Gnoli Maria, Ponti Francesca, Sangiorgi Luca
Department of Medical Genetics and Skeletal Rare Diseases, Rizzoli Orthopedic Institute, Via Pupilli 1, Bologna 40136, Italy.
Department of Medical Genetics and Skeletal Rare Diseases, Rizzoli Orthopedic Institute, Via Pupilli 1, Bologna 40136, Italy.
Surg Pathol Clin. 2017 Sep;10(3):749-764. doi: 10.1016/j.path.2017.04.009.
Tumor syndromes, including bone neoplasias, are genetic predisposing conditions characterized by the development of a pattern of malignancies within a family at an early age of onset. Occurrence of bilateral, multifocal, or metachronous neoplasias and specific histopathologic findings suggest a genetic predisposition syndrome. Additional clinical features not related to the neoplasia can be a hallmark of specific genetic syndromes. Mostly, those diseases have an autosomal dominant pattern of inheritance with variable percentage of penetrance. Some syndromic disorders with an increased tumor risk may show an autosomal recessive transmission or are related to somatic mosaicism. Many genetic tumor syndromes are known. This update is specifically focused on syndromes predisposing to osteosarcoma and chondrosarcoma.
肿瘤综合征，包括骨肿瘤，是一种遗传易感性疾病，其特征是家族中在早年就出现恶性肿瘤模式。双侧、多灶性或异时性肿瘤的发生以及特定的组织病理学发现提示遗传易感性综合征。与肿瘤无关的其他临床特征可能是特定遗传综合征的标志。大多数情况下，这些疾病具有常染色体显性遗传模式，其外显率百分比各不相同。一些肿瘤风险增加的综合征性疾病可能表现为常染色体隐性遗传或与体细胞镶嵌现象有关。已知许多遗传性肿瘤综合征。本更新专门关注易患骨肉瘤和软骨肉瘤的综合征。
