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Case 115

A 76-year-old female with a large subcutaneous thigh mass.


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  1. The tumor is sent for NGS testing and KMT2D p.R2099* with VAF of 42% and CCND1 amplification. What's your diagnosis?

    A: malignant triton tumor

    B: rhabdomyosarcoma

    C: spindle cell melanoma

    D: fibrosarcoma


Answer

The tumor is positive for both SOX10 and S100. H3K27 trimethylation (H3K27me3) stain retained and negative for BRAF. CCND1 amplification are associated with mucosal melanoma.



Case credit: UCSD Pathology

Author: Wangpan Jackson Shi, MD

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