Department of Comprehensive Cancer Therapy, Shinshu University School of Medicine, Matsumoto, Japan.
Division of Hematology, Department of Internal Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
Thorac Cancer. 2017 Nov;8(6):720-723. doi: 10.1111/1759-7714.12498. Epub 2017 Sep 6.
Malignant peripheral nerve sheath tumor (MPNST) in the thorax is an extremely rare disease, and half of all cases of MPNST are associated with neurofibromatosis type I. Sporadic intrathoracic MPNST is difficult to diagnose and treat. Because of the rarity of intrathoracic MPNST, the optimal method of diagnosis and the efficacy of chemotherapy are unknown. Herein, we present a case of inoperable mediastinal MPNST, in which the diagnosis was immunohistochemically made by the loss of H3K27me3 expression in a transbronchial needle biopsy specimen. The patient showed a good response to doxorubicin plus ifosfamide chemotherapy. The present case highlights that MPNST should be included in the differential diagnosis of non-posterior mediastinum thoracic lesions, and that appropriate diagnosis and treatment for intrathoracic MPNST should be considered in patients with a thoracic mass.
胸部恶性外周神经鞘瘤（MPNST）极为罕见，半数 MPNST 与 1 型神经纤维瘤病相关。散发性胸内 MPNST 难以诊断和治疗。由于胸内 MPNST 罕见，其最佳诊断方法和化疗疗效尚不清楚。本文报道了一例不可手术的纵隔 MPNST 病例，该病例通过经支气管针吸活检标本中 H3K27me3 表达缺失的免疫组化进行诊断。该患者对多柔比星加异环磷酰胺化疗反应良好。本病例提示 MPNST 应纳入非后纵隔胸内病变的鉴别诊断，对于有胸内肿块的患者，应考虑进行胸内 MPNST 的适当诊断和治疗。
