Yang Dehui, Zeng Xianghao, Lv Yipin, Liao Weilin, Tang Shanhong, Jiang Jianqin
Department of Digestive Diseases, General Hospital of Western Theater Command Chengdu 610083, Sichuan, China.
Department of Thoracic Surgery, General Hospital of Western Theater Command Chengdu 610083, Sichuan, China.
Int J Clin Exp Pathol. 2020 Aug 1;13(8):2158-2162. eCollection 2020.
Gardner syndrome (GS) is a form of familial adenomatous polyposis (FAP) and is characterized by colonic polyposis, osteomas, and soft-tissue tumors. Desmoid tumors (DT) are lesions of mesenchymal origin and are an extra-colonic manifestation of GS. Gardner-associated fibroma (GAF) is considered to be a benign soft-tissue lesion related to DT and FAP. Here we present a case of an 18-year-old female patient with a huge lump in her right thoracic cavity and another lump located in her left lumbar muscles who was diagnosed with GS through a colonoscopy and through gene mutation detection. The patient underwent a surgical resection of the right thoracic tumor. Three months later, the left waist lump underwent medical treatment with tamoxifen and celecoxib and was monitored using computed tomography (CT). Subsequently, colonoscopy screening was performed annually to prevent colorectal cancer. GAF is frequent in GS, and such a huge GAP in the thorax is very rare, with few cases reported in the literature. Patients with GS must be closely monitored, and clinical and imaging examinations must be performed to detect any signs of tumors.
加德纳综合征(GS)是家族性腺瘤性息肉病(FAP)的一种形式,其特征为结肠息肉病、骨瘤和软组织肿瘤。硬纤维瘤(DT)是间充质起源的病变,是GS的一种结肠外表现。加德纳相关纤维瘤(GAF)被认为是一种与DT和FAP相关的良性软组织病变。在此,我们报告一例18岁女性患者,其右胸腔有一个巨大肿块,左腰部肌肉有另一个肿块,通过结肠镜检查和基因突变检测被诊断为GS。患者接受了右胸肿瘤的手术切除。三个月后,对左腰部肿块采用他莫昔芬和塞来昔布进行药物治疗,并使用计算机断层扫描(CT)进行监测。随后,每年进行结肠镜检查以预防结直肠癌。GAF在GS中很常见,而如此巨大的胸部GAP非常罕见,文献报道的病例很少。GS患者必须密切监测,并且必须进行临床和影像学检查以检测任何肿瘤迹象。