PDF(Pubmed)
Abstract：
BACKGROUND: 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.
METHODS: 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.
CONCLUSIONS: 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.
METHODS: 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.
CONCLUSIONS: 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.
摘要：
背景：恶性神经鞘瘤是来源于神经周细胞的神经鞘瘤的一种罕见的恶性对应物。切除是治疗恶性神经鞘瘤的主要选择；然而，患者经常在切除后复发，需要建立对晚期或复发性病变的有效治疗方法。这份报告描述了一名51岁的女性，患有腹膜后罕见的恶性神经鞘瘤，为文学贡献了宝贵的见解。
方法：患者出现腹胀，影像学检查显示腹膜后巨大出血性肿瘤，下腔静脉被肿瘤阻塞。患者接受了手术切除肿瘤，并伴有左半侧和肝后腔静脉，根据组织病理学和免疫组织化学检查证实了恶性神经鞘瘤的诊断。癌症基因组测试鉴定了NF2中的突变。术后2个月进行腹膜播散放疗，患者在手术后6个月死于疾病进展。
结论：这一罕见病例凸显了治疗腹膜后恶性神经鞘瘤的挑战。晚期恶性神经鞘瘤的侵袭性特征和有限的治疗选择强调了了解发病机理和开发有效的全身疗法的必要性。NF2突变的鉴定提供了对潜在治疗靶标的重要见解。
方法：患者出现腹胀，影像学检查显示腹膜后巨大出血性肿瘤，下腔静脉被肿瘤阻塞。患者接受了手术切除肿瘤，并伴有左半侧和肝后腔静脉，根据组织病理学和免疫组织化学检查证实了恶性神经鞘瘤的诊断。癌症基因组测试鉴定了NF2中的突变。术后2个月进行腹膜播散放疗，患者在手术后6个月死于疾病进展。
结论：这一罕见病例凸显了治疗腹膜后恶性神经鞘瘤的挑战。晚期恶性神经鞘瘤的侵袭性特征和有限的治疗选择强调了了解发病机理和开发有效的全身疗法的必要性。NF2突变的鉴定提供了对潜在治疗靶标的重要见解。
