Early malignant change in a solitary neurofibroma not associated with neurofibromatosis: a case report

A 31-year old woman presented with a mass on the posterolateral aspect of the lower third of the right leg. The mass had undergone fine needle aspiration biopsy previously at another center and was diagnosed as neurofibroma. The patient was evaluated to determine the existence of neurofibromatosis but no positive findings were obtained, thus the mass appeared to be a solitary, local neurofibroma. The mass was totally excised with the involved nerve fascicles. The histopathological evaluation showed foci of malignant transformation of the solitary neurofibroma. The patient was reoperated on, and the surrounding tissues were widely excised together with the tibial nerve; the defect was grafted with the sural nerve. Clear margins were achieved. No complications ocurred and the patient was satisfied. She survived and had neither recurrence nor metastasis during 2 years follow-up. This patient is presented as a case report of a malignant peripheral nerve sheath tumor, specifically the focal malignant degeneration of a solitary neurofibroma.     

Mxi1 Mutations in Human Neurofibrosarcomas

Mxi1 is thought to negatively regulate Myc function and may therefore be a potential tumor suppressor gene. Little effort has yet been made to find alterations involving this gene in human solid tumors. We screened 31 human gastric cancers, 7 esophageal cancers, 85 bone and soft tissue tumors of various types, including 4 neurofibrosarcomas. We also examined 29 human tumor celllines consisting of 12 esophageal cancers, 7 glioma/glioblastomas and 10 others for Mxi1 mutations in exons 1, 2, 4 (HLH domain), 5 and 6. Polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) and subsequent sequencing revealed three distinct polymorphisms in the intron-exon boundary upstream from exon 6. We discovered a missense mutation, GCA to GTA (Ala 54 Val), in exon 2 in a neurofibrosarcoma patient (case 1), two missense mutations, AAA to CAA (Lys 118 Gln) and GAA to GGA (Glu 154 Gly) in exon 5 of another neurofibrosarcoma patient (case 2), and 3 amino acid substitutions, GTG to GCG (Val 179 Ala), GTT to GCT (Val 181 Ala) and TTC to CTC (Phe 186 Leu), in a third neurofibrosarcoma patient (case 3). In case 3, loss of heterozygosity was also demonstrated by informative (TTC)3/(TTC)2 polymorphism. Our data demonstrate that mutations occur in the Mxi1 gene in neurofibrosarcoma. Missense mutations in the functional domain of Mxi1 in these cases may be involved in the pathogenesis of neurofibrosarcoma.     

Malignant peripheral nerve sheath tumor of the back

A 65-year-old woman developed a tumor on the medial aspect of the lumbosacral spine. The diagnosis on biopsy was neurogenic sarcoma, T3N0M0. Despite wide surgical excision and regular follow-up, the patient developed a local recurrence requiring several supplementary operations before her death 4 years after the initial diagnosis. This case illustrates the highly aggressive and recurrent nature of these rare neurogenic tumors; they require early multidisciplinary management and regular careful follow-up. Received: 13 November 1999 / Accepted: 23 February 2000     

Extracranial neurogenic tumors of the head and neck

IntroductionPeripheric nerve tumors typically derive from Schwann cells of the peripheral nerve sheet. Since these tumors are uncommon, they should be considered in preoperative differential diagnosis.ObjectiveTo report the experience of a tertiary care department.MethodsForty-two patients with head and neck peripheral neurogenic tumors were retrospectively analyzed and evaluated from 1977 to 2013. The preoperative diagnosis was confirmed by biopsy or imaging study.ResultsThe mean age was 41.7 and 15 patients (36%) were male. The mean size was 5.5 cm and 26 (61%) were located laterally in the neck. Most tumors (39.9%) presented as an asymptomatic neck mass. Most (39.9%) were resected through a neck approach. Cranial nerves were the commonest site of origin.ConclusionsExtracranial neurogenic tumors presented with a mean size of 5.5 cm, were located laterally in the neck, normally had their origin from cranial nerves, and their resection approach is cervical.     

Sacral Neurofibrosarcoma — A Case Report

Neurofibrosarcoma is a rare tumour. A case of sacral neurofibrosarcoma is presented. The role of computed tomography in defining this lesion is discussed.     

Neurofibrosarcoma — a complication of von Recklinghausen's disease

In patients with von Recklinghausen's disease or neurofibromatosis, a symptom of grave prognosis is the sudden increase in size of a previously static or slow-growing mass. We report five cases where such an increase in size heralded transformation of a plexiform neurofibroma into a malignant neurofibrosarcoma. CT scanning is a useful investigation in such patients, though little in our current surgical armamentarium appears to alter the dismal prognosis in these cases. Offprint requests to: W. G. Cole     

Juxta-adrenal malignant schwannoma

A case of malignant schwannoma occurring in an 11-year-old boy is described. To our knowledge, this is the third case of malignant juxta-adrenal schwannoma reported in the literature. It was misdiagnosed at the onset of the disease as a post-traumatic renal hematoma. Angiography revealed that the tumor derived its blood supply from collateral vessels of the aorta, splenic, and left gastric arteries. An analysis of the diagnosis, clinical course, and prognostic factors of this rare tumor is performed.     

A rare case of a solitary peripheral nerve sheath sarcoma of the scalp

Summary Malignant peripheral nerve sheath tumors are rare and most often appear in the clinical setting of von Recklinghausen's neruofibromatosis. On rare occasions they are seen in patients lacking any of the overt stigmata of this systemic disease. We report on a case of a peripheral nerve sheath sarcoma (PNSS) on the scalp and the back of the neck of a 13-year-old female arising in a solitary benign neurofibroma with no evidence of systemic neurofibromatosis. The tumor was examined by ultrastructural and immunohistochemical techniques as well as by routine histopathology. It was defined as a peripheral nerve sheath sarcoma, fibrosarcomatous type, of poorly differentiated perineurial cell origin. The possible significance of histogenetic subclassification in terms of surgical management and the oncological approach as well as the prognosis is discussed.     

Scalp malignant peripheral nerve sheath tumor (MPNST) with bony involvement and new bone formation: case report

Malignant peripheral nerve sheath tumors (MPNSTs) are rare neoplasms, usually arising from somatic soft tissues or peripheral nerves. Primary MPNST of the scalp is extremely rare, with only a single case reported so far. Here, we describe an unusual case of scalp MPNST in a 50-year-old male. The tumor was associated with bony projection, intracranial extension and underlying bone destruction. The tumor was treated with complete surgical excision followed by adjuvant radiotherapy. Histologically, the tumor showed malignant spindle cells with focal S-100 positivity on immunohistochemistry and a diagnosis of MPNST was made. This case is being reported for its rarity and presence of associated bony projection, which to the best of our knowledge, has not been described before in soft tissue sarcomas.