Cazorla Arnault, Viennet Gabriel, Uro-Coste Emmanuelle, Valmary-Degano Séverine
Department of Pathology, CHU Besançon, F-25000, France.
Department of Pathology, CHU Besançon, F-25000, France; Univ Franche-Comte, F-25000 Besançon, France.
J Craniomaxillofac Surg. 2014 Apr;42(3):262-4. doi: 10.1016/j.jcms.2013.05.012. Epub 2013 Jul 5.
Turcot's syndrome is a rare clinical syndrome, characterized by the association between familial adenomatous polyposis (FAP) and a primary central nervous system tumour. Gardner's syndrome is characterized by the association between FAP and several tumour types such as multiple osteomas, fibromas, epidermoid cysts and desmoid tumours. We report here the case of a twenty-six year-old woman with a history of both Turcot's and Gardner syndromes. She had a family history of adenomatous polyposis with a mutation in the APC (Adenomatous Polyposis Coli) gene. At the age of 26, she presented a mucoepidermoid carcinoma of the right parotid gland in which the MECT1-MAML2 fusion was showed. We discuss the possible addition of this latter cancer type in the definition of Gardner's syndrome.
Turcot综合征是一种罕见的临床综合征,其特征为家族性腺瘤性息肉病(FAP)与原发性中枢神经系统肿瘤相关联。Gardner综合征的特征是FAP与多种肿瘤类型相关,如多发性骨瘤、纤维瘤、表皮样囊肿和硬纤维瘤。我们在此报告一例患有Turcot综合征和Gardner综合征病史的26岁女性病例。她有腺瘤性息肉病家族史,且APC(腺瘤性息肉病 coli)基因发生突变。26岁时,她出现了右腮腺黏液表皮样癌,检测到MECT1-MAML2融合。我们讨论了在Gardner综合征的定义中可能增加这种后一种癌症类型的情况。