Malignant triton tumor with thoracic region as the initial presentation: a case report

Background Malignant Triton Tumor (MTT) is a rare, highly aggressive peripheral nerve sheath tumor characterized by rhabdomyoblastic differentiation, seldom occurring primarily in the thoracic cavity. This report presents a rare case of MTT initially manifesting as chest pain, and reviews relevant literature to summarize its clinical features and therapeutic strategies. Methods A 23-year-old woman experienced chest pain for ten days and her condition worsened within 3 days. The patient had a known history of neurofibromatosis type 1 (NF1) and exhibited classic café-au-lait spots on physical examination. Diagnosis was confirmed via chest CTA, PET-CT, bronchoscopy, ultrasound, and histopathology. After surgical resection, the tumor recurred rapidly, prompting multiple treatments including chemotherapy, targeted therapy, and combination immunotherapy. Results Pathology after right lower lobectomy and chest wall resection confirmed MTT (S-100+/Desmin+/Myogenin+). Recurrence in the mediastinum was detected two months postoperatively. Disease stabilization was achieved using cadonilimab, apatinib, and ifosfamide/etoposide. Notably, the first application of single-cell RNA sequencing (scRNA-seq) in MTT, combined with the CopyKAT algorithm, distinguished malignant from non-malignant cells and revealed a heterogeneous tumor microenvironment composed of distinct functional cell populations, highlighting the tumor’s high degree of heterogeneity. Conclusion This case underscores the importance of considering MTT in young NF1 patients presenting with intrathoracic masses. An individualized, multimodal treatment approach may extend survival. scRNA-seq provides valuable insights into the molecular landscape of MTT and hold promise for guiding precision therapy in the future.