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Pleomorphic Sarcoma in a Patient with Osteopetrosis
Kevin McGill1, Daria Motamedi1, Nima Azimi2
1Department of Radiology, University of California, San Francisco, USA.
Journal of Radiology Case Reports
|October 22, 2020
Summary
This case report details a rare instance of pleomorphic sarcoma causing a humeral fracture in a woman with undiagnosed osteopetrosis. The aggressive cancer led to rapid metastatic disease despite surgical intervention.
Area of Science:
- Orthopedics
- Oncology
- Genetics
Background:
- Osteopetrosis is a rare inherited bone disorder affecting osteoclast function.
- It typically presents in childhood but can remain undiagnosed into adulthood.
Observation:
- A 53-year-old woman with undiagnosed osteopetrosis experienced a proximal humeral fracture.
- The fracture was caused by a pleomorphic sarcoma, a previously unreported association.
Findings:
- The pleomorphic sarcoma necessitated limb-sparing surgery.
- Despite treatment, the malignancy progressed rapidly with widespread metastatic disease.
Implications:
- This case highlights a novel complication of osteopetrosis.
- It underscores the importance of considering rare diagnoses in complex orthopedic and oncologic presentations.
- Further research into the interplay between bone disorders and sarcoma development is warranted.
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