At-Risk Populations for Osteosarcoma: The Syndromes and Beyond

Abstract

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.

Role of osteopontin in osteosarcoma

“…Heritable genetic predisposition syndromes caused by mutations in DNA repair pathways have been provided fundamental insights into the pathogenesis of OS. The known OS predisposition syndromes include Li-Fraumeni syndrome (mutation of TP53 gene), hereditary retinoblastoma (mutation of RB gene on chromosome 13q14), Rothmund-Thomson syndrome (mutation of RECQL4 gene), Werner syndrome (mutation of WRN gene), Bloom syndrome (mutation of BLM gene) and Diamond Blackfan anemia (the mutations in ribosomal genes like RPS19, RPS24 and RPS17) [5,6]. The possible treatment of choice in OS is complete radical surgery in combination with multi-agent chemotherapeutic regimens like cisplatin, doxorubicin and high-dose methotrexate.…”

Osteogenic Sarcoma: A 21st Century Review

“…These chromosomal changes are said to encode the tumor suppressors and oncogenes (18). BOS is associated with some genetic syndromes, that are listed in Figure 1 (22). In this figure, chromosomal loci and some components of the cell-cycle pathway and regulators in the development of this tumor are noted.…”

Classical osteosarcoma in children and adolescents

“…Считается, что развивается из мезен-химальной стволовой клетки с минимальной остеобла-стической дифференцировкой, однако «cell of origin» остается неизвестной [9]. Наблюдается чаще среди раз-личных генетически обусловленных синдромов: LiFraumeni, врожденной ретинобластоме, RothmundThomson, анемии Diamond Blackfan, синдроме Bloom, Werner и других [10].…”