Gruner B A, DeNapoli T S, Andrews W, Tomlinson G, Bowman L, Weitman S D
Department of Pediatrics, University of Texas Health Science Center, San Antonio 78284-7810, USA.
J Pediatr Hematol Oncol. 1998 May-Jun;20(3):274-8. doi: 10.1097/00043426-199805000-00018.
Gardner syndrome, a variant of familial adenomatous polyposis, is characterized by colonic polyps that undergo malignant change and benign and malignant extracolonic lesions. Tumors frequently associated with Gardner syndrome include carcinoma of the ampulla of Vater, papillary carcinoma of the thyroid, and, in children, hepatoblastoma. The childhood malignancies often precede the appearance of other manifestations by several years.
Two patients are described. Gardner syndrome was diagnosed in a 15-year-old girl with fibrolamellar hepatocellular carcinoma after desmoid tumors and colonic polyposis developed. Classic hepatocellular carcinoma was also diagnosed in a 9 1/2-year-old boy with familial adenomatous polyposis.
In patient 1, the diagnosis of fibrolamellar hepatocellular carcinoma preceded the diagnosis of Gardner syndrome by almost 2 years. The diagnosis was confirmed by identifying a germline mutation of the adenomatous polyposis coli (APC) gene. This is the first patient reported with fibrolamellar hepatocellular carcinoma associated with Gardner syndrome. Patient 2 had a strong family history of familial adenomatous polyposis but no manifestations of Gardner syndrome. He was not tested for the APC mutation. The current literature and previously reported cases of hepatocellular carcinoma in patients with Gardner syndrome or familial adenomatous polyposis are reviewed.
Because hepatocellular carcinoma is uncommon in the pediatric and adolescent population, it is important to consider the possibility of Gardner syndrome or familial adenomatous polyposis in these patients.
加德纳综合征是家族性腺瘤性息肉病的一种变体，其特征为会发生恶变的结肠息肉以及良性和恶性的结肠外病变。与加德纳综合征经常相关的肿瘤包括 Vater 壶腹癌、甲状腺乳头状癌，以及在儿童中出现的肝母细胞瘤。儿童期恶性肿瘤通常比其他表现提前数年出现。
描述了两名患者。一名 15 岁女孩在发生硬纤维瘤和结肠息肉病后被诊断为加德纳综合征，同时患有纤维板层型肝细胞癌。一名 9.5 岁男孩患有家族性腺瘤性息肉病，被诊断为经典型肝细胞癌。
在患者 1 中，纤维板层型肝细胞癌的诊断比加德纳综合征的诊断早了近 2 年。通过鉴定腺瘤性息肉病 coli（APC）基因的种系突变确诊。这是首例报道的与加德纳综合征相关的纤维板层型肝细胞癌患者。患者 2 有家族性腺瘤性息肉病的强烈家族史，但无加德纳综合征表现。他未接受 APC 突变检测。对当前文献以及先前报道的加德纳综合征或家族性腺瘤性息肉病患者的肝细胞癌病例进行了综述。
由于肝细胞癌在儿童和青少年人群中并不常见，因此在这些患者中考虑加德纳综合征或家族性腺瘤性息肉病的可能性很重要。
