Department of Pathology, Memorial Sloan Kettering Cancer Center, NewYork, NY.
Adv Anat Pathol. 2018 Jul;25(4):217-222. doi: 10.1097/PAP.0000000000000190.
Osteosarcoma (OS) is the most common primary bone tumor affecting predominantly adolescents and young adults. It accounts for about 5% of all childhood cancers. Although the majority of OSs are sporadic, a small percentage occur as a component of hereditary cancer syndromes. Early onset, bilateral, multifocal, and metachronous tumors suggest genetic predisposition. The inheritance patterns can be autosomal dominant or recessive. These syndromes predispose to a wide variety of mesenchymal and epithelial cancers with propensity for certain mutations being prevalent in specific cancer subtypes. Li-Fraumeni syndrome, retinoblastoma, Rothmund-Thompson syndrome (type 2), Werner syndrome, and Bloom syndrome, constitute the majority of the tumor syndromes predisposing to OS and will be the focus for this review.
骨肉瘤（OS）是最常见的原发性骨肿瘤，主要影响青少年和年轻人。它约占所有儿童癌症的 5%。尽管大多数 OS 是散发性的，但一小部分是遗传性癌症综合征的一部分。早期发病、双侧、多灶性和异时性肿瘤提示遗传易感性。遗传模式可以是常染色体显性或隐性的。这些综合征易患多种间充质和上皮性癌症，某些突变的倾向在特定的癌症亚型中更为普遍。Li-Fraumeni 综合征、视网膜母细胞瘤、Rothmund-Thompson 综合征（2 型）、Werner 综合征和 Bloom 综合征构成了大多数易患 OS 的肿瘤综合征，将成为本综述的重点。
