A 76-year-old male with a metastatic spindle cell neoplasm presented a significant diagnostic challenge after histology, immunohistochemistry (IHC), and additional investigations failed to distinguish among multiple spindle cell sarcoma subtypes. Using comprehensive DNA and RNA molecular profiling with OncoIndx Multimodal, clinicians identified the hallmark FUS::CREB3L2 fusion and MUC4 overexpression, enabling a confident diagnosis of Low-Grade Fibromyxoid Sarcoma (LGFMS) while ruling out several competing sarcoma diagnoses.
This case highlights how integrated molecular profiling can resolve diagnostically complex cases, improve diagnostic confidence, and support more informed treatment decisions when conventional pathology is inconclusive. Download the full case study to explore the complete diagnostic journey, molecular findings, and their clinical significance.
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