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

Immunohistochemical study with the use of PAP method on paraffine sections of two cases of triton tumour one of which developed against the background of Recklinghausen disease. The presence of vimentin and S-100 protein in the neurofibromatous cells and spindle-cell component of malignant triton tumour is shown. The muscle differentiation markers (desmin and myoglobin) are found in the polymorph-cell component. The positive reaction of the cytoplasmic processes of some cells in the neurofibromatous tissue to the antibodies against GFAP (glial fibrillar acid protein) is discussed. It is suggested that the number of S-100 protein-positive and vimentine-positive cells in the peripheral nerve sheath tumours reflects the degree of their differentiation. Hypotheses of the histogenesis of these rare tumours are discussed. The panel of antibodies for the differential diagnosis of malignant triton tumour with rhabdomyosarcoma, malignant schwannoma and other soft tissue tumours is proposed.
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PMID:[Malignant triton tumor (immunomorphological research)]. 217 81

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

The risk to developing a neoplasm is increased when associated to a patient phakomatosis (Recklinghausen neurofibromatosis, Bourneville's tuberous sclerosis). We analysed 6 cases with phakomatosis and tumours, admitted in the Department of Oncopediatry, between 1993-1998; five of these children had neurofibromatosis and one Bourneville's disease. The associated tumours were hematologic malignancies (juvenile myeloid chronic leukemia) and solid tumors (rhabdomyosarcoma, hepatic carcinoma, CNS tumour, NHL optic glioma). The diagnosis was confirmed by microscopic examination of the bioptic material in all cases. Tumoral staging was performed by clinics, biology and imagistic investigations. All cases had extensive and aggressive tumours at the moment of diagnosis, We noticed a poor response and an early relapse after chemotherapy. A special follow-up and a different management has to be established for the patients with phakomatosis, in order to have a good oncological prophylaxis.
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PMID:[Association between phakomatosis and neoplasia in children pathology. IV Pediatric Clinic experience]. 1208 80

Emergencies in childhood orbital tumorals are rare. The absolute emergency involves malignant primary orbital tumors, such as rhabdomyosarcoma or secondary malignant tumors (metastatic neuroblastoma, leukemia), involving a vital prognosis requiring prompt diagnosis. Delayed emergencies are usually vascular lesions. Among these lesions, immature orbital hemangioma, with a good prognosis, must be distinguished from orbital adnexal lymphangiomas, which are less frequent but can lead to dramatic cosmetic and functional disorders. In rare cases, they can be responsible for sudden, painful proptosis, due to orbital hemorrhage, with a risk of optic nerve compression, requiring emergency surgical treatment. Neurogenous lesions, either isolated, such as in gliomas, or associated with a systemic disease, such as Recklinghausen neurofibromatosis, threaten the functional prognosis. Diagnosis of pediatric orbital tumors is based on a good clinical examination, precise imaging investigations, and evaluation of the locoregional extension of the tumor. Biopsy is required in emergency situations, when rhabdomyosarcoma is suspected, in order to start the chemotherapy. However, the biopsy can be superfluous, and even useless or dangerous, when clinical and imaging investigations are sufficient to provide a diagnosis of capillary hemangioma, lymphangioma, or metastatic tumor from an abdominal malignancy. Treatment is closely related to the etiopathogenesis of the tumor. The outcomes are vital, functional and cosmetic. They may require orbital surgery (biopsy, tumoral resection, orbital decompression in case of a compressive hemorrhage), systemic corticotherapy (as in immature adnexal hemangioma), radiation, and chemotherapy (rhabdomyosarcoma, secondary malignant tumor). These diseases require a pediatric ophthalmological medical center specializing in orbital surgery, with close collaboration of multiple specialists such as onco-pediatricians and neurosurgeons.
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PMID:[Orbital tumor emergencies in childhood]. 1976 75