Orthopedic Oncology Expert Opines on Delayed Diagnosis Leading to Amputation

    Orthopedic Oncology Expert WitnessThis case involves a middle aged female in Michigan who presented to her primary care doctor with pain in her right elbow. Her doctor provided her a referral to a cardiologist, who discovered that the pain was related to peripheral vascular disease that was limited to her elbow. She was later seen by a vascular surgeon who performed a procedure to remove plaque from her arterial walls, however she continued to experience pain. Some years later the patient presented for additional treatment, with complaints of pain and swelling in the joint. An MRI was performed, which revealed the presence of a mass located near the elbow joint. A subsequent biopsy of the mass revealed it to be a malignant desmoplastic spindle cell neoplasm. Eventually, the patient was forced to undergo an above-the-elbow amputation of her right arm.

    Question(s) For Expert Witness

    • 1. Are you familiar with desmoplastic spindle cell neoplasm?
    • 2. Have you previously treated similar cases?
    • 3. Do you believe that if this condition was recognized earlier, this outcome may have been avoided?

    Expert Witness Response E-017071

    The term “malignant desmoplastic spindle cell neoplasm” is somewhat vague and doesn’t identify the histologic subtype of malignancy. There is a malignant desmoplastic spindle cell variant of melanoma, as well as a desmoplastic small round cell tumor (sarcoma.) I presume this is the melanoma variant, as it’s the more common of the two very distinct tumors I’ve referenced, and also more likely one to occur in adults. It’s a highly rare variant of melanoma, which is a primary skin cancer. If the disease were isolated to the limb in either type, amputation would be an acceptable treatment. It would be important to know if staging was done and what the patient’s metastatic status was. My specialty is sarcoma and malignancies of the extremities, however I have treated melanoma variants, though never this specific subtype, which is treated very similarly to other melanoma subtypes. As far as earlier recognition – as noted, location and size of tumor are important, as would be the patient’s stage/metastatic status. It is also important to know what anatomic structures were accessed with prior vascular surgery, and the relationship of those structures to the anatomic location of the tumor. All of these points are relevant to the discussion of whether or not she would have been a limb-salvage candidate at an earlier recognition/presentation vs her ultimate situation.

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