A case of intrathoracic giant malignant peripheral nerve sheath tumor in neurofibromatosis type I (von Recklinghausen's disease)

The patient was a 32-year-old woman with neurofibromatosis I (von Recklinghausen's disease), with chief complaints of shortness of breath and back pain. CT and MRI revealed a giant mass occupying the right thoracic cavity almost completely. The mass compressed the mediastinal structure to the left and the liver downwards. She underwent surgery to alleviate respiratory and circulatory disorders caused by compression of the right lung and inferior vena cava due to the giant tumor. Intraoperatively, the tumor was found to have originated from the 5th intercostal nerve. The resected tumor was 20x17x15 cm in size and 2,300 g in weight. It was histologically diagnosed as a malignant peripheral nerve sheath tumor. Her postoperative course was uneventful. All indicators of respiratory function improved, and edema of the lower half of the body disappeared, accompanied by disappearance of shortness of breath. She was discharged 21 days after surgery. Seven months after surgery, however, a recurrent tumor was found in the right thoracic cavity. She died of rapid growth of recurrent tumor 3 months thereafter. This tumor often complicates neurofibromatosis I and has a high frequency of local recurrence and distant metastasis, resulting in poor prognosis. Neither an optimal extent of resection needed for complete resection of this tumor nor an optimal regimen of chemotherapy, radiotherapy, or other therapy for the tumor has yet been established. It is desirable to establish them in the near future.