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Case Report: Extraskeletal osteosarcoma with preceding myositis ossificans.

Hiroki Imada1, Tomoaki Torigoe2, Yasuo Yazawa2

  • 1Department of Pathology, Saitama Medical University Saitama Medical Center, Kawagoe, Japan.

Frontiers in Oncology
|March 13, 2023
PubMed
Summary

This study reports a rare case of extraskeletal osteosarcoma (EO) in a young man, which was cytogenetically confirmed and showed features of preceding myositis ossificans (MO). The findings highlight a potential link between USP6 gene rearrangement and this combined condition.

Keywords:
USP6extraskeletal osteosarcomahigh-grade sarcomamalignant transformationmyositis ossificans

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Area of Science:

  • Oncology
  • Pathology
  • Genetics

Background:

  • Extraskeletal osteosarcoma (EO) is a rare soft tissue sarcoma characterized by malignant cells producing bone matrix.
  • Distinguishing EO from benign conditions like myositis ossificans (MO) can be challenging due to overlapping features, including benign osteoid production.

Observation:

  • A 21-year-old male presented with a left knee mass exhibiting features suspicious for both MO and malignancy.
  • Imaging revealed a mineralized mass with cystic changes.
  • Histopathology showed pleomorphic tumor cells with osteoid formation, alongside benign bone tissue and zonation in the periphery.

Findings:

  • Cytogenetic analysis confirmed extraskeletal osteosarcoma (EO) with a USP6 gene rearrangement.
  • The tumor exhibited histological features suggestive of preceding myositis ossificans (MO).
  • This case represents the first cytogenetically confirmed instance of EO combined with or preceding MO.

Implications:

  • The presence of USP6 gene rearrangement may be a key factor in the development of EO with preceding MO.
  • Understanding this association can aid in accurate diagnosis and potentially inform future therapeutic strategies.
  • Further research into the pathogenesis of EO and its relationship with MO is warranted.