A resected case of malignant peripheral nerve sheath tumor arising in the cervical esophagus

We report herein a case of malignant peripheral nerve sheath tumor (MPNST), an extremely rare, esophageal malignancy. A 67-year-old, female patient presented with a nodular lesion in the cervical esophagus which was detected on follow-up computed tomography (CT) after surgery for bilateral breast cancer and gastric cancer. Upper gastrointestinal endoscopy revealed a hemispheric, submucosal lesion in the cervicothoracic esophagus. Endoscopic ultrasound-guided fine needle aspiration cytology revealed spindle-shaped cells with nuclear atypia and positive staining for the S100 protein, a neurogenic marker. Based on clear CT findings of lesion growth over two years, MPNST was diagnosed, and treatment for sarcoma was begun. After one course of preoperative chemotherapy, open resection of the esophagus was performed, revealing a solid, white tumor with a maximum diameter of 1.8 cm. The tumor was histopathologically found to be located within the intrinsic muscularis propria. Based on this finding, low-grade MPNST with a schwannoma-like component at its margins was diagnosed. Approximately 50% of MPNST cases occur against a background of neurofibromatosis type 1 (NF1) while about 40% occur sporadically, and 10% occur after irradiation. The patient's history of radiotherapy for left breast cancer may have contributed to the development of the MPNST.