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Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors
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Undifferentiated Pleomorphic Sarcoma Arising in a Fibrous Dysplasia Confirmed by GNAS Mutation Analysis: A Case
Miho Okuda1, Satoshi Kobayashi2, Toshifumi Gabata3
1Department of Radiology, Kanazawa University Hospital, Kanazawa, Japan.
Case:
We report the case of a 78-year-old woman with undifferentiated pleomorphic sarcoma (UPS) of the proximal femur arising in a previous site of fibrous dysplasia (i.e., a liposclerosing myxofibrous tumor) that had been treated 4 years earlier with curetted surgery. GNAS mutation was detected in both the previous benign lesion and the UPS.
Conclusion:
Genetic analysis is useful in demonstrating the origin of the tumor especially in fibrous dysplasia with severe degeneration that have undergone malignant transformation.
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