. Early detection of in carriers difficult because HDGC escapes endoscopic detection. We hypothesized that the glucose metabolism enhanced and this can be detected with [18F]fluoro-2-deoxy-d-glucose positron emission tomography (FDG-PET). Experimental Design Results: An asymptomatic twenty-eight year-old female was seen at our outpatient clinic a request for screening on HDGC. Her father younger sister died cancer, ages 52 27, respectively. Mutational analysis patient demonstrated novel heterozygous splice-site mutation exon 8 (1135delACGGTAATinsTTAGA). Upper gastrointestinal endoscopies revealed no macroscopic abnormalities, but one 40 random biopsy specimens showed well-differentiated signet-cell carcinoma. A FDG-PET scan two spots FDG accumulation, located proximal part stomach second region pylorus. total gastrectomy performed microscopic examination focal localization intramucosal adenocarcinoma type cardiac antrum area. Most notably, accumulation matched carcinoma. Conclusions: present an from family carrying whom scanning facilitated early This calls further investigation role as modality