Tumor Syndromes Predisposing to Osteosarcoma
Open accessAbstract
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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Patients with retinoblastoma and Rothmund-Thomson syndrome might present with osteosarcoma in their teens, whereas osteosarcoma associated with Werner syndrome or Li-Fraumeni syndrome presents in middle age.
“Patients with retinoblastoma and Rothmund-Thomson syndrome might present with osteosarcoma in their teens, and osteosarcoma associated with Werner syndrome or Li-Fraumeni syndrome presents in middle age 22,23 .”
From Osteosarcoma (2022) · cites this paper as [22]
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- Authors
- Hameed, M., & Mandelker, D.
- Affiliations
- Memorial Sloan Kettering Cancer Center (US)
- Venue
- Advances in Anatomic Pathology
- Published
- 2018-07
- Volume
- 25
- Issue
- 4
- Pages
- 217-222
- ISSN
- 1072-4109 (ISSN-L)
- PMC
- PMC6688172
- OpenAlex
- W2802848795
- Cited by
- 109
- References
- 71
- Citations by year
- 2026: 5 · 2025: 13 · 2024: 16 · 2023: 17 · 2022: 17 · 2021: 19 · 2020: 13 · 2019: 8 · 2013: 1
- FWCI
- 1.79
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Advances in Anatomic Pathology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Cancer Institute (P30CA008748)
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Sarcoma Diagnosis and Treatment
- Health Sciences › Medicine › Rheumatology › Bone Tumor Diagnosis and Treatments
- Health Sciences › Medicine › Epidemiology › Multiple and Secondary Primary Cancers
- Keywords
- osteosarcoma, hereditary cancer, genetic susceptibility, Li-Fraumeni syndrome, retinoblastoma, Rothmund-Thomson syndrome, Werner syndrome, Bloom syndrome, autosomal dominant inheritance, autosomal recessive inheritance, bone tumors, childhood cancer
- MeSH terms
- Bone Neoplasms, Humans, Neoplastic Syndromes, Hereditary, Osteosarcoma, Genetic Predisposition to Disease
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