Giant cervicothoracic malignant peripheral nerve sheath tumor in neurofibromatosis type I: a case report of integrated management with multimodal guidance.

INTRODUCTION: Neurofibromatosis type 1 (NF1) is a genetic disorder predisposing patients to malignant peripheral nerve sheath tumors (MPNSTs), which represent a leading cause of mortality with poor therapeutic outcomes. Large MPNSTs with NF1 are extremely rare, and only a few clinical reports are published on this disease. We describe a case of giant cervicothoracic MPNST with major vessels encased and present the clinical profiles, radiological findings, operative management, and follow-up data, along with a literature review.

CASE STUDY: A 30-year-old male patient complained of an incidentally discovered painful mass in the right neck that had been progressively enlarging, accompanied by right hand weakness and intrinsic muscle atrophy. Contrast-enhanced MRI revealed a giant tumor closely related with the right brachial plexus and intervertebral foramina of C6-T2. The right subclavian artery and internal jugular vein were tightly encased by the tumor. A multidisciplinary approach incorporating advanced 3D imaging, preoperative vertebral artery embolization, and en bloc resection with vascular reconstruction achieved successful tumor removal while preserving neurological function. The patient received adjuvant radiotherapy and was followed up on the 6th and 12th months postoperatively. There were no complaints or signs of recurrence.

CONCLUSION: The successful long-term outcome provides a valuable template for managing similar high-risk cases, though long-term surveillance remains crucial due to the high recurrence potential of MPNSTs. This report contributes to the limited literature on radical surgical management of NF1-associated MPNSTs and emphasizes the critical balance between oncological control and functional preservation in these challenging cases.