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)

A cell line (SCMC-MM-1) was established from a human abdominal tumor that was initially diagnosed as a malignant mesenchymoma by histological, immunohistochemical and clinical criteria. The cell line was composed of 2 morphologically and immunohistochemically distinct cell types, one with a small polygonal phenotype (P-type), characterized by the immunostaining of vimentin and the presence of a few electron-microscopically visible organelles, and the other with a giant tubular phenotype (T-type), characterized by the immunostaining of desmin, alpha-sarcomeric actin and skeletal-muscle myosin, and the presence of thick and thin myofilaments and Z-line materials. The parental cell line was cloned into 2 sublines, a P-type clone (SCMC-MM-1-19P) and a T-type clone (SCMC-MM-1-1T), which shared both 2q37 and 11p15 translocations, the characteristic chromosomal aberrations for rhabdomyosarcoma, with the parental SCMC-MM-1 cell line. Northern-blot analyses of the myogenic regulatory genes, including MyoD1 and myogenin, demonstrated the expression of MyoD1 in both of these sublines. Myogenin was very weakly expressed in the SCMC-MM-1-19P subline, but strongly expressed in the SCMC-MM-1-1T subline. Chromosomal and myogenic-regulatory-gene analyses revealed that both of these sublines were rhabdomyosarcoma cell lines. Furthermore, the regulatory-gene analyses indicated that these 2 sublines represented 2 distinct differentiation stages of myoblasts, and that MyoD1 and myogenin could serve as the lineage marker and the differentiation marker, respectively, of human rhabdomyosarcoma.
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PMID:Differential expression of myogenic regulatory genes, MyoD1 and myogenin, in human rhabdomyosarcoma sublines. 131 1

A parent rhabdomyosarcoma cell line designated SCMC-RM2 was established from bone-marrow tumor cells taken from an 11-year-old girl with an embryonal rhabdomyosarcoma. Subsequently a cloned SCMC-RM2-1 cell line was isolated from a parent line. These cell lines grew as adherent monolayers in liquid culture with a doubling time of 50 and 52 hr, respectively. In addition, colonies were established in soft agar, which grew in a dose-dependent fashion with a cloning efficiency of 0.7 and 0.8%, respectively. Chromosomal analysis showed these cell lines had neither double minutes nor homogeneously staining regions. Chromosome number ranged from 61 to 93, translocation; t(9;13)(p22;q14) was identified, and no alteration of chromosome 2 was observed. Surface membrane antigen profile of parent and cloned lines by using a panel of 24 monoclonal antibodies (MAbs) excluded the possibility of these being neuroblastoma cell lines. In addition, MAbs to the cytoplasmic protein desmin, myoglobin, muscle actin (alpha and gamma) and alpha-sarcomeric actin reacted with these cell lines, SCMC-RM2 and SCMC-RM2-1 being thus identified as rhabdomyosarcoma. Southern blot analyses revealed 8- and 7-fold amplification of the N-myc gene in SCMC-RM2 and SCMC-RM2-1 as compared with the promyelocytic cell line HL60. Over-expression of the N-myc mRNA was noted over control cell lines.
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PMID:Characterization of an embryonal rhabdomyosarcoma cell line showing amplification and over-expression of the N-myc oncogene. 232 48

The diagnosis of orbital rhabdomyosarcoma (RMS) in childhood gives rise to several clinical and anatomo-pathological problems. Antibodies recognizing structural proteins and cytoskeletal components have been shown to increase the diagnostic accuracy of different neoplastic lesions. In this study we examined anatomo-clinically and, where possible, by means of immunohistochemistry and electron microscopy, a series of 14 cases of orbital RMS in childhood. In the 12 cases studied by immunohistochemistry, desmin was always present, although showing variable patterns, and alpha-sarcomeric actin was found in 10 cases. alpha-Smooth muscle actin was always absent. The other markers tested (myoglobin, polyclonal actin, vimentin and enolase) proved unreliable for several reasons. We conclude that antibodies against desmin and alpha-sarcomeric actin are useful for the diagnostic definition of RMS. In addition, immunohistochemical analysis supplies data regarding the degree of tumor differentiation and may be applied to monitor radio- and chemotherapy.
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PMID:Expression of actin isoforms and intermediate filament proteins in childhood orbital rhabdomyosarcomas. 279 Jul 29

Three distinct subpopulations (A, B, C) derived from a dimethylbenzanthracene-induced rat rhabdomyosarcoma were established as permanent cell lines. Although the clonal nature of each of these subpopulations was confirmed by repeated recloning procedures, a striking intraclonal phenotypic heterogeneity was observed. By means of immunofluorescence microscopy and transmission electron microscopy, it could be shown that these subpopulations closely recapitulate stages of embryonic rhabdomyogenesis both in vitro and in vivo, but differ in their particular range of maximum differentiation. Embryonic rhabdomyogenesis is imitated most perfectly by subpopulation C, in which multinuclear myotubes are formed in vitro by fusion of mononuclear cells, and alpha-sarcomeric actin is expressed in the multinuclear cells and in a few mononuclear cells. After retransplantation in vivo, subpopulation C further proceeds in fine structural differentiation, now exhibiting myofibrils with a sarcomeric organization in the myotube-like giant cells. The cells of subpopulation B do not exceed the stage of mononuclear desmin-positive cells in vitro, but synthesize thin and thick myofilaments after retransplantation in vivo. The cells of subpopulation A recapitulate embryonic rhabdomyogenesis least successfully being confined to the stage of mononuclear desmin-positive cells. Thus, the coexistence of diverse subpopulations and the cellular maturation within these subpopulations together contribute to the phenotypic heterogeneity of rhabdomyosarcomas.
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PMID:The intraclonal and interclonal phenotypic heterogeneity in a rhabdomyosarcoma cell line with abortive imitation of embryonic myogenesis. 290 May 72

A series of 15 rhabdomyosarcomas was examined by light microscopy, transmission electron microscopy, two-dimensional gel electrophoresis (2D-GE) and indirect immunofluorescence, the latter using monoclonal or affinity-purified polyclonal antibodies to desmin, vimentin, alpha-smooth muscle and alpha-sarcomeric (alpha-sr) actins. By light microscopy, the authors diagnosed 1 botrioid, 1 alveolar, and 7 embryonal rhabdomyosarcomas, 4 pleomorphic spindle cell sarcomas, and 2 spindle cell sarcomas, one nondistinct, the other with a hemangiopericytomatous pattern. By transmission electron microscopy, 13 neoplasms disclosed rhabdomyoblastic differentiation; the remaining 2, myogenic differentiation. By immunofluorescence microscopy, all neoplasms expressed vimentin and alpha-sr actin, 12 expressed, in addition, desmin, and 1 expressed alpha-smooth muscle actin. Among the 11 neoplasms studied by means of 2D-GE, 7 demonstrated an alpha-actin spot, while 4 showed only beta and gamma spots. One tumor disclosed, in addition to alpha, beta, and gamma spots, a spot with a molecular weight corresponding to actin, but more acidic than alpha-actins. This study demonstrates that alpha-sr actin antibody represents a valuable marker for the diagnosis of rhabdomyosarcoma, because it was present in all neoplasms, including the one negative for desmin. This antibody further allowed the recognition of pleomorphic variants and morphologically atypical forms of rhabdomyosarcomas. The presence of alpha-smooth muscle actin in 1 case of rhabdomyosarcoma suggests that this actin isoform may be expressed during skeletal muscle differentiation.
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PMID:Intermediate filament proteins and actin isoforms as markers for soft tissue tumor differentiation and origin. II. Rhabdomyosarcomas. 327 94

Titin is a major constituent protein of sarcomeric muscles and is thought to give rise to an elastic filament component underlying the myofibrillar organization. Monoclonal antibodies to titin have been characterized on normal and pathological human material and on human cell lines in culture. A positive immunocytochemical reaction was restricted to sarcomeric muscles and did not occur on visceral or vascular smooth muscles or on various nonmuscle tissues. When different tumor types were examined titin antibodies reacted solely with rhabdomyosarcomas and did not react with leiomyosarcoma or leiomyoma, or with the nonmuscle tumor types tested. In rhabdomyosarcomas a noticeably smaller population of cells were positive with antibodies to titin than with antibodies to desmin showing that individual cells within a rhabdomyosarcoma achieve different degrees of myogenic differentiation. The results reinforce the use of desmin as a marker for muscle sarcomas and show that a positive identification of rhabdomyosarcoma can be achieved by immunocytochemistry with the parallel use of desmin and titin antibodies.
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PMID:Monoclonal antibodies to titin in conjunction with antibodies to desmin separate rhabdomyosarcomas from other tumor types. 372 60

Rhabdomyosarcoma is a rare soft tissue neoplasm most commonly encountered in childhood and adolescence which has a predilection for the head and neck area, the genito-urinary tract and the extremities. Primary cutaneous presentation is extremely unusual and has been rarely reported in the literature. Herein, we describe two cases of rhabdomyosarcoma arising in the dermis of a 9-year-old girl and an 86-year-old man. Clinically, the tumours presented as solitary plaque-like or nodular lesions confined to the skin of the nose and chest wall, respectively. Histologically, the tumour in the first patient corresponded to an embryonal rhabdomyosarcoma. The tumour recurred locally four times, and in the last recurrence, showed features resembling those of malignant 'triton' tumour with fascicles of S-100 protein-positive spindle cells admixed with the rhabdomyoblastic components. The tumour in the second patient corresponded to the solid variant of alveolar rhabdomyosarcoma. Immunohistochemical studies in both tumours showed positive labelling for muscle-specific actin, desmin and vimentin. Ultrastructural examination in one case showed clusters of intermediate filaments in the cytoplasm recapitulating abortive sarcomeric structures consistent with rhabdomyoblastic differentiation. Both patients developed repeated recurrences over a period of 2-4 years despite adequate surgical excision, and the second patient had an axillary lymph node metastasis. Primary cutaneous rhabdomyosarcoma should be considered in the evaluation of small 'blue cell' tumours or undifferentiated malignant neoplasms of the skin, and appropriate immunohistochemical studies in conjunction with electron microscopy should be employed for proper evaluation of such lesions.
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PMID:Primary cutaneous sarcomas showing rhabdomyoblastic differentiation. 771 81

In order to investigate whether rhabdomyosarcoma (RMS) can be related to equivalent stages of skeletal muscle development, muscle tissue of 21 human foetuses and 112 primary RMSs were characterized immunohistochemically using antibodies directed against vimentin, desmin, muscle-specific actin (HHF35), sarcomeric actin (sr-actin), smooth muscle actin (sm-actin), and troponin-T. During fetal skeletal muscle development, all myotubes/fibres of the first and second generations expressed desmin, HHF35, and sr-actin. Vimentin was almost exclusively present in immature primary and secondary myotubes/fibres. Troponin-T was expressed in immature myotubes/fibres of the first and second generations as well as mature fibres of the second generation. Sm-actin was never expressed. Vimentin was expressed in 96 per cent of primary and 98 per cent of relapsed RMS; HHF35 in 96 and 98 per cent, respectively; desmin in 95 and 100 per cent; troponin-T in 82 and 75 per cent; sr-actin in 71 and 86 per cent; and sm-actin in 13 and 17 per cent. The proportion of RMS cells reacting with vimentin, HHF35, and desmin was consistently higher than those expressing sr-actin and troponin-T. Neither the shape nor size of neoplastic RMS cells nor the histopathological types were related to the expression pattern of the investigated markers. RMS with aberrant expression of two or more markers predicted a worse prognosis than RMS in which at most one marker was aberrantly expressed (25 per cent and 54 per cent 10-year survival, P = 0.01). These results demonstrate that HHF35, desmin, sr-actin, and troponin-T have the potential to confirm the commitment of the tumours to the myogenic pathway which supports the diagnosis of RMS. However, it was impossible to relate RMS to equivalent stages of skeletal muscle development. Aberrant marker expression by RMS cells correlated significantly with patients' survival.
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PMID:The expression pattern of contractile and intermediate filament proteins in developing skeletal muscle and rhabdomyosarcoma of childhood: diagnostic and prognostic utility. 788 90

Rhabdomyosarcomas occur in adults in one of two forms; as sporadic cases of the juvenile histological types and more commonly, if controversially, as the major adult form, pleomorphic rhabdomyosarcoma. This review documents the historical background to the fluctuating diagnostic popularity of pleomorphic rhabdomyosarcoma, together with a presentation of its defining clinicopathologic characteristics, and presents the clinicopathologic features of the juvenile types as they occur in adults. The concept of pleomorphic rhabdomyosarcoma as a distinct clinicopathologic entity, presenting as an aggressive, predominantly spindle-cell tumor arising in the skeletal musculature of middle-aged adults and defined by the presence of large, pleomorphic tumor cells, which show, at least focally, immunophenotypic or ultrastructural sarcomeric muscle differentiation, is discussed and supported.
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PMID:Rhabdomyosarcoma in adults. 820 46

Currently, pleomorphic rhabdomyosarcoma (RMS) in adults is considered to be extremely rare or nonexistent. The authors have identified 11 cases of pleomorphic RMS using the following criteria: pleomorphic sarcoma occurring within voluntary muscle, large polygonal or strap-like cells with copious eosinophilic cytoplasm, desmin and myoglobin immunoreactivity, or ultrastructural evidence of sarcomeric differentiation. Ten patients were male, the median age at presentation was 56 years (range, 27-84), and the thigh (seven cases) was the most common site. Of eight cases with clinical follow-up, one patient is alive at 20 months, and seven died 2 to 28 months following diagnosis. The tumors were generally patternless, but several had storiform areas. Cross-striations were not identified. Immunostaining for muscle-related antigens was positive as follows: desmin (in 10 of 11 cases), myoglobin (in 10 of 11 cases), actin HHF-35 (in all 11 cases), smooth-muscle actin (in six of eight cases), sarcomeric actin (in six of nine cases), and fast myosin (in five of five cases). Staining for S-100 protein was negative in all cases. On electron microscopy (six cases), two tumors had well-differentiated rhabdomyoblasts with sarcomeres, Z-disks, and hexagonal arrays of myofilaments; three were poorly differentiated; and one contained immature mesenchymal cells only. Pleomorphic RMS can be distinguished from other pleomorphic sarcomas provided that well-fixed tumor tissue is available for immunohistochemical staining and electron microscopy. We consider that this distinction is important in view of the poor prognosis associated with pleomorphic RMS in this series.
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PMID:Pleomorphic rhabdomyosarcoma in adulthood. Analysis of 11 cases with definition of diagnostic criteria. 833 59


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