Huge intrathoracic malignant peripheral nerve sheath tumor in an adolescent with neurofibromatosis type 1

Abstract

Malignant peripheral nerve sheath tumor (MPNST) is a rare soft tissue malignancy usually found in patients with neurofibromatosis type 1 (NF1) with a poor outcome. Although MPNST can be found in any part of the body including head and neck or extremities, intrathoracic MPNST with or without NF1 is uncommon, especially in children or adolescents. Reported herein is a case of huge intrathoracic MPNST in a 16-year-old girl with NF1, and a brief review of the literature.

Figure 1

The patient's chest radiography shows a large thoracic mass with total collapse of right lung (a). Her chest CT scan (b) and spine MR imaging (c) also show a large intrathoracic hyperdense mass (white arrows) in the right chest, resulting in prominent scoliosis and cardiac deviation. Her ¹⁸F-FDG PET/CT scan showed highly increased FDG uptake (SUV_max⁡ = 6.9) in this mass, suggesting highly malignant tumor (d).

Figure 2

Macroscopic appearance of the cut surface of the resected tumor shows some hemorrhage and necrosis in the center. It was 22 × 17 × 9 cm in size (a). Microscopically, the tumor is composed of homogenous spindle cells (hematoxylin and eosin, ×100) (b). Immunohistochemical stains showing positivity to neuron-specific enolase (c), consistent with MPNST.