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Tumor Syndromes Predisposing to Osteosarcoma

Hameed, Meera, MD; Mandelker, Diana, MD, PhD

Advances In Anatomic Pathology: July 2018 - Volume 25 - Issue 4 - p 217–222
doi: 10.1097/PAP.0000000000000190
Review Articles

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.

Department of Pathology, Memorial Sloan Kettering Cancer Center, NewYork, NY

The authors have no funding or conflicts of interest to disclose.

Reprints: Meera Hameed, MD, Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Ave., NewYork, NY 10065 (

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