ArticleFrontiers in medicine2026
RBPMS::NTRK3-rearranged sacral malignant spindle cell tumor in neurofibromatosis diagnosed by RNA sequencing: a case report and literature review.
Article in Frontiers in medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Malignant spindle cell tumors arising in patients with neurofibromatosis are diagnostically challenging because malignant peripheral nerve sheath tumor (MPNST) and emerging NTRK-rearranged mesenchymal neoplasms may show overlapping clinical, histological, and immunophenotypic features. We report a 31-year-old man with a more than 20-year history of neurofibromatosis who presented with progressive lumbosacral pain and left lower-limb numbness. Imaging revealed a large cystic-solid sacral mass involving the S1-S2 region and extending through the sacral foramina into the pelvis. Core needle biopsy showed an intermediate-grade malignant spindle cell tumor with partial CD34 expression, strong pan-TRK positivity, increased p53 expression, and a Ki-67 labeling index up to 50% in hotspot areas. NTRK1 break-apart fluorescence
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