Using epidemiology and genomics to understand osteosarcoma etiology

Abstract

Osteosarcoma is a primary bone malignancy that typically occurs during adolescence but also has a second incidence peak in the elderly. It occurs most commonly in the long bones, although there is variability in location between age groups. The etiology of osteosarcoma is not well understood; it occurs at increased rates in individuals with Paget disease of bone, after therapeutic radiation, and in certain cancer predisposition syndromes. It also occurs more commonly in taller individuals, but a strong environmental component to osteosarcoma risk has not been identified. Several studies suggest that osteosarcoma may be associated with single nucleotide polymorphisms in genes important in growth and tumor suppression but the studies are limited by sample size. Herein, we review the epidemiology of osteosarcoma as well as its known and suspected risk factors in an effort to gain insight into its etiology.

Figure 1

Potential contributing factors in the etiology of osteosarcoma.

Figure 2

Incidence of osteosarcoma per million population. Data were derived from the Surveillance, Epidemiology, and End Results (SEER) program on the US population. Previously published by Mirabello et al. [2].

Figure 3

Five-year relative survival rates (RS) by anatomic site (AS) for individuals with osteosarcoma age 0–25 years and 60+ years in the US. The percent (%) of AS is the % of patients in that age group with osteosarcoma at that location. This figure was created using data from the SEER program in Mirabello et al. [2].