12q amplification defines a subtype of extraskeletal osteosarcoma with good prognosis that is the soft tissue homologue of parosteal osteosarcoma

Extraskeletal osteosarcomas are rare tumors with neoplastic cells synthesizing bone, usually associated with poor prognosis. We present the case of a 40-year-old man with an extraskeletal osteosarcoma that was treated by surgery and adjuvant radiotherapy. Thirteen years after the diagnosis, he remai...

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Bibliographic Details
Published in:Cancer genetics 2012-06, Vol.205 (6), p.332-336
Main Authors: Kyriazoglou, Anastasios I, Vieira, Joana, Dimitriadis, Efthimios, Arnogiannaki, Niki, Teixeira, Manuel R, Pandis, Nikos
Format: Article
Language:English
Subjects:
12q amplification
Adult
Bone Neoplasms - genetics
Bone Neoplasms - radiotherapy
Bone Neoplasms - surgery
CGH
Chromosome Banding
Chromosomes, Human, Pair 12 - genetics
Comparative Genomic Hybridization
Cyclin-Dependent Kinase 4 - genetics
cytogenetics
Gene Amplification
Hematology, Oncology and Palliative Medicine
Humans
low-grade extraskeletal osteosarcoma
Male
MDM2 and CDK4 amplification
Medical Education
Osteosarcoma - genetics
Osteosarcoma - pathology
Osteosarcoma - radiotherapy
Osteosarcoma - surgery
Prognosis
Proto-Oncogene Proteins c-mdm2 - genetics
Radiotherapy, Adjuvant
Real-Time Polymerase Chain Reaction
Ring Chromosomes
Telomere - genetics
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Summary:Extraskeletal osteosarcomas are rare tumors with neoplastic cells synthesizing bone, usually associated with poor prognosis. We present the case of a 40-year-old man with an extraskeletal osteosarcoma that was treated by surgery and adjuvant radiotherapy. Thirteen years after the diagnosis, he remains disease-free, without any recurrences or metastases. Histopathological analysis favored the diagnosis of chondroblastic extraskeletal osteosarcoma grade II. G-banding, comparative genomic hybridization (CGH), and real-time PCR for the MDM2 and CDK4 genes were performed to describe the genetic profile of this tumor and revealed aberrations that are common findings of parosteal osteosarcomas. Ring chromosomes, giant marker chromosomes, and a telomeric association were found with G-banding. CGH revealed that 12q was amplified in the ring and giant markers identified by G-banding. Real-time PCR for MDM2 and CDK4 confirmed the amplification of these genes located in 12q. Our findings suggest that a variant of extraskeletal osteosarcoma, which is genotypically similar to parosteal osteosarcoma, exists and is associated with good prognosis.
ISSN:2210-7762
2210-7770
DOI:10.1016/j.cancergen.2012.04.011