Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0035412 (rhabdomyosarcoma)
 6,156 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Malignant mesenchymoma within the right ulnar nerve of an 8 year old boy is described. The patient did not have stigmata of von Recklinghausen's neurofibromatosis. The growing and painful tumour was excised five and a half detection, and recurred five months later. Mingling of the nerve sheath sarcoma and rhabdomyosarcoma was noted within the same mass which was separated from the adjacent striated muscles. It is suggested that this mesenchymoma arose from mesenchymal cells or cells of mesenchymal type comprising the peripheral nerve sheath which is derived from ectomesenchyme of the neural crest.
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PMID:Malignant mesenchymoma of ulnar nerve: combined sarcoma of nerve sheath and rhabdomyosarcoma. 46 59

This is the first case report of an unusual malignant tumor with components of malignant schwannoma, rhabdomyosarcoma, and melanoma, occurring in an adult. The tumor was observed in the left temple in a 35-year-old man without von Recklinghausen's disease. The possible derivation of this tumor from primitive neuroectodermal cells is discussed.
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PMID:Malignant schwannoma with rhabdomyoblastic and melanocytic differentiation. 143 40

A case of a 65-year-old man with prostatic cancer associated with von Recklinghausen's disease ( VRD ) is reported. The coexistence of neural crest malignancies with VRD is well known. Recently, it has been reported that non-neural crest malignancies appear to occur with increased frequency in patients with VRD . The non-neural crest malignancies now known to be associated with VRD are Wilms' tumor, non-lymphocytic leukemia, rhabdomyosarcoma, and others. The relationship between VRD and non-neural crest malignancy (including carcinoma) is reviewed and briefly discussed.
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PMID:[A case of prostatic cancer associated with von Recklinghausen's disease]. 642 96

Malignant peripheral nerve sheath tumors are uncommon sarcomas of Schwann cell or fibroblastic derivation which occasionally show histologic evidence of focal divergent differentiation to rhabdomyosarcoma, osteosarcoma, chondrosarcoma, angiosarcoma, epithelial elements, or a combination thereof. The finding of these heterotopic elements in nerve sheath sarcomas is believed to illustrate the differentiating capacity of neuroectodermal tissue. The authors present the clinicopathologic features of 17 such tumors, which represent 14.7% of the malignant peripheral nerve sheath tumors in the authors' institutional experience. Most of the lesions were associated with von Recklinghausen's disease. These tumors do not seem to differ from ordinary malignant peripheral nerve sheath tumors in presentation, operative, gross, and microscopic features, response to therapy, or prognosis.
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PMID:Malignant peripheral nerve sheath tumors with divergent differentiation. 643 4

Characteristics of a little-studied tumor of soft tissues are described on the basis of the author's own material (4 observations) and data from the literature. The matter at issue is a benign or malignant schwannoma (less frequently, ganglioneuroblastoma) in which there are areas of rhabdomyosarcoma and sometimes tumor elements of mesenchymal origin (angio- lipo-, or osteogenic sarcoma). As a rule, this tumor is located along the peripheral nerve or arises in one of the nodes in Recklinghausen's disease and has a trend to hematogenic metastasising. It is suggested that the source of growth of neoplasias of this kind are the cells of "neural crest" migrating in the process of embryogenesis. These cells are responsible for the formation of lemmocytes, ganglial elements and melanocytes, as well as ectomesenchyma from which, in its turn, a part of cross-striated musculature is formed. Therefore, the tumors described in the paper should be designated as "neuroectomesenchymoma" (according to some authors, ectomesenchymoma).
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PMID:[Peripheral nerve ectomesenchymoma (neuroectomesenchymoma): a malignant tumor made up of neural crest elements]. 731 24

A rare case of primary jejunal malignant mixed tumor arising in a 49-64-old Japanese male with von Recklinghausen's disease is reported. The patient, who had a past history of partial gastrectomy due to duodenal ulcer, was admitted with a complaint of epigastric pain. Upper gastrointestinal examinations showed a huge polypoid tumor located in the efferent loop of the gastrojejunostomy site. Because the tumor was strongly suggestive of leiomyosarcoma on histological examination of biopsy specimens, laparotomy was performed. The resected tumor measuring 10 X 7 X 7 cm was composed of adenocarcinoma admixed with various sarcomatous components, including rhabdomyosarcoma, osteosarcoma, and other sarcomas. Immunohistochemical analysis also supported this diagnosis. The features of this tumor closely resembled malignant mixed mullerian tumor of heterologous type that develops in female genital organs. It is well known that patients with von Recklinghausen neurofibromatosis have an increased incidence of mesenchymal tumors and malignant neoplasias, and therefore, it seems that there is a possible relationship between the histogenesis of this peculiar tumor and the genetic abnormality in this patient.
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PMID:Primary jejunal malignant mixed tumor in a patient with von Recklinghausen neurofibromatosis. 867 54

Neurofibromatosis type 1 with dysmorphism and developmental delay is reported in a mother and two children. The son required treatment for a prostatic rhabdomyosarcoma. His sister has an optic pathway glioma. Fluorescence in situ hybridisation confirmed a submicroscopic deletion at 17q11.2. New evidence suggests an increased malignancy frequency in microdeletion cases.
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PMID:Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma. 1239 Sep 29

Neurofibromatosis 1 is an autosomal dominant disorder. Noonan's syndrome is known to be associated with neurofibromatoses. Patients with neurofibromatosis are predisposed to developing malignant tumors. The relationship between the genetic changes in the neurofibromin gene and mechanisms associated with tumor development in neurofibromatosis has been investigated. A non-sense mutation C2446T --> R816X of the neurofibromin gene has been detected in some patients with the neurofibromatosis 1-Noonan's syndrome phenotype. We describe a case of an infant with the overlapping features of neurofibromatosis 1 and Noonan's syndrome who presented with rhabdomyosarcoma of the urinary bladder. The genetic analysis of our patient revealed neither mutation in the neurofibromatosis 1-guanosine triphosphatase-activating protein-related domain nor the R816X nonsense mutation. The phenotypic and genotypic features of neurofibromatosis, Noonan's syndrome, and cases with the overlapping features of both syndromes have been reviewed. The presentation of our case underlines the importance of careful examination for the clinical features of neurofibromatosis and phenotypic traits of associated diseases, especially in patients with malignant tumors.
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PMID:Neurofibromatosis--Noonan's syndrome with associated rhabdomyosarcoma of the urinary bladder in an infant: case report. 1266 43

Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder, affecting approximately 1 in 3,500 individuals worldwide. Mutations of the NF1 tumor suppressor gene predispose individuals to a variety of benign and malignant tumors. Rhabdomyosarcoma (RMS) is an uncommon malignant soft tissue sarcoma and is also a rare tumor type in NF1 patients. We report two cases of NF1 with RMS. The first is that of an infant with overlapping phenotypic features of NF1 and Noonan syndrome (NS) who presented with RMS of the bladder. The second infant likewise exhibited NF1 features and was also associated with bladder RMS. DNA samples were extracted from peripheral blood and tumor tissue samples. We performed loss of heterozygosity (LOH) analysis of the NF1 gene by using seven intragenic markers (IVS27AAAT2.1, IVS27EVI-20, IVS27AC24.8, IVS27AC28.4, M98509, IVS27AC33.1, IVS38TG53.0) and one extragenic polymorphic marker (3'NF1). A large deletion was detected in the NF1 gene in the NF1-Noonan syndrome (NF-NS) case associated with RMS.
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PMID:Two neurofibromatosis type 1 cases associated with rhabdomyosarcoma of bladder, one with a large deletion in the NF1 gene. 1643 22

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders. NF1 is clinically characterized by neurofibromas, pigmentation anomalies, and an increased risk of malignant tumors. The NF1 gene product, neurofibromin, has a GTPase-activating protein domain (GRD) that interacts with the Ras protein, which is crucial in regulating signal transduction and cell proliferation/differentiation. We performed mutation analyses in the NF1-GRD region (exons 21-27a) and in exons 4b, 16, 29, and 37, and intron 28 in 17 NF1 patients with tumors. We identified a large deletion in the NF1 gene in a patient with a rhabdomyosarcoma as well as a variation in intron 22 in a patient with an optic glioma. We also found a 4-base pair deletion in another patient with optic glioma. In addition, allelic loss of the NF1 locus was shown in a pilocytic astrocytoma. Functional analyses of mutations in the NF1 gene may provide further insights into the pathogenesis of NF1 tumors.
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PMID:Molecular genetic analyses in neurofibromatosis type 1 patients with tumors. 1652 12


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