Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027627 (metastases)
 103,950 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Clear cell sarcoma of tendons and aponeuroses (CCSTA, malignant melanoma of soft parts), first described by Enzinger in 1965, is a rare and slow-growing soft tissue tumor mainly affecting the extremities of young adults. The tumor is believed to be a tumor of melanocyte, although its histogenesis is not definitely established. Here we report 2 cases of CCSTA with typical clinical and pathological features. A tumor grew from the right ankle of a 32-year-old man (case 1) and from the left foot of an 18-year-old woman (case 2). The tumors were deep seated and intimately bound to tendons or aponeuroses without involvement of the overlying skin. Grossly, they were greyish white, variegated with brown or black patches. Histologically, the tumor cells were arranged in nests or fascicles and composed of fusiform or polygonal cells with clear cytoplasm. Ultrastructurally, they consisted of closely apposed cells with intracytoplasmic melanosomes. Case 1 was found to have distant metastases within 6 months and died 1 year later. Case 2 received postoperative radiotherapy and was free of recurrence or metastasis 14 months after operation. The treatment of CCSTA should include radical excision, radiotherapy, and chemotherapy. The prognosis is poor.
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PMID:Clear cell sarcoma of tendons and aponeuroses (malignant melanoma of soft parts): report of 2 cases. 262 35

Clear cell sarcoma of tendons and aponeuroses is a rare, slow-growing malignant tumor arising from the tendons and aponeuroses of the lower extremity, more often in the foot. Although it appears to be a benign tumor, the clear cell sarcoma can be a malignant sarcoma capable of local recurrences or distant metastases. Microscopically, there is a rather distinctive picture characterized by discrete nests and fascicles composed of spindle cells, and a small round-to-ovoid nucleus containing a central prominent basophilic nucleolus. Since there is some controversy over the best way to treat this disease, and since its histogenesis is still unknown, the authors elected to report the case of a 28-year-old white male for three reasons: first, to illustrate that the tumor is of neural crest derivation; second, to show that an ultrastructural evaluation of the tumor is imperative in some cases; and lastly, to suggest that amputation is the treatment of choice in localized disease.
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PMID:Clear cell sarcoma of tendons and aponeuroses: histogenesis and mode of treatment. 273 90

Clear cell sarcoma of tendons and aponeuroses (malignant melanoma of soft parts) and conventional malignant melanoma may demonstrate significant morphologic overlap at the light microscopic and ultrastructural level. Consequently, the clinically relevant distinction between primary clear cell sarcoma and metastatic melanoma in the absence of a known primary cutaneous, mucosal or ocular tumour may occasionally cause diagnostic problems. A balanced translocation, t(12;22)(q13;q13), which can be detected, amongst others, using the reverse transcriptase polymerase chain reaction (RT-PCR) or fluorescent in situ hybridization (FISH), has been identified in a high percentage (50-75%) of clear cell sarcomas and is presumed to be tumour specific. Whether this chromosomal rearrangement is present in malignant melanoma has, to date, not as yet been studied by molecular genetic or molecular cytogenetic techniques. Using RT-PCR and FISH, a series of metastases from 25 known cutaneous melanomas and 8 melanoma cell lines (5 uveal and 3 cutaneous) were screened for the t(12;22)(q13;q13) translocation. Primers for RT-PCR were chosen based upon published breakpoint sequences. The Cosmids G9 and CCS2.2, corresponding to the 5' region of EWS and 3' region of ATF-1 respectively, were used as probes. The translocation was not identified in any of the melanomas or melanoma cell lines analysed in this study; in contrast this translocation was identified in 3 out of 5 clear cell sarcomas using these techniques. This allows distinction between translocation positive cases of clear cell sarcoma and malignant melanoma at a molecular genetic level. Consequently, in diagnostically challenging cases, this represents a valuable tool for the clinicopathologic differentiation between these two entities, with an important impact on patient management and prognosis.
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PMID:Malignant melanoma is genetically distinct from clear cell sarcoma of tendons and aponeurosis (malignant melanoma of soft parts). 1120 50

We report the first case of metastatic clear cell sarcoma with dramatic response to DAV treatment (DTIC + ACNU + VCR). Clear cell sarcoma of tendons and aponeuroses, or malignant melanoma of soft parts, is a rare tumour that occurs predominantly in the extremities of young adults. It tends to recur locally or metastasize and the prognosis is poor. Although the importance of surgery has been established, the role of adjuvant chemotherapy has yet to be determined. DAV should be considered as a first-line palliative treatment in disseminated disease as well as adjuvant therapy after surgery of primary clear cell sarcoma.
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PMID:Complete remission of metastatic clear cell sarcoma with DAV chemotherapy. 1255 22

Clear cell sarcoma of tendons and aponeuroses (CCS) is an uncommon malignancy characterized by a t(12;22)(q13;q12) causing a fusion of the EWS and ATF1 genes. We describe the cytogenetic and molecular genetic analyses of two lung metastases from a CCS patient. Both lesions presented the defining t(12;22) and a type 1 EWS/ATF1 chimeric transcript. The additional cytogenetic changes present in the two lesions allowed us to obtain some insight into the pathogenetic basis of disease progression. Four related clones were identified in the right lung metastasis, permitting a partial reconstitution of the stepwise clonal evolution, whereas the left lung metastasis presented yet another subclone. The comparison of the two karyotypes enabled us to pinpoint which changes occurred in the primary tumor and which emerged independently after the two metastases had been established. We conclude that both clonal divergence and convergence may be operative during tumor progression of CCS.
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PMID:Karyotypic divergence and convergence in two synchronous lung metastases of a clear cell sarcoma of tendons and aponeuroses with t(12;22)(q13;q12) and type 1 EWS/ATF1. 1293 23

Clear cell sarcoma of tendons and aponeuroses is a unique sarcoma initially described by Dr Franz M. Enzinger. The tumor has a proclivity to involve the tendons and aponeuroses of distal extremities of relatively young individuals and is characterized by multiple local recurrences with late metastases and a high rate of tumor deaths. Since its seminal description in 1965, there have been many studies verifying the uniqueness of this entity and probing its differentiation. Ultrastructural and immunohistochemical studies have shown melanocytic differentiation, whereas molecular genetic studies have shown cytogenetic rearrangements resulting in a EWSR1-ATF1 fusion gene that is characteristic but not entirely unique for clear cell sarcoma (similar fusion genes are also seen in angiomatoid fibrous histiocytoma). Detection of this fusion gene and the absence of BRAF gene mutations clearly distinguish clear cell sarcoma from cutaneous melanoma. Adverse prognostic factors identified to date include larger tumor size and any microscopic tumor necrosis. Surgery is the mainstay of treatment for this high grade sarcoma, with chemotherapy having little effect. Although the melanocytic differentiation of clear cell sarcoma is indisputable, its precise lineage remains unclear. Thus, clear cell sarcoma maintains the status of a unique yet enigmatic clinicopathologic entity of ever increasing complexity 40 years after its original description by an extraordinarily gifted man.
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PMID:Clear cell sarcoma of tendons and aponeuroses: a historical perspective and tribute to the man behind the entity. 1707 94

Clear cell sarcoma of tendons and aponeuroses, also referred to as malignant melanoma of soft parts, is a rare malignancy derived from neural crest cells. It usually presents in the distal lower extremities of young adults, frequently attached to tendons or aponeuroses. It behaves like a high-grade soft tissue sarcoma and is associated with poor overall survival. Magnetic resonance imaging studies of the lesion reveal T1 hypointensity, T2 hyperintensity, and gadolinium uptake. Grossly, the tumor is usually circumscribed with a histologic pattern of uniform polygonal to fusiform cells with clear to pale eosinophilic cytoplasm divided into variably sized clusters by fibrous septa. Immunohistochemical studies in most cases show that the neoplastic cells are positive with HMB-45 and react with antibody against S100 protein. Most cases show a reciprocal cytogenetic translocation t(12;22)(q13;q12) that creates a unique chimeric fusion EWSR1/ATF1 gene transcript. Metastasis occurs mainly to regional lymph nodes and lungs. Poor prognostic indicators include a tumor size equal to or more than 5 cm, presence of metastasis, and necrosis. The mainstay of treatment is wide excision of the tumor. The use of sentinel lymph node biopsy may become an important procedure in detecting occult regional metastasis and guiding the extent of surgery. The beneficial effects of adjuvant chemotherapy and radiotherapy have not been fully evaluated. This article provides a short overview of the current knowledge of clear cell sarcoma of tendons and aponeuroses.
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PMID:Clear cell sarcoma of tendons and aponeuroses: a review. 1722 18