Abstract
RATIONALE: Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas with a poor prognosis, particularly in metastatic cases. Traditional treatments have shown limited effectiveness, highlighting the need for innovative therapeutic approaches. This case report aims to emphasize the critical role of genomic profiling in identifying therapeutic targets, particularly immune checkpoint inhibitors, to improve treatment strategies for MPNST. PATIENT CONCERNS: An 82-year-old male presented with a long-standing history of MPNST, multiple recurrences, and a recent rapid enlargement of a mass in the right axillary region. The patient also reported a 10% weight loss over the last 6 months. DIAGNOSES: Comprehensive genomic profiling of the tumor revealed significant alterations, including CD274/PD-L1 amplification, CDKN2A loss, and TP53 mutation. These genetic findings were aligned with previous cases that responded favorably to immune checkpoint inhibitors. INTERVENTIONS: Despite the potential for targeted immunotherapy, the patient's economic constraints prevented the initiation of immune checkpoint inhibitor therapy. The patient underwent multiple surgical interventions, including an above-elbow amputation. OUTCOMES: The patient experienced severe wound bleeding and a significant decline in general condition, requiring intensive care unit support. Given the poor prognosis and high surgical risks, the patient's caregivers opted for hospice care. LESSONS: Genomic profiling identifies genetic alterations that could guide immune checkpoint inhibitor therapy, offering the promise of personalized treatment for MPNST patients. By highlighting the potential of genomic profiling, this case demonstrates the importance of integrating personalized immunotherapy into future treatment paradigms for MPNST.