Acute presentation of a neurogenic sarcoma in a patient with neurofibromatosis type 1: a pathological and molecular explanation

✓ Neurofibromatosis type 1 (NF1) is the most common familial cancer-predisposing syndrome in humans, for which the gene (NF1) and its gene product (neurofibromin) have been identified. The majority of tumors occurring in patients with NF1 are benign neurofibromas; sarcomatous transformation is uncommon and most often occurs within the larger plexiform neurofibromas. Such malignant transformation in a known neurofibroma is often heralded by either radiological evidence of growth or a progression in clinical symptoms (pain and neurological deficit). This progression in symptoms is usually gradual in onset, typically occurring over a period of months. In this report the authors document a neurogenic sarcoma presenting with rapid clinical and radiological growth. The pathological basis of this acute presentation was increased cellular proliferation, with invasion of blood vessels resulting in tumor infarction. The molecular basis of neurofibroma development in NF1 is loss of expression of the NF1 gene and its gene product, neurofibromin, resulting in elevated levels of Ras—guanosine triphosphate. Subsequent molecular events result in sarcomatous transformation.

Surgical outcome for intra- and extrapelvic femoral nerve lesions

✓ Seventy-eight traumatic neuropathies were seen in 94 patients with femoral nerve lesions; 54 of these were operated on because of persistent complete functional loss and/or pain. The most common mechanism of injury to the femoral nerve was iatrogenic due to inguinal herniorrhaphy, total hip replacement, intraabdominal vascular or gynecological operation, and, less commonly, appendectomy, lumbar sympathectomy, and laparoscopic procedures. Femoral nerve injuries also resulted from penetrating gunshot and stab wounds, laceration by glass, and stretch/contusive injuries associated with pelvic fractures. There were no signs of clinical or electrical recovery in 45 of 78 patients with traumatic nerve injuries. These and other partial injuries associated with pain were explored and evaluated by intraoperative nerve stimulation and recording of nerve action potentials (NAPs). Despite complete loss of nerve function preoperatively, 13 patients had recordable NAPs and underwent neurolysis; each recovered function to at least a Grade 3 level. Twenty-seven patients had sural graft repairs performed with graft lengths varying from 2.5 to 14 cm. Most patients had some nerve regeneration and regained function to Grade 3 to 4 levels by 2 years postoperatively. Four of five patients with suture repairs recovered to Grade 3 or better within 2 years postoperatively. Despite a proximal pelvic level for most of these injuries and, as a result, lengthy graft repairs, recovery of some useful function was the rule rather than the exception. Tumors involved the femoral nerve in 16 patients and included eight neurofibromas, four schwannomas, one neurogenic sarcoma, two ganglion cysts, and one leiomyosarcoma. All tumors were treated surgically and most were removed successfully.

Neurogenic sarcoma of the sinonasal tract

Five cases of a rare malignant sinonasal tumour of neurofibromatous nature are described. The term neurogenic sarcoma (or malignant peripheral nerve sheath tumour) is advocated instead of malignant schwannoma.The clinicopathological features of this tumour are described, and the differential diagnosis are discussed. The necessity of using immunohistochemistry in the diagnosis of sinonasal tumours of fibromatous nature is emphasized. The clinical management consists of radical surgery and adjuvant radiotherapy. Clinically there seems to be a high-grade and a low-grade type of sinonasal neurogenic sarcoma, however, this could not be distinguished histologically in the present series.