ArticleThe Journal of molecular diagnostics : JMD2001
Inheritance of osteosarcoma and Paget's disease of bone: a familial loss of heterozygosity study.
Article in The Journal of molecular diagnostics : JMD, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 39 citations in OpenAlex.
- Novel pyroptosis-associated genes signature for predicting the prognosis of sarcoma and validation.Bioscience reports · 2022Article
- Osteosarcoma mechanobiology and therapeutic targets.British journal of pharmacology · 2022Review
- Risk Factors for Development of Canine and Human Osteosarcoma: A Comparative Review.Veterinary sciences · 2019Review
- Impact of genetic variants of RFC1, DHFR and MTHFR in osteosarcoma patients treated with high-dose methotrexate.The pharmacogenomics journal · 2015Article
- The Current and Future Therapies for Human Osteosarcoma.Current cancer therapy reviews · 2013Article
- Article
- Osteosarcoma development and stem cell differentiation.Clinical orthopaedics and related research · 2008Review
- Degeneration of Paget's disease into sarcoma: clinical and therapeutic influencing factors.La Chirurgia degli organi di movimento · 2008Article
- Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family.Arthritis research & therapy · 2005Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pagetoid osteosarcoma is a complication of Paget's disease of bone. Sarcomatous transformation is most often seen in severe, long-standing Paget's disease. Familial clustering of Paget's disease has been described with apparent autosomal dominant inheritance with high penetrance by the sixth decade. Although definitive proof of the specific gene involved remains elusive, some researchers have shown loss of heterozygosity in a region of chromosome 18q in a relatively high percentage of studied patients affected with either Paget's disease alone, in Pagetoid osteosarcoma, and in uncomplicated osteosarcoma. Our patient was diagnosed with Pagetoid osteosarcoma and had a first-degree relative with history of the same. We hypothesized that our patient's tumor samples might contain a similar genetic abnormality. Our analysis of several polymorphic markers from the chromosome 18q21-22 region showed loss of maternally inherited alleles throughout the region. This finding is similar to those described previously and provides further evidence of a susceptibility region relating to this disease. This report describes a father and son, their young ages at diagnosis of Pagetoid sarcoma, the identical sites of disease involvement, and a loss of heterozygosity study illustrating the inheritance of the presumed defective gene.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.