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Updated: Jan 22, 2026

Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors
Published on: May 17, 2024
Malignant Peripheral Nerve Sheath Tumor Arising Within Lumbar Spinal Plexiform Neurofibroma
Sérgio Ferreira Alves Júnior1, João Antônio Pessoa Corrêa1, Edson Marchiori1
1Department of Radiology, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Abstract:
A 41-year-old woman presented with a 16-year history of lumbar pain and right leg paresthesia. Twenty-four years previously, she had been diagnosed with neurofibromatosis type 1 syndrome. Magnetic resonance imaging showed a heterogeneous mass extending through widened lumbar neural foramina to the psoas muscles bilaterally, with a dumbbell-like appearance. Biopsy led to the diagnosis of a malignant peripheral nerve sheath tumor, an uncommon soft tissue sarcoma of neural origin that may occur in the context of neurofibromatosis type 1 syndrome. Given the aggressive behavior of these tumors, prompt and accurate diagnosis is critical to improve patient outcomes.
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