Apolipoprotein D is down-regulated during malignant transformation of neurofibromas

Apolipoprotein D (apoD) expression was studied in nonneoplastic peripheral nerve, neurofibromas (NFs), and malignant peripheral nerve sheath tumors (MPNSTs) by quantitative polymerase chain reaction, in situ hybridization, and immunohistochemistry. Multiplex quantitative polymerase chain reaction for messenger RNA was performed on a series of formalin-fixed and paraffin-embedded specimens that included 9 MPNSTs, 12 NFs, and 4 normal peripheral nerves. The average apoD expression was 108-fold decreased (DeltaCt = -7.3) in the MPNSTs compared with the NFs (P < .05). ApoD expression levels were 3.0-fold elevated (DeltaCt = 1.7) in the NFs compared with nonneoplastic peripheral nerve (P < .05). In situ hybridization for apoD RNA was performed on a separate series of 10 cases in which each microscopic section included both MPNST and the NF from which it arose. These studies confirmed elevated apoD expression in NFs compared with MPNSTs and demonstrated that this expression was variable among individual cells within the NFs. Differential expression by immunohistochemistry could only be demonstrated in selected areas, most likely because apoD protein is a small molecule that is secreted out of the cell into the extracellular space and plasma. ApoD expression initially increases a small amount with the formation of NFs from nonneoplastic peripheral nerve and subsequently decreases markedly as NFs transform into MPNSTs. This expression pattern may serve as a marker for cell cycle inhibition during peripheral nerve tumorigenesis.     

Resolution of spinal epidural vascular pseudotumor following balloon occlusion of a postoperative vertebral arteriovenous fistula

Summary We describe a case of a vascular mass arising secondary to a postoperative vertebral arteriovenous fistula mimicking recurrent cervical neurofibroma on CT in a patient with neurofibromatosis. Angiography was required for diagnosis. The recurrent tumor resolved following balloon embolization of the fistula.     

CT在三叉神经瘤诊断中的价值

目的探讨CT在三叉神经瘤诊断中的价值。方法搜集经手术和病理学证实的三叉神经瘤12例,行CT平扫及静脉注射60％泛影葡胺或优维显增强扫描。结果12例中表现为特征性哑铃形3例,类哑铃形6例,类圆形3例。肿瘤呈混杂密度、均匀密度或等密度,均无钙化及水肿。结论CT对三叉神经瘤的定位、定性及岩骨和颅底骨的异常改变具有重要的诊断价值。     

结扎速血管闭合切割系统在巨大神经纤维瘤手术中的应用效果

目的：探讨结扎速血管闭合切割系统(LigaSure vessel sealing system, LVSS)在巨大神经纤维瘤手术中的应用效果。方法：选取2013年10月至2020年5月行巨大神经纤维瘤手术的患者22例纳入本研究。传统手术组12例采用常规缝扎电凝止血手术方式,LigaSure组10例采用LigaSure血管闭合切割的手术方式,对比两组患者切除瘤体大小、手术时间、术中出血量、术后引流量、术后拔管时间及术后并发症情况。结果：两组间患者的一般资料具有可比性。LigaSure组术中出血量、术后引流量、术后拔管时间均较传统手术组显著降低(P＜0.05)。两组间切除瘤体大小、手术时间及术前术后血红蛋白差值无统计学差异。传统手术组出现1例术后皮下积液,予再次引流后伤口愈合良好。结论：LigaSure在手术治疗巨大神经纤维瘤方面的应用安全有效,能显著地减少出血量,简化手术操作,缩短术后恢复时间,值得在临床上进一步推广。     

Soft tissue tumors of the urinary bladder, Part I: myofibroblastic proliferations, benign neoplasms, and tumors of uncertain malignant potential

Most bladder tumors arise from the urothelium. However, there are several uncommon but significant bladder lesions that must be differentiated from urothelial carcinomas. These include both benign and malignant spindle cell lesions. The first half of this 2-part review will describe benign myofibroblastic proliferations including inflammatory myofibroblastic tumor and postoperative spindle cell nodule; benign neoplasms including leiomyoma, hemangioma, neurofibroma, and schwannoma; and tumors of uncertain malignant potential including paraganglioma, granular cell tumor, and perivascular epithelioid cell tumor. Common clinical presentations, morphological characteristics, and immunohistochemical features are described to aid the practicing pathologist in the identification of these entities. This review also describes current theories as to the pathogenesis of inflammatory myofibroblastic tumor and postoperative spindle cell nodule and details the current molecular markers identifying several of these lesions.     

A childhood case of intrascrotal neurofibroma with a brief review of the literature

Solitary neurofibroma unassociated with neurofibromatosis type I (NFI) arising within the scrotum is an extremely rare benign tumor. There are 8 cases reported in the literature with only 1 that occurred in childhood. In the current report the authors describe an additional adolescent patient, the second case encountered in childhood and the ninth case reported in the literature, together with a review of the related articles.     

Genetics of neurofibromatosis 1-associated peripheral nerve sheath tumors

Neurofibromatosis 1, an inherited disorder that affects 1/3500 individuals worldwide, predisposes to the development of benign and malignant peripheral nerve sheath tumors. The disorder results from inactivation of one of the NFI genes. The second NFI gene is typically inactivated in Schwann cells during tumor formation. This article reviews the different types of genetic alterations in NFI in both constitutional and tumor tissues and genetic alterations of other genes that may affect tumorigenesis. These studies have provided insight into the genetic basis of both the variable expression of the disorder and of benign and malignant peripheral nerve sheath tumorigenesis.     

Neurofibroma of the external ear - a case report

Neurofibromas are relatively common tumours of the nervous system, but only a few cases involving the external ear have been reported. We are reporting here a case of a 20-year-old female with neurofibroma of the external ear. The primary complaint was cosmetic deformity. There was partial occlusion of the external auditory canal. The swelling was excised by postauricular approach. Surgery resulted in an excellent functional and cosmetic outcome.