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)

Thirty-five patients (10 men and 25 women) with a preoperative diagnosis of cardiac myxoma have undergone cardiac surgery since 1964 at the University of Louvain. The mean age of the patients was 49 (range 20-75) years. The most commonly encountered symptoms were: dyspnoea 49%; thoracic pain 26%; cough and peripheral embolism 17% each; stroke and preoperative atrial fibrillation 14% each; flutter 11%; expectoration, acute pulmonary oedema, syncope and transient ischaemic attack 6% each; and pulmonary embolism 3%. The different locations were: left atrium 66%; right atrium 26%; both atria 3%; right ventricle 3%: and retrohepatic vena cavae 3%. Septal implantation was found in 66%. Histological examination confirmed 28 myxomas but three 'tumours' were thrombi, two haemangiomas, one rhabdomyosarcoma and one liposarcoma. The follow-up has now reached 2829 months with an average of 81 months per patient (range 0-342 months). Three patients died early (9%) and there were four late deaths (11%). No cases were familial. Surgical resection is the correct treatment for cardiac myxomas and gives good long-term results.
 ...
PMID:Cardiac myxoma. 807 15

Amplification of cellular oncogenes may be important for the development and progression of malignant tumors. In human sarcomas, amplification of several genes located to the q13-14 region of chromosome 12 has been reported. Because the mdm2 protein seems to inactivate the tumor suppressor protein p53, a selective growth advantage of 12q13-14 amplification has previously been assigned to increased copy number and expression of the MDM2 gene. We have analyzed a panel of 98 human sarcomas of different subtypes to characterize the 12q13-14 amplica and determine which of the genes GLI, A2MR, SAS, MDM2, and GADD153 (CHOP) in this region was most consistently amplified. MDM2 was amplified in 9 of the tumors, SAS in 10, GADD153 in 4, GLI in 2, and A2MR in 2. Amplification was, in most cases, associated with increased expression of the corresponding gene. SAS and MDM2 were coamplified in 8 of the tumors, whereas GADD153, GLI, and A2MR were only amplified together with SAS. One liposarcoma showed amplification of MDM2 alone, whereas two osteosarcomas and a rhabdomyosarcoma cell line showed amplification of SAS and GADD153 (CHOP) but not MDM2. It is suggested that the selective target for these amplica may be an as yet unidentified gene localized between SAS and MDM2.
 ...
PMID:Mapping of amplification units in the q13-14 region of chromosome 12 in human sarcomas: some amplica do not include MDM2. 811 20

A lipid rich rhabdomyosarcoma of the paratesticular region was studied by light microscopy, histochemistry, immunohistochemistry and electron microscopy. The tumour was composed of primitive looking, vacuolated, and pleomorphic cells. Lipid was present in varying amounts in all cells but was especially abundant in the vacuolated and pleomorphic cells. Some cells showed eosinophilic fibrillary cytoplasm but cross-striations were not seen. Tumour cells were positive for desmin, muscle specific actin, and vimentin. A few cells were myoglobin positive. At electron microscopy, the presence of lipid was confirmed, while thick and thin filaments, Z disks, lamina and glycogen were observed, thereby confirming striated muscle differentiation. Although moderate amounts of lipid can be expected in almost any tumour, lipid rich rhabdomyosarcomas have received little attention. The present report provides a comprehensively examined case of such a tumour initially presenting diagnostic difficulty because of its possible confusion with liposarcoma.
 ...
PMID:Lipid rich rhabdomyosarcoma. 816 5

An immunohistochemical study on frozen sections was carried out on 51 malignant tumours of soft tissue and bone using the FU-3 monoclonal antibody. This antibody is claimed to be specific for malignant fibrous histiocytoma (MFH) and liposarcoma and for normal and tumour cells located in perivascular fields. The results show a lack of specificity in MFH staining: several malignant tumours such as synovial sarcoma, fibrosarcoma, rhabdomyosarcoma, osteogenic sarcoma, and including an anaplastic malignant melanoma, presented positive staining somewhat similar to that found in MFH. The value of this antibody in the differential diagnosis of MFH is doubtful. It might be useful to recognize a common pathway of terminal differentiation expressed by several pleomorphic sarcomatous neoplasms.
 ...
PMID:FU-3 monoclonal antibody: a specific marker for malignant fibrous histiocytoma? An analysis of 32 malignant soft tissue and bone sarcomas. 818 89

The sarcomas are an extremely heterogeneous group of neoplasms that continue to present substantial diagnostic and therapeutic challenges. It is notable, therefore, that great strides have been made in the genetic characterization of sarcomas over the past few years. The very consistent chromosome translocations in Ewing's sarcoma, myxoid liposarcoma, and alveolar rhabdomyosarcoma have been cloned, and the oncogenes deregulated by these translocations have been identified. These characteristic genetic aberrations can now be used as diagnostic markers.
 ...
PMID:Cytogenetics and experimental models of sarcomas. 836 82

An 8-month-old female infant with a primary carcinoma of the choroid plexus developed a rhabdomyosarcoma in the anterior chest wall at the age of 1 year and 2 months. Her mother had developed a liposarcoma in her left thigh at the age of 17 years. One of the patient's siblings had a rhabdomyosarcoma of the epipharynx at the age of 1 year. This is the fourth reported case of a choroid plexus carcinoma occurring in Li-Fraumeni syndrome.
 ...
PMID:Primary carcinoma of the choroid plexus in Li-Fraumeni syndrome: case report. 842 42

Twenty-eight epithelial and 22 nonepithelial feline tumors were studied immunohistochemically. Epithelial tumors were 10 squamous cell carcinomas, two basal cell tumors, two sebaceous gland carcinomas, three apocrine gland carcinomas, three thyroid papillary carcinomas, one thyroid solid carcinoma, one renal clear cell carcinoma, one renal papillary carcinoma, one endometrial carcinoma, and four lung bronchioloalveolar carcinomas. Nonepithelial tumors were 10 fibrosarcomas, one liposarcoma, one leiomyosarcoma, one rhabdomyosarcoma, one hemangiosarcoma, two mast cell tumors, one osteosarcoma, three melanomas, and two lymphomas. Commercially available antibodies directed against high- and low-molecular-weight keratins (keratin, RCK-102, NCL-5D3), vimentin, desmin, glial fibrillary acidic protein (GFAP), and neurofilament intermediate filament (IF) proteins were used in the avidin-biotin-peroxidase complex technique on formalin-fixed, paraffin-embedded tumor tissue samples. All epithelial tumors except the endometrial carcinoma expressed some type of keratin protein. Squamous cell carcinomas expressed high-molecular-weight keratins exclusively. Coexpression of high- and low-molecular-weight keratins was observed in one basal cell tumor, sebaceous and apocrine adenocarcinomas, and thyroid, renal, and lung carcinomas. In addition to keratins, vimentin immunoreactivity was found in all basal cell tumors, all sebaceous gland, thyroid papillary, renal, and lung adenocarcinomas, and one of the apocrine gland adenocarcinomas. Immunoreactivity with GFAP antibody was found in one basal cell tumor and one sebaceous gland adenocarcinoma. The endometrial carcinoma did not react with any of the antibodies applied. Nonepithelial tumors analyzed expressed either vimentin (fibrosarcomas, liposarcoma, haemangiosarcoma, mast cell tumors, osteosarcomas, melanomas) or vimentin and desmin (leiomyosarcoma, rhabdomyosarcoma, one fibrosarcoma) IF proteins exclusively. Lymphomas did not react with any of the antibodies employed. These findings indicate that IF proteins antibodies can be included in diagnostic panels of antibodies for immunocharacterization of feline tumors. In addition, they can be used as a basis for the diagnoses of poorly differentiated or undifferentiated feline neoplasms.
 ...
PMID:Immunohistochemical distribution pattern of intermediate filament proteins in 50 feline neoplasms. 859 5

Recent cytogenetic studies have revealed that several types of benign and malignant human soft tissue tumors are characterized by highly specific chromosome abnormalities. In this article, we review the primary and secondary chromosome aberrations detected in lipoma, uterine leiomyoma, Ewing sarcoma, rhabdomyosarcoma, myxoid liposarcoma, synovial sarcoma, and clear cell sarcoma of tendons and aponeuroses. The primary aberrations are unique for the particular tumor type and therefore are of diagnostic value. Most recent molecular studies indicate that several sarcoma-specific translocations result in the gene fusion and creation of tumor-specific proteins that are novel DNA transcription factors.
 ...
PMID:[Specific chromosome aberrations in human soft-tissue tumors and their diagnostic significance]. 865 44

Soft tissue sarcomas are a heterogeneous group of malignant tumors displaying a wide range of clinical presentations, morphological features, and biological behaviors. These characteristics and the recent development of differentiated treatment regimens for the different types of soft tissue sarcomas call for refined histological classification using additional ancillary approaches such as cytogenetic and molecular genetic analyses. We coupled classical cytogenetics and fluorescent in situ hybridization (FISH) on both metaphases and interphase nuclei to show the feasibility of this approach to characterize tumor type-specific chromosome rearrangements in soft tissue sarcomas of different histotype. In 35 cases analyzed, we detected the presence of specific chromosome rearrangements such as t(X;18) in synovial sarcoma (SS), t(12;16) in myxoid liposarcoma (MLS), t(11;22) in peripheral primitive neuroectodermal tumors (pPNET), t(2;13) in alveolar rhabdomyosarcoma (ARMS) and ring chromosomes in dermatofibrosarcoma protuberans (DFSP). In several cases, the presence of these cytogenetic rearrangements was of help for a differential diagnosis. The FISH analysis using painting probes not only confirmed the cytogenetic results but also allowed the identification of tumor-specific chromosome changes in those cases presenting low mitotic index or with poor quality chromosomes. Moreover, in the absence of analysable metaphases, FISH was successfully performed on interphase nuclei. Taken together, these results indicate both the diagnostic and clinical relevance of a molecular cytogenetic analysis in the study of soft tissue sarcomas.
 ...
PMID:Relevance of cytogenetic and fluorescent in situ hybridization analyses in the clinical assessment of soft tissue sarcoma. 902 92

A unique case of primary myxoid liposarcoma of the thigh, in which focal pleomorphic areas were present containing rhabdomyoblasts, is described. Focal rhabdomyosarcoma in liposarcoma has only rarely been reported previously and only in dedifferentiated liposarcomas of the retroperitoneum. All but one have been recurrences with rhabdomyoblasts being absent in the primary liposarcoma. As rhabdomyoblasts were only focally present, the present case is regarded as liposarcoma with focal divergent rhabdomyoblastic differentiation rather than malignant mesenchymoma.
 ...
PMID:Focal rhabdomyosarcomatous differentiation in primary liposarcoma. 903 49


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>