At-Risk Populations for Osteosarcoma: The Syndromes and Beyond
Open accessAbstract
Osteosarcoma is the most common primary malignancy of bone. Most cases are sporadic without a known genetic or environmental cause. Heritable genetic predisposition syndromes are associated with a small percentage of osteosarcomas. Study of these rare disorders has provided insight into the molecular pathogenesis of osteosarcoma. Screening of at-risk families and surveillance of affected individuals for these syndromes may permit earlier diagnosis and more effective treatment of osteosarcoma in these populations. This paper reviews the genetic and clinical features of the known osteosarcoma predisposition syndromes.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
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 [23]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
The citation lists haven’t been fetched yet
References 77 · Cited by 90
Research works printed but not linked: 5
- [39]MacCarthy A Bayne AM Draper GJ Non-ocular tumours following retinoblastoma in Great Britain 1951 to 2004 British Journal of Ophthalmology 2009 93 9 1159 1162 19704040
- [42]Fletcher O Easton D Anderson K Gilham C Jay M Peto J Lifetime risks of common cancers among retinoblastoma survivors Journal of the National Cancer Institute 2004 96 5 357 363 14996857
- [43]MacCarthy A Bayne AM Draper GJ Non-ocular tumours following retinoblastoma in Great Britain 1951 to 2004 British Journal of Ophthalmology 2009 93 9 1159 1162 19704040
- [44]Shields CL Shields JA Retinoblastoma management: advances in enucleation, intravenous chemoreduction, and intra-arterial chemotherapy Current Opinion in Ophthalmology 2010 21 3 203 212 20224400
- [78]Villani A Tabori U Schiffman J Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study The Lancet Oncology 2011 12 6 559 567 21601526
- Authors
- Calvert, G. T., Randall, R. L., Jones, K. B., Cannon-Albright, L., Lessnick, S., & Schiffman, J. D.
- Affiliations
- University of Utah (US)
- Division of Genetic Epidemiology, Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah 84108, USA
- Corresponding author
- Calvert, George T.
- Venue
- Sarcoma
- Publisher
- Wiley
- Published
- 2012
- Volume
- 2012
- Pages
- 1-9
- ISSN
- 1357-714X (ISSN-L)
- 1369-1643
- PMC
- PMC3329649
- OpenAlex
- W1998012106
- Cited by
- 90
- References
- 77
- Citations by year
- 2026: 2 · 2025: 6 · 2024: 5 · 2023: 4 · 2022: 6 · 2021: 6 · 2020: 11 · 2019: 6 · 2018: 6 · 2017: 7 · 2016: 5 · 2015: 9 · 2014: 6 · 2013: 6 · 2012: 3
- FWCI
- 6.19
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Sarcoma (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- eScholarship (California Digital Library) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- Funders
- National Cancer Institute (K08CA138764, P30CA042014)
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Sarcoma Diagnosis and Treatment
- Health Sciences › Medicine › Rheumatology › Bone Tumor Diagnosis and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Keywords
- osteosarcoma, hereditary cancer, genetic susceptibility, vulnerable populations, family screening, surveillance (medicine), molecular pathogenesis, malignant bone tumors
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
