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)

Sarcomas of the head and neck are rare. They present a challenge to the head and neck oncologist that is frequently quite different from that found in epithelial, salivary, and endocrine malignancies of the head and neck. The focus of this article is on diagnostic criteria, prognostic indicators, and therapy, and due to the large number of lesions, an in-depth review of the commonest: osteosarcoma (OS), chondrosarcoma (CS), rhabdomyosarcoma (RMS), fibrosarcoma (FS), malignant fibrous histiocytoma (MFH), and synovial sarcoma (SS). Less common variants will also be mentioned. Twelve cases are presented, consisting of OS(2), RMS(1), CS(3), MFH(2), SS(2), FS(1), and miscellaneous(1). Conclusions consist of an enunciation of the general principles of management of sarcoma of the head and neck.
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PMID:Head and neck sarcomas: a review. 881 2

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.
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PMID:Relevance of cytogenetic and fluorescent in situ hybridization analyses in the clinical assessment of soft tissue sarcoma. 902 92

Characteristic chromosome aberrations and the rearranged genes resulting in chimeric fusion genes have been reported in some bone and soft tissue tumors; t(X; 18) in synovial sarcoma, t(11; 22) in Ewing's sarcoma and primitive neuroectodermal tumor, and t(2; 13) in alveolar rhabdomyosarcoma. We practically used the chromosome analysis and the reverse transcription-polymerase chain reaction (PCR) method as a tool for diagnosis and follow up. All of 10 cases of synovial sarcoma had a chimeric product of SYT/SSX gene. Eleven cases of Ewing's sarcoma and primitive neuroectodermal tumor showed 6 variants of chimeric products between EWS gene and Fli1 gene in the PCR-directed sequence analysis. Although PAX3/FKHD or PAX7/FKHD transcripts were amplified in alveolar rhabdomyosarcoma cases, MyoD1 and myogenin gene which are myogenic transcription factor were also expressed in most rhabdomyosarcomas. These findings indicate that molecular biological analysis may be a useful supplementary method for pathologic diagnosis of bone and soft tissue tumors.
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PMID:[Pathologic diagnosis on bone and soft tissue tumors by molecular biological methods]. 925 13

Soft tissue sarcomas (STS) arising in the foot are rare in children. From 1975 to 1994, 18 children (median age, 13.5 years) were treated at St Jude Children's Research Hospital for STS of the foot. Five children had rhabdomyosarcoma (RMS), with alveolar histology in four cases. All of these patients presented with metastatic disease, which proved fatal within 9 to 24 months despite combined modality treatment with chemotherapy, radiation, and surgery. Thirteen patients had nonrhabdomyosarcoma soft tissue sarcoma (NRSTS). The most common histological variant was synovial sarcoma (7 patients). Of the 10 who presented with localized disease, seven survived 1 to 12 years (median, 7 years). Surgical treatment for these consisted of local excision (n = 2), wide local excision (n = 3), below knee amputation (n = 1 ), ray amputation (n = 1). Three received supplemental radiation, and one was also treated with chemotherapy. Local or distant recurrence proved fatal in the three other children who had localized disease. Three children who presented with metastatic NRSTS died 8 to 14 months after diagnosis. All surviving patients are without significant functional disability. In our experience, pediatric RMS of the foot has a poor outcome, attributable to both alveolar histology and presence of metastatic disease at diagnosis. In contrast, NRSTS of the foot is more often localized, and limited surgery with adjuvant radiation in the absence of clear margins should be the treatment of choice.
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PMID:Outcome of treatment for pediatric sarcoma of the foot: a retrospective review over a 20-year period. 926 66

During the past two decades we have witnessed the identification of an expanding list of immunohistochemical and molecular markers linked to histopathologically defined subtypes of tumors. These markers offer new insights and approaches to the classification of tumors with important prognostic and/or therapeutic implications. We review the potentially diagnostic immunohistochemical and molecular markers of soft tissue tumors (STTs). The immunohistochemical markers reviewed include vimentin, cytokeratin, desmin, HHF35, S100, myoD1, alpha1-antitrypsin, vascular markers (factor VIII, CD31, CD34), MIC2, and others. The potentially diagnostic chromosomal translocations and associated genes identified in STT include Ewing's/PNET t(11;22)(q24;q12)(FLI1;EWS), t(21;22)(q22;q12)(ERG; EWS); t(7;22)(p22;q12)(ETV1;EWS); desmoplastic small round cell tumor t(11;22)(p13;q12)(WT1;EWS); extraskeletal myxoid chondrosarcoma t(9;22)(q22;q12) (TEC(CHN);EWS); malignant ectomesenchymoma t(11;22)(q24;q12)(FLI1;EWS); alveolar rhabdomyosarcoma t(2;13)(q35;q14)(PAX-3;FKHR); t(1;13) (p36;q14)(PAX-7;FKHR); myxoid and round cell liposarcoma t(12;16)(q13;p11)(CHOP;TLS(FUS)); synovial sarcoma t(X;18)(p11;q11)(SSX1&2;SYT), and others. The nature, utility, and limitations of these markers in diagnostic settings are explored.
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PMID:Immunohistochemical and molecular genetic approaches to soft tissue tumor diagnosis: a primer. 934 17

Heart neoplasms are of increasing interest among clinicians and surgeons. A review of primary malignant cardiac tumors, secondary cardiac tumors and carcinoid heart tumors is presented, with special reference to their pathological and surgical aspects. Primary malignant heart tumors represent about 25% of all cardiac tumors, the great majority are sarcomas and the whole family of this group is described including angiosarcoma, rhabdomyosarcoma, fibrosarcoma, leiomyosarcoma, liposarcoma, neurogenic sarcoma, synovial sarcoma and osteosarcoma; mesothelioma, lymphoma, malignant teratoma and thymoma are also included. Metastatic heart tumors are 20-40 times more common than primary malignancies, their behavior and more relevant aspects in diagnostic and surgical therapy are mentioned. Carcinoid heart tumors represent a distinctive entity and are discussed individually.
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PMID:[Cardiac tumors (II). Malignant primary tumors. Metastatic tumors. Carcinoid tumor]. 954 34

The field of molecular genetics continues to see an ever increasing number of applications to pediatric tumor analysis. Studies in pediatric tumors have identified novel genes and other genetic changes, a large number of which reflect one of the following mechanisms: (1) activation of proto-oncogenes; (2) loss of tumor suppressor genes; or (3) creation of novel fusion proteins. At least one of these mechanisms is operational in each of the following pediatric tumors: neuroblastoma, Ewing sarcoma and peripheral primitive neuroectodermal tumor (pPNET), intra-abdominal desmoplastic small-cell tumor, rhabdomyosarcoma, synovial sarcoma, and Wilms tumor. Out of this research has come not only an increased understanding of oncogenesis but also, for each of the tumors listed above, diagnostic and/or prognostic markers that can be used by the pathologist and oncologist to improve overall patient management.
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PMID:Molecular genetics in the diagnosis and prognosis of solid pediatric tumors. 968 59

The use of fine-needle aspiration biopsy (FNAB) in the initial evaluation of pediatric bone and soft tissue tumors is controversial, especially for those patients being considered for histiogenetic-specific therapeutic protocols, e.g., the Intergroup Rhabdomyosarcoma Study Group, the Pediatric Oncology Group. We retrospectively reviewed 33 consecutive FNAB specimens (28 primary tumors, 5 metastases) from 32 pediatric patients (< or = 19 yr of age), none of whom had a previously established tumor diagnosis. In one patient, FNAB of the primary tumor and a presumed axillary metastasis were obtained concomitantly. The cytomorphologic analysis included osteosarcoma, eight patients; rhabdomyosarcoma, five; neuroblastoma, five; Ewing's sarcoma/primitive neuroectodermal tumor, four; Langerhans' cell histiocytosis, three; and one each synovial sarcoma, undifferentiated sarcoma, infantile myofibromatosis, fibroma, chondroblastoma, chondromyxoid fibroma, and desmoplastic small round-cell tumor. Ancillary studies, e.g., immunocytochemical analysis, were used in 13 cases. Cytogenetic analysis helped to confirm one Ewing's sarcoma [t (11;22) (q24;q12)] and one synovial sarcoma [t(X;18) (p11;q11)]. With adequate FNAB specimens, a histogenetic-specific diagnosis was rendered in 27 (93%) of 29 cases, and all were correctly recognized as either benign or malignant. One case each of Langerhans' cell histiocytosis, chondroblastoma, and infantile myofibromatosis yielded unsatisfactory specimens. Fibroma and desmoplastic small round-cell tumor were initially misclassified as nodular fasciitis and rhabdomyosarcoma, respectively. Of 18 patients clinically eligible for histogenetic-specific therapy protocols, an accurate diagnosis was obtained in 17 patients. With a multidisciplinary approach and judicious use of ancillary studies, FNAB represents a highly accurate and cost-effective technique for the diagnosis of pediatric bone and soft tissue tumors, especially sarcomas, and should be considered as a viable diagnostic technique for pediatric therapeutic protocols.
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PMID:The role of fine-needle aspiration biopsy in the initial diagnosis of pediatric bone and soft tissue tumors: an institutional experience. 979 16

The WT1 gene is normally expressed in fetal kidney and mesothelium, and its expression has been suggested as a marker for Wilms tumor and mesothelioma. We examined WT1 expression levels by reverse-transcriptase polymerase chain reaction (RT-PCR) in 38 childhood small-cell tumors including Wilms tumor, embryonal and alveolar rhabdomyosarcoma, Ewing sarcoma, lymphoma, desmoplastic small round-cell tumor (DSRCT), synovial sarcoma, extrarenal rhabdoid tumor, and two tumors that were atypical for this group of tumors. WT1 expression was only detected in Wilms tumor, rhabdoid tumor, and in these two cases of uncertain histogenesis. Both arose in the peritoneal cavity and by immunohistochemistry were diffusely positive for vimentin, keratin, and desmin. Tonofilaments were identified by electron microscopy in one of the cases. RT-PCR failed to detect the t(11;22) translocation associated with DSRCT in either case. Our results suggest that WT1 expression is an unusual feature of childhood non-Wilms tumors and, in the right setting, it may indicate a mesothelial origin. The expression of WT1 may play a role in mesodermal cells acquiring epithelial characteristics, a concept supported by the mixed epithelial and mesenchymal phenotype of these two cases.
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PMID:Expression of WT1 in pediatric small cell tumors: report of two cases with a possible mesothelial origin. 984 4

To determine the usefulness of microsatellite analysis in the differential diagnosis of various sarcomas, we investigated microsatellite alterations at 12 microsatellite loci by polymerase chain reaction and electrophoresis in 39 Japanese patients with sarcomas. The sarcomas were: osteosarcoma, Ewing's sarcoma, chondrosarcoma, liposarcoma, leiomyosarcoma, epithelioid leiomyosarcoma, rhabdomyosarcoma, synovial sarcoma, and malignant fibrous histiocytoma. We also examined ten leiomyomas to contrast with leiomyosarcoma. No microsatellite instability (MSI) or loss of heterozygosity (LOH) were found in Ewing's sarcoma, chondrosarcoma, epithelioid leiomyosarcoma, malignant fibrous histiocytoma, and leiomyoma. Only three patients, one each with liposarcoma, leiomyosarcoma, and synovial sarcoma, manifested MSI, whereas, osteosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and synovial sarcoma manifested LOH, with an incidence of 43%, 14%, 86%, 20%, and 75%, respectively. Interestingly, three patients showed unusual patterns of LOH, probably due to intratumoral heterogeneity. Kaplan-Meier analysis revealed that LOH on 11p was predictive of poor prognosis in osteosarcoma. The low incidence of MSI indicates that MSI is not necessary for neoplastic transformation in sarcomas. However, the very high incidence of LOH in leiomyosarcoma indicates that microsatellite analysis may serve for the differential diagnosis of leiomyosarcoma versus leiomyoma. Microsatellite analysis may also predict prognosis in osteosarcoma.
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PMID:Microsatellite alterations in various sarcomas in Japanese patients. 1037 Jan 64


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