期刊
ADVANCES IN ANATOMIC PATHOLOGY
卷 25, 期 4, 页码 217-222出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/PAP.0000000000000190
关键词
osteosarcoma; hereditary syndromes; cancer predisposition
类别
资金
- NCI NIH HHS [P30 CA008748] Funding Source: Medline
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.
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