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Osteosarcoma: Epidemiology, pathogenesis, clinical presentation, diagnosis, and histology

Authors
Lisa L Wang, MD
Mark C Gebhardt, MD
Nino Rainusso, MD
Section Editors
Alberto S Pappo, MD
Thomas F DeLaney, MD
Deputy Editor
Diane MF Savarese, MD

INTRODUCTION

Osteosarcomas are primary malignant tumors of bone that are characterized by the production of osteoid or immature bone by the malignant cells [1-3]. Osteosarcomas are uncommon tumors. Approximately 750 to 900 new cases are diagnosed each year in the United States, of which 400 arise in children and adolescents younger than 20 years of age [4,5]. Despite their rarity, osteosarcomas are the most common primary malignancy of bone in children and adolescents (figure 1), and the fifth most common malignancy among adolescents and young adults aged 15 to 19 [6,7].

The survival of patients with malignant bone sarcomas has improved dramatically with effective chemotherapy. Prior to the use of chemotherapy, 80 to 90 percent of patients with osteosarcoma developed metastatic disease despite achieving local tumor control and died of their disease. It was surmised (and subsequently demonstrated) that the majority of patients had subclinical metastatic disease that was present at the time of diagnosis, even in the absence of overt clinical metastases [8,9].

Chemotherapy can successfully eradicate these deposits if initiated at a time when disease burden is low. As a result, all patients with osteosarcoma (with the exception of patients with low grade parosteal osteosarcomas and some patients with periosteal osteosarcoma where the value of chemotherapy has been questioned) are treated with adjuvant chemotherapy, and most receive this treatment modality in the preoperative period. With multimodality therapy, at least two-thirds of patients with non-metastatic extremity osteosarcomas will be long-term survivors, up to 50 percent of those with limited pulmonary metastases may be cured of their disease, and long-term relapse-free survival can be expected in approximately 25 percent of all patients who present with more extensive metastatic disease.

This topic review will provide an overview of the epidemiology, clinical presentation, diagnosis, staging, and histopathology of patients with osteosarcoma. Diagnostic evaluation and biopsy techniques for primary bone tumors, an overview of treatment and outcomes, principles guiding surgical management of bone sarcomas, and chemotherapy in the treatment of osteosarcoma are discussed in detail separately. (See "Bone tumors: Diagnosis and biopsy techniques" and "Bone sarcomas: Preoperative evaluation, histologic classification, and principles of surgical management" and "Chemotherapy and radiation therapy in the management of osteosarcoma".)

EPIDEMIOLOGY

As noted previously, osteosarcoma is an uncommon tumor; it accounts for only 1 percent of all cancers diagnosed annually in the United States (US). In contrast to Ewing sarcoma, which is extremely rare in older adults, there is a bimodal age distribution of osteosarcoma incidence, with peaks in early adolescence and in adults over the age of 65 (figure 2) [10]. There are differences in tumor site and survival according to age at presentation.

                           

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