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)

The original diagnosis of rhabdomyosarcoma (RM) was critically evaluated by histology, immunohistochemistry, and electron microscopy in a retrospective series of 25 patients older than 40 years of age. Only two of the 25 patients (8%) were verified to have RM by strict criteria. By light microscopy, the true RM had a spindle or round cell appearance and were subtyped as embryonal RM, although some pleomorphism was present. Sarcomeric differentiation was revealed by electron microscopy, and desmin and muscle actin by immunohistochemistry. Both of these tumors arose in the urogenital organs, one in the urinary bladder and the other in the prostatic region. Both patients died within 3 months of the diagnosis. The other tumors not verified as RM were pleomorphic or spindle cell sarcomas (n = 17), ten of which were considered to represent malignant fibrous histiocytoma, or had desmin and/or muscle actin, and were verified as leiomyosarcomas by electron microscopy (n = 2). There were single cases of undifferentiated carcinoma, probable neuroendocrine carcinoma, extraskeletal osteosarcoma, and pleomorphic liposarcoma. The average survival for the non-RM tumor patients was 32 months. The results show that true RM do occur in the elderly, but they are very rare. Such tumors may have clinicopathologic properties similar to embryonal RM in children both in regard to the site of origin and to the histologic picture. True RM seems to carry a worse prognosis than other pleomorphic sarcomas, and this emphasizes the need for accurate diagnosis.
 ...
PMID:Rhabdomyosarcoma in patients older than 40 years of age. 316 18

The term "small round-cell tumor" describes a group of highly aggressive malignant tumors composed of relatively small and monotonous undifferentiated cells with high nuclear to cytoplasmic ratios. This group includes Ewing's sarcoma (ES), peripheral neuroepithelioma (aka, primitive neuroectodermal tumor or extraskeletal ES), peripheral neuroblastoma ("classic-type"), rhabdomyosarcoma, desmoplastic small round-cell tumor, lymphoma, leukemia, small-cell osteosarcoma, small-cell carcinoma (either undifferentiated or neuroendocrine), olfactory neuroblastoma, cutaneous neuroendocrine carcinoma (aka, Merkel-cell carcinoma), small-cell melanoma, and mesenchymal chondrosarcoma. Their clinical presentations often overlap, thus making a definitive diagnosis problematic in some cases. Yet, a clear understanding of their clinicopathologic features usually allows for a confident diagnosis, especially if immunohistochemistry is used. The following is a review of the immunohistochemistry of this small round-cell tumor group.
 ...
PMID:Immunohistochemistry of small round-cell tumors. 1096 7

The recombinant antibody fragment Fab GLN 495 recognizes an epitope shared by members of the neuron-associated Hu protein family (including HuC, HuD, and HelNl). This novel reagent labels the nuclei of neurons throughout the peripheral and central neuraxes and has been shown to recognize pulmonary small cell carcinomas and central nervous system (CNS) tumors of mature neuronal phenotype or neuronogenic differentiating capacity. Using this Fab fragment, we have undertaken a systematic survey of normal human tissues and an assessment of 554 non-CNS tumor samples for immunohistochemical evidence of Hu expression. Adrenomedullary cells, pancreatic islet cells, paraganglial chief cells, isolated adenohypophyseal cells, and spermatogonia were the only nonneuronal normal tissue elements to bind Fab GLN 495. In addition to labeling all 10 small cell carcinomas studied (six of which were extrapulmonary in origin), this recombinant anti-Hu Fab proved immunoreactive with neuroblastomas (four/four), esthesioneuroblastomas (one/one), typical (three/four) and atypical (one/four) pulmonary carcinoids, pancreatic islet cell tumors (two/six), large-cell neuroendocrine carcinoma of lung (one/four), Merkel cell tumors (two/three), medullary carcinomas of the thyroid (four/six), pheochromocytomas (two/four) and paragangliomas (four/four). Nonneural/neuroendocrine tumor labeling was restricted to the neuronal and immature neuroepithelial components of teratomas, to extraskeletal myxoid chondrosarcomas (three/four) and to small subsets of cells within examples of renal rhabdoid tumor (one/four), desmoplastic small cell tumor (one/four), alveolar rhabdomyosarcoma (two/four), Ewing sarcoma/PNET (two/nine), and Wilms tumor (one/four). Immunoreactivity was principally nuclear, with variable cytoplasmic labeling. Our findings support the largely restricted expression of Hu by neural/neuroendocrine neoplasms, suggest a potential role for Fab GLN 495 in the identification of small cell carcinomas irrespective of primary site, and support a recent proposal that at least some extraskeletal myxoid "chondrosarcomas" actually represent neuroendocrine tumors of soft parts. Int J Surg Pathol 8(2):109-117, 2000
 ...
PMID:Hu Immunolabeling as a Marker of Neural and Neuroendocrine Differentiation in Normal and Neoplastic Human Tissues: Assessment Using a Recombinant Anti-Hu Fab Fragment. 1149 75

The current study disusses a new approach to the group of small round cell tumors (SRCTs) independently of their primary anatomical location. We perform this analysis supported mainly by morphological means and particularly with the help of immunohistochemistry and electron microscopy; the last of which continues to play a decisive role in their differential diagnosis. The microscopical similarity of many of these tumors often makes the diagnosis in routine histology extremely difficult, due to the varying degree of heterogeneity present, and may have important therapeutic and prognostic implications. Thus a correct final diagnosis is mandatory for the clinic. Within the group of tumors that express a dominant or occasional small round cell pattern "SRCT" (neoplasms of the Central Nervous System excluded) are included: Ewing's sarcoma and peripheral neuroectodermal tumor (Es/pPNET) comprising its varieties, neuroblastoma, desmoplastic small round cell tumor, rhabdomyosarcoma, alveolar, solid and embryonal, small cell osteosarcoma, chondrosarcoma, myxoid and mesenchymal, round cell and myxoid liposarcoma, synovial sarcoma (monophasic undiffentiated), primitive malignant peripheral nerve sheath tumor (malignant small cell schwannoma), malignant non-Hogdkin lymphoma, Merkel cell tumor of the skin (small cell carcinoma including neuroendocrine carcinoma). This study discusses in each case not only the histology, supported by immunohistochemistry, but also the main ultrastructural characteristics. We are conscious that in some cases further cytogenetic or molecular biology support may be necessary, when considering the limits of morphology today. Thus, short references on molecular genetics, complementing the structural findings, are given.
 ...
PMID:Electron microscopy and other ancillary techniques in the diagnosis of small round cell tumors. 1269 73

Pulmonary carcinosarcomas are typified by the rare histological combination of mixed epithelial and mesenchymal malignant tumor cells. The author has experienced three cases of pulmonary carcinosarcomas with large mass formation. Case 1 was the combination of adenocarcinoma with focal squamous cell differentiation and chondrosarcoma. In case 2, adenocarcinoma was combined with rhabdomyosarcoma. Case 3 demonstrated a large cell neuroendocrine carcinoma and rhabdomyosarcoma. The immunohistochemical findings showed that many of the carcinoma cells in case 3 and some carcinoma cells in case 2 demonstrated neuroendocrine cell differentiation. The nuclei in all sarcoma cells stained definitively positive for the transcription factor MEF-2. Many of the lineage-specific transcription factors for lung development were not distributed in the tumor tissue. Ultrastructurally, in all three cases, cell-to-cell (forming cellular junctions), cell-to-matrix, and epithelial-mesenchymal interactions were seen. In the interface or boundary between the carcinoma cell nests and the matrix-embedded sarcoma cells, well-developed basal lamina and fibroblastic spindle cells were frequently seen, with an appearance similar to primitive fibroblastic or mesenchymal cells, extending thin cytoplasmic process around the carcinoma cell nests. In summary, carcinosarcoma cells interacted with each other and with their extracellular matrix, revealed MEF-2 in the sarcoma cells, and showed unique histological findings associated with a variety of phenotypic differentiation patterns very different from normal lung development.
 ...
PMID:Electron microscopy and immunohistochemistry studies of pulmonary carcinosarcomas expressing the transcription factor MEF-2 and showing significant cell-to-cell, cell-to-matrix, and epithelial-mesenchymal interactions. 1508 59

No more than 11 cases of carcinosarcoma of the liver have been reported in the past 40 years that fulfill the definition of hepatocellular carcinoma combined with differentiated sarcomatous elements. Most cases consist of hepatocellular carcinoma with 1 to 2 heterologous elements. We report a case of a 51-year-old woman with liver carcinosarcoma consisting of 3 carcinomatous components and 4 sarcomatous components. Hepatocellular carcinoma, fibrolamellar type, was accompanied by neuroendocrine carcinoma (neuron-specific enolase and synaptophysin positive) and adenocarcinoma (cytokeratin 7 and 20 positive). The sarcomatous elements consisted of poorly differentiated spindle cell neoplasm (vimentin positive), leiomyosarcoma (smooth muscle actin positive), rhabdomyosarcoma (desmin positive), and osteosarcoma. To our knowledge, this is the first case of liver carcinosarcoma with this many differentiated heterologous features. There are differing views on the pathogenesis of this tumor. Findings in this case support the view that metaplasia of carcinomatous cells gives rise to the sarcomatous elements.
 ...
PMID:Carcinosarcoma of the liver: a case report and review of the literature. 1591 31

We report a case of carcinosarcoma of the parotid gland in a 72-year-old Japanese man. The patient noticed a rapidly enlarging hard mass in the right parotid gland. He underwent radical parotidectomy with cervical lymph node dissection. The resected tumor measured 3.5 x 4.5 cm and histopathologically showed carcinomatous and sarcomatous components. The carcinomatous component consisted of large-cell neuroendocrine carcinoma (LCNEC), squamous cell carcinoma and adenocarcinoma not otherwise specified, while the sarcomatous component included spindle cell sarcoma not otherwise specified, so-called myxosarcoma and rhabdomyosarcoma. The LCNEC component was predominant within the whole tumor. The diagnoses of LCNEC and rhabdomyosarcoma were also confirmed immunohistochemically. With regard to histopathogenesis, based on the lack of histopathological evidence and antecedent history of pleomorphic adenoma, we considered the present case to be de novo, not expleomorphic adenoma.
 ...
PMID:Carcinosarcoma of the parotid gland: an unusual case with large-cell neuroendocrine carcinoma and rhabdomyosarcoma. 1599 63

Alveolar rhabdomyosarcoma is remarkably rare in adults older than 45 years. Initial immunoprofiling of a small cell neoplasm of the head and neck region in an older adult may not include myogenic markers. A valuable diagnostic aid and important prognostic parameter in alveolar rhabdomyosarcoma is the identification of PAX3-FOXO1 [t(2;13)(q35;q14)] or PAX7-FOXO1 [t(1;13)(p36;q14)] rearrangements. The purpose of this study was to document the clinicopathologic, immunophenotypic, and genetic features of head/neck alveolar rhabdomyosarcoma in older adults. Prior isolated descriptions of 3 patients were included. Five patients were female and 2 male (median age, 61 years). Each neoplasm was composed of undifferentiated, small round cells in a predominantly solid pattern. Initially, ordered immunostains corresponded with early diagnostic impressions of a hematologic malignancy or neuroendocrine carcinoma. CD56 was positive in 5 of 5 tumors and synaptophysin in 1 of 6. Given the virtual absence of other lymphoid or epithelial markers, muscle immunostains were performed and these were positive. Definitive alveolar rhabdomyosarcoma diagnoses were confirmed genetically. This study illustrates the diagnosis of head/neck alveolar rhabdomyosarcoma in older adults is complicated by its rarity, lack of an alveolar pattern, and a potentially misleading immunoprofile (CD56 and synaptophysin immunoreactivity) if myogenic markers are not used. Both PAX3- and PAX7-FOXO1 alveolar rhabdomyosarcomas were identified in these patients. In children, PAX7-FOXO1 alveolar rhabdomyosarcoma is associated with a significantly longer event-free survival. In contrast, adult alveolar rhabdomyosarcoma behaves more aggressively with a worse overall survival than pediatric alveolar rhabdomyosarcoma. Further follow-up and additional cases are required to assess the prognostic relevance of these fusion transcripts in the context of advanced age.
 ...
PMID:Alveolar rhabdomyosarcoma of the head and neck region in older adults: genetic characterization and a review of the literature. 1897 19

Nonsquamous carcinomas of the larynx are very rare and present a diverse group of diseases. Timely recognition of these tumors is extremely important for their different origin, appearance, and approach in the treatment and prognosis. Polypoid and submucosal lesions of the larynx are characteristic findings in these tumors, and probably the reason for late diagnosis even in the presence of symptoms. According to cell origin, nonsquamous carcinomas are classified into secretory, connective tissue, lymphoreticular, melanoma, or metastatic carcinoma. In this study, 771 laryngeal carcinomas treated during a 15-year (1990-2005) period at the Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital Center Zagreb, were reviewed to yield 11 cases of nonsquamous carcinoma, including one case of neuroendocrine carcinoma, leiomyosarcoma, fibrosarcoma, rhabdomyosarcoma, adenoid cystic carcinoma, and plasmacytoma, 2 cases of chondrosarcoma, and 3 cases of high-grade mucoepidermoid carcinoma. Our experience and treatment results for these tumors are presented.
 ...
PMID:[Nonepidermoid carcinomas of the larynx--15 years experience in the single institution]. 1976 80

Undifferentiated malignant round cell tumors of the sinonasal tract and nasopharynx comprise of aggressive malignant neoplasms with overlapping morphologic features, which yet are very different and can be identified as carcinoma, lymphoma, sarcoma, melanoma or olfactory neuroblastoma. Differentiating these tumors is important because their treatment and prognosis are quite different. Because of the limited initial biopsy tissue materials, major differential diagnostic difficulties may arise. The use of a panel of immunohistochemical markers and the identification, in some cases, of specific chromosomal translocations are most often required. We describe clinical, morphological, immunohistochemical and molecular features as well as therapeutic management and prognosis of rhabdomyosarcoma (RMS), Ewing sarcoma/primitive neuroectodermic tumor (EWS/PNET), nonkeratinizing nasopharyngeal carcinoma, undifferentiated subtype (UCNT), olfactory neuroblastoma (ONB), small cell carcinoma, neuroendocrine type (SCCNET), sinonasal undifferentiated carcinoma (SNUC) and mucosal melanoma. Mesenchymal chondrosarcoma, small round cell synovialosarcoma, lymphomas and plasmocytoma are not introduced. The most important features of diagnosis will be summarized in two tables.
 ...
PMID:[Undifferentiated malignant round cell tumors of the sinonasal tract and nasopharynx]. 1990 Jun 35


1 2 Next >>