Kunugitani Ken, Ogiso Satoshi, Fujimoto Masakazu, Yoh Tomoaki, Shirai Hisaya, Okumura Shinya, Hirao Hirofumi, Ishii Takamichi, Yoshida Akihiko, Hatano Etsuro
Division of Hepato-Biliary-Pancreatic Surgery and Transplantation, Department of Surgery, Graduate School of Medicine, Kyoto University, 54 Shogo-in Kawahara-Cho, Sakyo-Ku, Kyoto, 606-8507, Japan.
Department of Diagnostic Pathology, Kyoto University Hospital, Kyoto, Japan.
Surg Case Rep. 2024 May 13;10(1):121. doi: 10.1186/s40792-024-01915-9.
Malignant perineurioma is a rare malignant counterpart of perineurioma derived from perineural cells. Resection is the primary option for the treatment of malignant perineuriomas; however, patients often develop recurrence after resection, and effective treatment for advanced or recurrent lesions needs to be established. This report describes a 51-year-old female with a rare malignant perineurioma in the retroperitoneum, which contributing valuable insights to the literature.
The patient presented with abdominal distension and the imaging work-up revealed a huge hemorrhagic tumor in the retroperitoneum and obstruction of inferior vena cava by the tumor. The patient underwent surgery retrieving the tumor combined with left hemiliver and retrohepatic vena cava, which confirmed the diagnosis of a malignant perineurioma based on histopathological and immunohistochemical examination. Cancer gene panel testing identified mutations in NF2. Radiotherapy was administered for peritoneal dissemination 2 months after surgery, and the patient died from disease progression 6 months after surgery.
This rare case highlights the challenges in managing retroperitoneal malignant perineuriomas. The aggressive characteristics and limited treatment options for advanced malignant perineuriomas underscore the need for understanding the pathogenesis and developing effective systemic therapies. The identification of an NF2 mutation provides significant insights into potential therapeutic target.
恶性神经束膜瘤是一种源自神经束膜细胞的罕见的神经束膜瘤恶性对应物。手术切除是治疗恶性神经束膜瘤的主要选择；然而，患者术后常出现复发，因此需要建立针对晚期或复发病变的有效治疗方法。本报告描述了一名51岁女性，其腹膜后出现罕见的恶性神经束膜瘤，为文献提供了有价值的见解。
患者因腹胀就诊，影像学检查显示腹膜后有一个巨大的出血性肿瘤，肿瘤压迫下腔静脉。患者接受了手术，切除肿瘤并连带左半肝和肝后下腔静脉，经组织病理学和免疫组化检查确诊为恶性神经束膜瘤。癌症基因检测发现NF2基因突变。术后2个月因腹膜播散接受放疗，患者术后6个月死于疾病进展。
这个罕见病例凸显了腹膜后恶性神经束膜瘤治疗中的挑战。晚期恶性神经束膜瘤的侵袭性特征和有限的治疗选择强调了理解其发病机制并开发有效全身治疗方法的必要性。NF2基因突变的鉴定为潜在治疗靶点提供了重要见解。
