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PubMed1981

[Neurogenic sarcoma of the head and neck with contact to the skull base (author's transl)].

The neurogenic sarcoma is a neoplasm found seldom. It descends from the sheaths of peripheric nerves. If this tumor develops from a solitary or multiple neurofibroma, it might also be called a neurofibrosarcoma. All other synonyms, especially that of the malignant schwannoma, should better be abandoned for histogenetic reasons. Today the classification of all tumors of the peripheral nervous system is based on a suggestion of the WHO from 1969. The tabular summary of the literature shows that only a little more than a hundred cases of neurogenic sarcoma of the head and neck were reported during the last 50 years. Differential diagnosis of this malignant tumor includes nearly all other malignant neoplasms of soft tissue, sometimes even anaplastic carcinoma. Histopathology, including electron microscopy, is described in general and also in detail with regard to three cases. Three forms of micro-morphological variants are dealt with, too. For diagnosis histological examination will be absolutely successful only in cases of neurofibromatosis or in cases where the nerve from which the tumor originates may be identified. Otherwise, conventional and computerized X-ray tomography may be helpful. Finally, some therapeutic and prognostic principles are discussed.

Adolescent↗

PubMed1995

Lack of NF1 expression in a sporadic schwannoma from a patient without neurofibromatosis.

The neurofibromatosis type 1 (NF1) gene encodes a tumor suppressor protein, neurofibromin, which is expressed at high levels in Schwann cells and other adult tissues. Loss of NF1 expression has been reported in Schwann cell tumors (neurofibrosarcomas) from patients with NF1 and its loss is associated with increased proliferation of these cells. In this report, we describe downregulation of NF1 expression in a single spinal schwannoma from an individual without clinical features of neurofibromatosis type 1 or 2. Barely detectable expression of NF1 RNA was found in this tumor by in situ hybridization using an NF1-specific riboprobe as well as by Northern blot and reverse-transcribed (RT)-PCR analysis. In Schwann cells cultured from this schwannoma, abundant expression of NF1 RNA could be detected by Northern blot and RT-PCR analysis. These results suggest that, in some tumors, expression of NF1 may be downregulated by factors produced within the tumor and may represent a novel mechanism for inactivating these growth suppressing genes and allowing for increased cell proliferation in tumors.

Adult↗

PubMed1994

Characterization of Schwann cells from normal nerves and from neurofibromas in the bicolour damselfish.

Schwann cells are an important component of neurofibromas, one of the primary lesions encountered in neurofibromatosis type 1 in man. A central question in studies of neurofibromatosis type 1 has been whether the Schwann cells present in these tumours are intrinsically abnormal or exhibit abnormal phenotypes in response to stimuli from other cell types in these tumours. Damselfish neurofibromatosis is a naturally occurring disease in a species of marine fish, the bicolour damselfish, that is being developed as an animal model of neurofibromatosis type 1. Affected fish exhibit multiple neurofibromas and neurofibrosarcomas (malignant schwannomas). The present study compares the morphology, antigen expression and proliferative capacity in vitro of Schwann cells derived from peripheral nerves of normal, healthy fish with cells isolated from both spontaneously occurring and experimentally induced neurofibromas. Schwann cells from normal nerves expressed S100 antigens but not fibronectin or glial fibrillary acidic protein antigens and were similar in morphology and proliferative capacity to Schwann cells isolated from mammalian peripheral nerves. Tumour-derived cultures contained variable proportions (27-79%) of S100-positive cells that were identified as Schwann cells based on this feature. These tumour-derived Schwann cells exhibited a different morphology than normal Schwann cells, usually exhibited an increased reactivity to anti-S100 antibodies and were able to proliferate in vitro without added mitogens. Repeated subculturing of tumour-derived cultures led to the production of six cell lines all of which were composed exclusively of Schwann cells as indicated by S100 expression. These findings show that Schwann cells are an important component of tumours in Damselfish neurofibromatosis and that these cells are morphologically and physiologically altered in this disease. Observations of cell lines also suggest that tumour-derived Schwann cells are intrinsically abnormal and that this phenotype is not a result of stimuli from other cell types in the tumours.

Animals↗

PubMed1998

Lymphoepithelioma-like carcinoma of the colon: report of a case with histologic, immunohistochemical, and molecular studies for Epstein-Barr virus.

We report a case of lymphoepithelioma-like carcinoma of the colon in a 62-year-old Hispanic male with multiple other tumors, including thyroid, breast, pharyngeal, and prostate carcinomas; a neurofibrosarcoma; and a meningioma. The association with Epstein-Barr virus infection and colonic lymphoepithelioma-like carcinoma was studied using immunohistochemical and polymerase chain reaction techniques.

Blotting, Southern↗

PubMed1998

Neurofibromatosis of the colon and rectum combined with other manifestations of von Recklinghausen's disease: report of a case.

Gastrointestinal involvement of neurofibromatosis occurs in as many as 25 percent of cases. Neurofibroma occurs most frequently in the stomach and jejunum, but the colon may also be involved. This condition is characterized by multiple submucosal neurofibromas of the gastrointestinal tract and café au lait pigmentation, bony abnormalities, and neurofibromas of both central and peripheral nerves. The lesions consist of an overgrowth of neural tissue along with other mesenchymal elements. Gastrointestinal neurofibromas may cause occult bleeding, luminal obstruction, or intussusception. Malignant transformation into neurofibrosarcoma is rare. We encountered a case of neurofibromatosis diffusely involving the left colon, the sigmoid colon, and the rectum, which resulted in herniation of the mass through the anus, with intestinal obstruction. The patient also showed skin lesions of the neurofibromatosis. We report this case with a review of the literature.

Colectomy↗

PubMedDate not supplied

Embolization of paraspinal masses.

Arterial embolization is a method of palliative therapy for both primary and metastatic tumors. This treatment is frequently used in the liver and kidney, but has not been previously extended to paraspinal masses. Five patients with recurrent renal cell carcinoma or neurofibrosarcoma underwent palliative embolization for pain or mass effect. All had relief of pain after embolization. Four patients showed change in the mass on follow-up computed tomography scan with one demonstrating tumor shrinkage. Arterial embolization can be an effective method for palliation of pain and mass effect caused by paraspinal masses.

Adult↗

PubMedDate not supplied

Carcinogenesis in vitro. II. Chemical transformation of diploid human cell cultures: A rare event.

Seventy-five diploid human cell s-rains were subjected to a number of chemical carcinogens, including urethane and polycyclic hydrocarbons. In most cases, no visible morphological alterations were induced by any treatment. Development of morphologically altered foci was noticed in urethane-treated cultures derived from a patient with von Recklinghausen's disease. This disease is transmitted by an autosomal dominant gene, and has a high rate of spontaneous transformation of neurofibromas to neurofibrosarcomas. Attempts to isolate continuous cell lines from altered foci were successful in only two of several attempts. These continuous cell lines demonstrate altered morphology, loss of contact inhibition, accelerated growth rate, and have attained over 240 generations in a period of 140 weeks. Untreated control cultures became terminal by the 20th generation. Giemsa banding procedures showed that the chromosomal complement consisted of heteroploid human chromosomes. A second diploid cell strain derived from the above patient's sibling, also suffering from von Recklinghausen's disease, likewise was morphologically altered by urethane. Chemical transformation of human cells is difficult to induce; however, selection of genetically predisposed cells and prolonged, intermittent, and repeated chemical treatment may be important factors in achieving transformation.

Adult↗

PubMed2005

[Oncoplastic surgery for thoracic wall tumours].

INTRODUCTION: Surgical treatment of tumours of the chest wall (primary or metastatic) requires special skills by the thoracic and the plastic surgeons, from the functional as well as the aesthetic perspective (oncoplastic surgery), when the treatment requires surgical reconstruction. MATERIAL AND METHODS: We present a series of 14 patients who needed extensive resection of the thoracic wall (external and/or 3 or more ribs) with disease-free margins and reconstruction with prostheses (7 with polytetrafluoroethylene [PTFE(R)] and 7 with the Sandwich Marlex-Methyl Metacrylate) technique with additional covering with muscle-skin flaps (6 pectoral, 5 recto-anterior, 3 dorsal) pedicled during the same surgical intervention. RESULTS: The aetiology of the extirpated tumours, following pathology assessment, were: 4 chondrosarcoma, 3 metastatic sternum, 2 breast cancer relapse, 1 desmoid tumour, 1 neurofibrosarcoma, 1 rhabdomiosarcoma, 1 malignant schwannoma and 1 radiation induced sarcoma. One patient died from complications and another 4 from disease progression before the conclusion of the study follow-up (3-22 months). CONCLUSIONS: Extensive resection of tumours of the chest wall with reconstruction using prostheses and muscle-skin flaps is a safe method that can be performed in the same surgical intervention period when combining the skills of the thoracic surgeon with that of the plastic surgeon.

Adult↗

PubMed2000

Allelic loss at the neurofibromatosis type 1 (NF1) gene locus is frequent in desmoplastic neurotropic melanoma.

Mutations of the tumour-suppressor gene NF1 (neurofibromatosis 1) have been observed in neurofibromas and neurofibrosarcomas of patients with von Recklinghausen's disease and in sporadic nerve sheath tumours. In contrast, melanoma, another tumour type of neuroectodermal origin, rarely shows NF1 alterations. Desmoplastic neurotropic melanoma (DNM) is an uncommon melanoma subtype that shares morphological characteristics with nerve sheath tumours. Therefore, we analysed 15 DNM and 20 melanomas without morphological features of desmoplasia or neuroid differentiation (common melanomas) for loss of heterozygosity (LOH) at the NF1 locus and flanking regions. Allelic loss was detected in 10/15 (67%) DNM but only in 1/20 (5%) common melanomas. LOH was most frequently observed at marker IVS38, located in intron 38 of NF1. These data suggest a role for NF1 in the pathogenesis of DNM and support an earlier hypothesis that exon 37 might encode a functional domain. DNM may represent an interesting tumour model tor the further elucidation of the cellular functions and tumour-suppressive potential of neurofibromin.

Alleles↗

PubMed1984

The pathophysiology of neurofibromatosis. II. Angiosarcoma as a complication.

A patient with Von Recklinghausen neurofibromatosis and an angiosarcoma (which developed subsequent to two separate neurofibrosarcomas ) is described, and the association of neurofibromatosis and angiosarcoma is reviewed. The data showed that angiosarcoma is not coincidental with neurofibromatosis, and there is a need to focus investigative efforts on the vascular aspects of this disease.

Adult↗

PubMed1995

Allelic status of chromosome 1 in neoplasms of the nervous system.

By using five highly polymorphic markers, the allelic status of chromosome 1 was established in a series of 236 tumors of the nervous system, including all major histologic subtypes: gliomas, meningiomas, neurinomas, neuroblastomas, medulloblastomas, etc. Loss of alleles at 1p was observed at significant frequencies in neuroblastomas (26% of cases), meningiomas (32%), and malignant gliomas (37%) (primarily oligodendrogliomas [94%]). This anomaly was also detected in two of 23 neurinomas, two of three neurofibrosarcomas, one primary lymphoma, and two metastatic tumors of the brain. The analysis of tumors displaying partial 1p deletions suggests the existence of two distinct regions, 1p36 and 1p35-p32, in which loci nonrandomly involved in the development of neurogenic neoplasms might be located.

Alleles↗

PubMed1982

N-(phosphonacetyl)-L-aspartate (PALA) in advanced soft tissue sarcoma: a phase II trial of the EORTC soft tissue sarcoma group.

Thirty-six patients with measurable or evaluable advanced soft tissue sarcoma were entered in a phase II trial with PALA. Among the 27 evaluable patients, 15 were men, the median age was 55 yr (16-69) and the median performance status (Karnofsky) was 80 (50-100). Most patients had leiomyosarcoma (8), liposarcoma (3), neurofibrosarcoma (3), synovial cell sarcoma (3), or undifferentiated sarcoma (3). Indicator lesions consisted essentially of lung metastases (21) and/or soft tissue lesions (14). All patients had received prior chemotherapy with 1-5 regimens and 6 had achieved objective response with these previous treatments. PALA was given as a 60-min i.v. infusion at a daily dose of 2.5 g/m2 for two consecutive days. Courses were repeated every two weeks. A median number of 3 courses (2-17) were administered. Partial remission (greater than 50%) was obtained in one patient with a liposarcoma who had also responded to prior combination chemotherapy. This single response to PALA lasted 6 weeks from initiation of therapy. Four patients had unchanged disease after 6+ courses of PALA and 22 had progressive disease. Toxic effects were generally mild to moderate and included cutaneous toxicity (17), diarrhea (14), stomatitis (13), ocular manifestations, consisting of conjunctivitis, corneal ulceration and/or photophobia (11), nausea and vomiting (6) and, possibly, seizures (2). There was no evidence of drug-related myelosuppression. It is concluded that PALA given at the dose schedule selected for this trial has no significant antitumor activity in advanced soft tissue sarcoma previously treated with chemotherapy.

Adolescent↗

PubMed1987

Induction of malignant peripheral nerve sheath tumors in European hamsters with 1,1-dimethylhydrazine (UDMH).

A rate of up to 43% of malignant peripheral nerve sheath tumors (PNST) was induced in European hamsters (EH) after weekly s.c. administration of 1,1-dimethylhydrazine (UDMH). The overall neoplastic response in the treated EH was also elevated as compared to the untreated controls. Histologically, the malignant PNST were neurofibrosarcomas and melanotic as well as unpigmented schwannomas. The occurrence of melanotic schwannomas is briefly discussed with regard to the histogenesis of this rare tumor type.

Animals↗

PubMed1990

Radiation response in 10 high-grade human soft tissue sarcoma xenografts to photons and fast neutrons.

From a panel of 48 human soft tissue sarcomas growing as permanent xenografts, 10 tumor lines (five leiomyosarcomas, three malignant fibrous histiocytomas, two neurofibrosarcomas) have been selected to determine the radiation response to photons and fast neutrons. Using the specific growth delay (SGD) as an end-point, considerable variability of inherent radiosensitivity was observed. Isoeffective radiation doses varied by a factor of 27 for photons and of 9.4 for neutrons at a specific growth delay level of 0.5. The heterogeneity of the relative biological effectiveness (RBE) at this specific growth delay-level differed by a factor of 8. Relative biological effectiveness values for clamped tumors exceeded those of the normal tissues (RBE approximately 3) in 6 out of 10 tumor lines. Assuming a ratio of 0.5 for oxygen enhancement ratio-values of neutrons and photons, a therapeutic gain for neutrons existed in 4 out of 10 tumor lines under oxic conditions. No correlation between volume doubling times and relative biological effectiveness was seen.

Animals↗

PubMed1994

Experience in charged particle irradiation of tumors of the skull base: 1977-1992.

PURPOSE: To review the experience at University of California Lawrence Berkeley Laboratory in using charged particles to irradiate primary neoplasms of the skull base and those extending to the skull base from the nasopharynx and paranasal sinuses. METHODS AND MATERIALS: During the period from 1977 to 1992, 223 patients were irradiated with charged particles at the Lawrence Berkeley Laboratory for tumors either arising in or extending to the skull base, of whom 48 (22%) had recurrent lesions, either post previous surgery or radiotherapy. One hundred twenty-six patients had lesions arising in the cranial base, mostly chordoma (53), chondrosarcoma (27), paraclival meningioma (27) with 19 patients having other histologies such as osteosarcoma or neurofibrosarcoma. There were also 31 patients with primary or recurrent squamous carcinoma of the nasopharynx extending to the skull base, 44 patients with major or minor salivary gland tumors, mostly adenocarcinoma, and 22 patients with squamous carcinoma of the paranasal sinuses, all with cranial base extension. RESULTS: Local control and survival appeared improved in tumors arising in the skull base, following the ability with charged particles to deliver high doses (mean of 65 Gy-equivalent) with relative sparing of the adjacent normal tissues. The Kaplan-Meier 5-year local control was 85% for meningioma, 78% for chondrosarcoma, 63% for chordoma and 58% for other sarcoma. Follow-up ranged from 4-191 months with a median of 51 months. CONCLUSION: Charged particle radiotherapy is highly effective in controlling cranial base lesions which have have been partially resected. Better tumor localization with CT and MRI, improved 3-D treatment planning and beam delivery techniques have continued to reduce the level of serious complications and increase local control and survival.

Female↗

PubMed1997

Neuroblastoma and related tumors in Turner's syndrome.

OBJECTIVES: The identification of constitutional cytogenetic abnormalities in patients with cancer may indicate loci of genes, abnormalities of which are responsible for tumor development or progression. This study was undertaken to determine whether girls with Turner's syndrome (TS) (partial or complete deletion of an X chromosome, short stature, gonadal dysgenesis) are at increased risk of neural crest-derived tumors. STUDY DESIGN: Medical records of 394 patients with TS who were followed up at Thomas Jefferson Hospital and Children's Hospital of Pittsburgh were reviewed for documentation of TS phenotype, constitutional cytogenetics, and history of neuroblastoma or related tumors. Informative cases were reviewed for tumor pathology, primary site, disease stage, associated symptoms, treatment, and outcome. RESULTS: Three patients were found to have neuroblastoma. A fourth child who died of neurofibrosarcoma was found to have extensive areas of ganglioneuroma, the benign counterpart of neuroblastoma, at autopsy. An additional four girls with TS and neuroblastoma were identified in the literature, as were two more patients with ganglioneuroma. These 10 patients ranged in age from 1 week to 16 10/12 years (median age, 3 years), and all but two of the children had localized lesions. Two of the seven children with neuroblastoma had courses complicated by opsoclonus-myoclonus, a syndrome found in fewer than 5% of all patients with neuroblastoma. CONCLUSIONS: These data strongly suggest that girls with TS are predisposed to the development of neuroblastoma and related tumors. Because these tumors are often of limited stage and may be underdiagnosed, screening of urine of patients with TS for elevated catecholamine metabolite levels may strengthen this association.

Adolescent↗

PubMed1990

Neurofibromatosis: bladder involvement with malignant degeneration.

A solitary neurofibroma of the urinary tract is rare. More rare in the urinary tract are neurofibromas associated with the neurofibromatosis of Von Recklinghausen's disease. A case of multiple neurofibromas of the bladder degenerating into neurofibrosarcoma is described.

Humans↗

PubMed2005

[Imaging features of neurofibromatosis type 1].

Neurofibromatosis type 1 (NF1) is the most common of all the phakomatoses. It is an autosomal dominant disorder, with about 50% of patients being new mutations. NF1 is diagnosed based on the presence of well established diagnostic criteria. Prominent cutaneous manifestations include cafe-au-lait spots, freckling and cutaneous neurofibromas. CNS lesions are frequent and imaging is valuable for diagnosis, treatment and follow-up of patients. Tumors of the central nervous system are frequent. Optic nerve glioma usually affects younger patients with clinical symptoms in one third of cases. MRI shows fusiform enlargement with variable enhancement of the optic nerve. These tumors are usually non-aggressive with good prognosis. Other gliomas and astrocytomas can occur as well, usually midline in location, that also generally have good prognosis. Non-tumoral white matter lesions, referred as unidentified bright objects or UBO's, are frequently observed, typically in the basal ganglia and posterior fossa structures. These lesions are usually seen during childhood and they typically diminish with age. The distinction between UBO's and other tumors may be difficult to achieve at imaging, and a malignant evolution may very rarely be observed. Patients with NF1 may have hydrocephalus and dural sac anomalies leading to meningocele formation. Neurofibromas and plexiform neurofibromas involve peripheral nerves and nerve sheaths. Plexiform neurofibromas may cause radicular symptoms. They more frequently involve the lumbosacral plexus. Neurofibromas are homogeneous oval shaped tumors that may extend into the spinal canal. Neurofibrosarcoma is the main cause of death of NF1 patients less than 40 years of age. It may develop de novo or from sarcomatous degeneration of a pre-existing plexiform neurofibroma. It should be suspected in patients with new onset of symptoms or patients with changing symptoms. At imaging, it is characterized by a large heterogeneous tumor invading adjacent structures. Osseous lesions have been described including progressive thoracic scoliosis, vertebral anomalies (posterior scalloping is very suggestive), long bones anomalies with frequent bowing of the tibia, sometimes resulting in pseudarthrosis, and rib anomalies with ribbon ribs. Vascular lesions may occur resulting in arterial hypertension and aneurysm formation.

Bone Neoplasms↗