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A 56-year-old woman was seen with the clinical features of collapse of the right lower lobe. Intrabronchial extension of a tumor was demonstrated endoscopically. Sleeve bilobectomy was performed, and a diagnosis of bronchial neurofibrosarcoma was confirmed by light and electron microscopic and immunohistochemical studies.
One of the most feared complications of neurofibromatosis type I (NF-I) is development of cancer, which is estimated to occur in about 5% of cases. The most common associated malignancy is the neurofibrosarcoma (NFS). HOwever, oral NFS in association with NF-I has rarely been reported. We report two cases of oral NFS arising in patients with NF-I. Both patients died of their tumors. Oral NFS arising in association with NF-I appears to have an extremely poor prognosis, as do these tumors at other sites of the body.
The first report of a neurofibrosarcoma arising within the spermatic cord is presented. The light and electron microscopic features are discussed.
We describe the cytogenetic and molecular genetic findings in a neurofibrosarcoma arising in a patient affected by neurofibromatosis type 1. Multiple chromosomal rearrangements were found but only a few of them were identified as clonal abnormalities, including a deletion of chromosome 22, which at the molecular level proved to be interstitial, mainly involving the 22q12 region. Loss of heterozygosity for markers D22S32 and MB was observed. These findings are in agreement with previous data which suggest a possible involvement of a gene located at 22q11-q13.1 during the neoplastic development of some neurofibromatosis type 1-associated tumors.
A retrospective review of all malignant hand tumors seen at the University of Michigan from 1950 to 1987 demonstrated six biopsy-proven cases of neurofibrosarcoma involving the upper extremity. There were four male and two female patients; average age at presentation was 37 years and ages ranged from 15 to 63 years. All patients had a history of von Recklinghausen's disease. Three patients were seen initially with painful enlarging masses, one with a painful mass with a neurological deficit, and two with painless enlarging masses. Three patients had radical excisions requiring upper extremity or forequarter amputation, and three patients received limited or no surgical treatment. Five patients died of metastases an average of 3 years after diagnosis. One patient remains alive 18 years after upper extremity amputation despite an early local recurrence. Early diagnosis and radical surgical excision offer the best chance of long-term survival from this highly lethal cancer.
Individuals with neurofibromatosis type 1 (NF1) have an increased risk of developing benign and malignant tumours. The NF1 gene is thought to be a tumour suppressor gene, yet no direct proof at the molecular level exists to support this hypothesis. Here we describe a neurofibrosarcoma from a patient with NF1 with loss of heterozygosity for all chromosome 17 polymorphisms tested. On the remaining chromosome 17 homologue, a 200 kilobase (kb) tumour specific deletion of NF1 was demonstrated. This is the first example of a homozygous inactivation of NF1 at the molecular level in a malignant tumour from an NF1 patient and the results strongly support the tumour suppressor gene hypothesis for this disease.
A young dog was presented with rapidly progressive, unilateral, exophthalmos. Ultrasound-guided fine-needle aspiration of the retrobulbar mass resulted in a diagnosis of fibrosarcoma. Magnetic resonance imagery revealed tumor invasion into the brain, and palliative therapy was elected. The dog was euthanized 4 weeks following diagnosis due to progressive neurological signs. The final diagnosis was neurofibrosarcoma involving the pons, brainstem, left orbit and left trigeminal nerve.
Case history of a woman who was operated on a lumbar disc. After a mild improvement again radicular pain and neurological deterioration occurred and a second operation on a recurrence was performed. Intraoperatively a malignant tumour (neurofibrosarcoma) within the root sheath reaching into the pelvis was found. In spite of laparatomy and radiotherapy this patient died five months later.
Between 1983 and 1987 three patients (mean age 31 years) with neurofibrosarcoma were seen among 22 with von Recklinghausen neurofibromatosis (NF-1) at the Department of Neurology, University of Berne, Switzerland. There was an average interval of 14 months between onset of symptoms and treatment. The first presenting sign was a rapidly enlarging mass or unusual persistent pain. The occurrence of either sign, in the known presence of NF-1, should lead to immediate neuroradiological investigation. The mean survival time of the three patients was 37 months. Only early diagnosis provides any chance of curative treatment.
Neoplasia and endocrine disorders are common complications of neurofibromatosis 1 (NF1--von Recklinghausen disease). We report here a case of NF1 in a 31-year-old woman presenting simultaneously with an abdominal neurofibrosarcoma and a pheochromocytoma. The prevalence of secondary neoplasia and endocrine tumors in NF1 is also discussed.
By using antibodies to type I, III, IV, V, and VI collagens and laminin, we examined the localization of interstitial collagens and basement membrane components with indirect immunofluorescence and immunoelectron microscopy (IEM). Furthermore, the morphological changes of these collagens in malignant transformation were investigated. In neurofibroma, IEM showed type I, III, and V collagens to be present diffusely on cross-striated collagen fibrils, whereas type VI collagen was present between the fibrils. Type IV collagen and laminin were observed to surround tumor cells. In neurofibrosarcoma, tumor collagen bundles that reacted with antibodies to type I, III, V, and VI collagens were irregularly arranged. Immunofluorescent deposits that reacted with anti-type IV collagen and anti-laminin antibodies were decreased in number, showing a thin and sparse arrangement.
An unusual case of neurofibrosarcoma of the cranio-orbital-maxillary region was resected by a combined neurosurgical and plastic surgical team. The resulting defect was reconstructed in one stage with a free rectus abdominis myocutaneous flap, obviating the need for subsequent prosthetic obturation of the maxillary defect. This reconstructive technique expedited the patient's convalescent period, allowing him to return to work 3 weeks following surgery. Wound healing was uneventful, and the cosmetic result was acceptable to the patient.
A case of neurofibrosarcoma (NFS) with neurofibromatosis was studied by light microscopic, ultrastructural, immunohistochemical and biochemical methods. Histologically, spindle-shaped tumor cells with atypical hyperchromatic nuclei were arranged in a fascicular or sheet-like fashion. Electron microscopic examination revealed discontinuous basement membrane-like structures. Immunohistochemical study revealed S100 protein alpha chains in tumor cells. A biochemical analysis showed large amounts of gangliosides (sialic acid 13.5 micrograms/g wet tissue weight) in tumors. GM3 and GD3 were the major components; these results were compatible with the NFS ganglioside patterns found in our previous study. Results confirmed the diagnosis of NFS and indicate that NFS clearly has some neuroectodermal characteristics and that Schwann cells may possibly be related to its origin.
A patient with neurofibromatosis developed neurofibrosarcoma (NFS). The tumour was composed of spindle-shaped cells with atypical nuclei arranged in a fascicular or sheet-like fashion. The tumour cells had discontinuous basement membrane-like structures and were positively stained with the monoclonal antibody against S100 protein alpha chain. Both the primary tumour and its cultured cells contained GM3 and GD3 as major gangliosides. The ganglioside pattern of the primary tumour corresponds to that of NFS in our previous study. In the cultured NFS cells, the relative amount ratio of GM3 to GD3 is almost reversed compared to that of the primary tumour. This reversion may reflect some environmental influence on the ganglioside metabolism of NFS.
Twenty-six years after radiotherapy to the spine for ankylosing spondylitis a patient developed a neurofibrosarcoma initially around the left sacroiliac joint. It is likely that this was a long-term complication of the radiotherapy.
A case of von Recklinghausen's disease with multiple neurofibromatosis is described in which death was caused by intracerebral haemorrhage due to metastatic angiosarcoma. The primary site was a peripheral nerve tumour which, on microscopic examination, showed both angiosarcoma and neurofibrosarcoma with transitional zones between the two. This is interpreted as another example of divergent differentiation in malignant nerve sheath tumours, and the case is compared with the two similar examples found in the literature.
A patient with Von Recklinghausen's disease who developed a retroperitoneal neurofibrosarcoma is described. The presenting clinical picture was one of hypochromic anaemia with a large mass palpable in the left hypochondrium. At operation the tumour was found to be invading the small intestine with resultant blood loss. The patient had presented 21 years before with unexplained severe iron deficiency anaemia.
Two cases of malignant tumours of the nerve sheaths are reported. In the first patient, who had von Recklinghausen's disease, light- and electron-microscopic investigations showed an undifferentiated mesenchymal tumour of the radial nerve with the property of producing collagen fibres, an aspect characteristic of sarcoma of the fibroblastic type. In the second case a pleomorphic cell sarcoma of the cranial nerves of the left cerebellopontine angle was present. The morphologic aspects of these tumours show them to be primary mesenchymal tumours of the nerve (neurofibrosarcoma, neurogenic sarcoma) originating in the fibroblastic-like elements of the nerve sheaths. The clinical and nosologic framework of this type of malignant tumour of the nerve sheaths is discussed.