Osteosarcoma is a primary bone malignancy with a particularly high incidence rate in children and adolescents relative to other age groups. The etiology of this often aggressive cancer is currently unknown, because complicated structural and numeric genomic rearrangements in cancer cells preclude understanding of tumour development. In addition, few consistent genetic changes that may indicate effective molecular therapeutic targets have been reported. However, high-resolution techniques continue to improve knowledge of distinct areas of the genome that are more commonly associated with osteosarcomas. Copy number gains at chromosomes 1p, 1q, 6p, 8q, and 17p as well as copy number losses at chromosomes 3q, 6q, 9, 10, 13, 17p, and 18q have been detected by numerous groups, but definitive oncogenes or tumour suppressor genes remain elusive with respect to many loci. In this paper, we examine studies of the genetics of osteosarcoma to comprehensively describe the heterogeneity and complexity of this cancer.

/pdf/the-genetics-of-osteosarcoma-4f1o6t7ct0.pdf

The Genetics of Osteosarcoma

Tumors and Tumor-Like Lesions of the Soft Tissues

We present an unusual case of primary osseous pleomorphic rhabdomyosarcoma with focal matrix formation mimicking osteosarcoma. The patient was a 21-year-old man who had suffered from pain and slight enlargement of his left calf for 2 months. A plain radiograph demonstrated a large, predominantly osteolytic mass in the region of the proximal fibula with features typical of malignant primary bone tumor. On open surgical biopsy, the tumor consisted of atypical cells, some of them presenting spindle morphology. Between them, there were bands of densely hyalinized matrix with osteoid appearance, but without definite lacunae or calcifications, and an osteosarcoma was diagnosed. Consequently, the tumor was removed. The postoperative tissue presented more pleomorphic cells with some definite rhabdomyoblasts. Desmin, actin, Myf4, and MyoD1 were positive in tumor cells, and a diagnosis of rhabdomyosarcoma was eventually made. Only few cases of primary pure bone rhabdomyosarcoma have been reported. Other bone tumors with rhabdomyosarcomatous differentiation have been described: dedifferentiated chondrosarcoma, fibrosarcoma, and osteosarcoma. Our case does not meet the criteria for sclerosing rhabdomyosarcoma, as matrix formation is focal and cells are spindle-shaped and pleomorphic. However, it is a further example of a diagnostic error in connection with primary osseous tumor.

Primary osseous rhabdomyosarcoma with focal matrix formation mimicking osteosarcoma.

In accordance with recent terminology, it is proposed that malignant mesenchymoma should be renamed 'composite sarcoma' and defined as 'a sarcoma composed of two or more cellular types each of which is sufficiently differentiated to permit clear recognition of its histogenetic type microscopically, immunohistochemically or ultrastructurally; excluding fibrosarcomatous and high-grade pleomorphic undifferentiated sarcomatous component, dedifferentiated sarcoma and the combination of osteosarcoma and chondrosarcoma which is regarded as a single histogenetic type'. Four cases of primary osseous composite sarcoma (POCS) were identified among 928 primary bone sarcomas. Their age ranged from 10 to 87 years, peak incidence in the second decade with equal sex distribution. Most presented with pain, commonest in the knee, affecting the metaphysis, appearing radiologically as expansile infiltrative osteolytic lesions with cortical erosion, periosteal reaction, variable extent of osteoblastic areas and soft tissue extension. All contained variable amounts of conventional high-grade osteosarcoma with or without chondrosarcoma component; the other constituents were liposarcoma, rhabdomyosarcoma and leiomyosarcoma. In all cases, Ki67 proliferative index was over 35%, there was no CDK4 and MDM2 amplification. The absence of low-grade component supported the de novo origin of POCS rather than derivation from divergent dedifferentiation. The two older patients with hitherto undescribed osteoleiomyosarcoma died 2 and 10 months after operation, whereas the two younger with osteorhabdomyosarcoma and osteoliposarcoma enjoyed disease-free survival at 16 and 6 years after chemotherapy despite the latter showing lung metastasis at presentation. Identification of the different lines of differentiation together with their approximate amounts and histological grades is therefore mandatory for POCS as multi-agent chemotherapy catered for each sarcoma component might offer hope for long-term disease-free survival.

Critical reappraisal of primary osseous composite sarcoma (malignant mesenchymoma) - analysis of four cases and literature review.

Extraskeletal osteosarcoma (ESOS), the soft tissue counterpart of primary skeletal osteosarcoma, is a rare tumor. Although rhabdomyosarcomatous differentiation may be seen in a variety of sarcomas, it has not been described in an ESOS. We report a case of ESOS, osteoblastic type, in the right upper extremity of a 50-year-old woman showing rhabdomyosarcomatous differentiation in the local recurrence and lung metastases, so-called malignant mesenchymoma of soft tissue. Rhabdomyoblasts, which were not observed in the initial specimen, were detected in the recurrent and metastatic tumors, which were obtained after the administration of chemotherapy with cisplatin and adriamycin. The patient died with a metastatic giant soft tissue mass occupying the inferior part of left hemithorax 17 months after the appearance of the initial tumor. We discuss the differential diagnosis of soft tissue tumors showing more than one differentiated tissue type and the factors that might play a role in the histogenesis of tumors with rhabdomyosarcomatous differentiation.

/pdf/extraskeletal-osteosarcoma-with-rhabdomyosarcomatous-3cjob4wnpm.pdf

Extraskeletal osteosarcoma with rhabdomyosarcomatous differentiation in local recurrence and lung metastases or so-called malignant mesenchymoma of soft tissue: A phenomenon related with chemotherapy?

Background Primary malignant mesenchymoma of the bone is a rare neoplasm consisting of two or more unrelated malignant mesenchymal components. The literature reports fewer than 20 cases, most of which were composed of osteosarcoma and liposarcoma. Observation We report an exceedingly rare case of primary malignant mesenchymoma of bone composed of rhabdomyosarcoma, osteosarcoma, and a minor chondrosarcoma component, arising in the right proximal humerus of a 15-year-old girl. The rhabdomyosarcomatous component was present in the initial biopsy and persisted in surgical specimen following chemotherapy. Conclusion Effect of chemotherapy is enigmatic since rhabdomyosarcomatous component could appear, persist or disappear after chemotherapy according to literature.

Osteosarcoma with rhabdomyosarcomatous component or so-called malignant mesenchymoma of bone.

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Osteosarcoma with rhabdomyosarcomatous component or so-called malignant mesenchymoma of bone.