|
Clear Cell Sarcoma of Soft Tissue
|
0.400 |
Biomarker
|
disease |
BEFREE |
Gene fusions of Ewing sarcoma breakpoint region 1 (EWSR1) with members of the cAMP response element-binding protein family (CREB) of transcription factors (CREB1, activating transcription factor 1 (ATF1), and cAMP response element modulator (CREM)) have been described in histopathologically diverse mesenchymal neoplasms such as AFH, hyalinising clear cell carcinomas of salivary glands, primary pulmonary myxoid sarcoma, and clear cell sarcoma.
|
31139520 |
2019 |
|
Clear Cell Sarcoma of Soft Tissue
|
0.400 |
Biomarker
|
disease |
BEFREE |
Although some investigators argue that CMCT is a variant of CCS, we think it should be separated from CCS, and subcutaneous/dermal CCS should be confined to tumors with EWSR1-ATF1/ CREB1 fusion.
|
31276279 |
2019 |
|
Clear Cell Sarcoma of Soft Tissue
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In the new review all the tumors were re-classified as, ES (n=16), Ewing-like tumor with EWSR1 rearrangement and amplification and possible EWSR1-NFATC2 gene fusion (n=1), CIC-rearranged sarcomas or undifferentiated sarcoma, most consistent with CIC-rearranged sarcoma (n=7), sarcoma with BCOR-alteration or undifferentiated sarcoma, consistent with BCOR-associated sarcoma (n=3), neuroblastoma (n=2), unclassifiable neoplasm with neuroblastic differentiation (n=1), malignant rhabdoid tumor (n=2), lymphoblastic lymphoma (n=1), clear cell sarcoma of the gastrointestinal tract (n=1), small cell carcinoma (n=1), sclerosing rhabdomyosarcoma (n=1), desmoplastic small round cell tumor (n=1), malignant peripheral sheath nerve tumor (n=1), poorly-differentiated synovial sarcoma (n=1), Possible gastrointestinal stromal tumor/GIST with predominant round cells (n=1) and possible SMARCA4-deficient-sarcoma (n=1).
|
29661713 |
2018 |
|
Clear Cell Sarcoma of Soft Tissue
|
0.400 |
Biomarker
|
disease |
BEFREE |
RT-PCR was performed in 8 available cases, including 6 CCSSTs and 2 CCSLGTs.All CCSSTs showed EWSR1-ATF1 fusions.
|
30219084 |
2018 |
|
Clear Cell Sarcoma of Soft Tissue
|
0.400 |
Biomarker
|
disease |
BEFREE |
Given the high specificity of the EWSR1 FISH assay and significant complexity in the diagnosis of CCS, this ancillary study is helpful in distinguishing CCS from melanoma.
|
30155908 |
2018 |
|
Clear Cell Sarcoma of Soft Tissue
|
0.400 |
Biomarker
|
disease |
BEFREE |
Recurrent gene fusions involving EWSR1 with members of the cAMP response element binding protein (CREB) family (ATF1 and CREB1) have been reported in a diverse group of tumors including angiomatoid fibrous histiocytoma (AFH), soft tissue and gastrointestinal clear cell sarcoma, primary pulmonary myxoid sarcoma, and hyalinizing clear cell carcinoma of salivary gland.
|
28009602 |
2017 |
|
Clear Cell Sarcoma of Soft Tissue
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
EWSR1 rearrangements were first identified in Ewing sarcoma, but the spectrum of EWSR1-rearranged neoplasms now includes many soft tissue tumour subtypes including desmoplastic small round cell tumour (DSRCT), myxoid liposarcoma (MLPS), extraskeletal myxoid chondrosarcoma (EMC), angiomatoid fibrous histiocytoma (AFH), clear cell sarcoma (CCS) and myoepithelial neoplasms.
|
28141799 |
2017 |
|
Clear Cell Sarcoma of Soft Tissue
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The genetic cause for CCS is thought to be EWSR1 gene translocation.
|
27109316 |
2016 |
|
Clear Cell Sarcoma of Soft Tissue
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Dual color, break-apart interphase FISH revealed EWS(22q12) gene rearrangements in CCS tumor cells.
|
25312298 |
2014 |
|
Clear Cell Sarcoma of Soft Tissue
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
All 15 (100%) Ewing sarcomas/PNET and 4 clear cell sarcomas (4/4) harbored EWSR1 translocations.
|
25446247 |
2014 |
|
Clear Cell Sarcoma of Soft Tissue
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Clear cell sarcoma (CCS) of tendons and aponeuroses, also known as melanoma of soft parts, represents an aggressive rare malignancy that is characterized by a nested or fascicular pattern of spindled cells and a pathognomonic reciprocal translocation, t(12;22)(q13;q12), that results in the fusion of EWSR1 and ATF1 genes.
|
23228147 |
2013 |
|
Clear Cell Sarcoma of Soft Tissue
|
0.400 |
Biomarker
|
disease |
BEFREE |
We examined EWSR1-ATF1 and EWSR1-CREB1 fusions in a single case of clear cell sarcoma with lung metastasis in a 36-year-old Japanese man.
|
23953591 |
2013 |
|
Clear Cell Sarcoma of Soft Tissue
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Rearrangements of the EWSR1 gene are found in an increasing number of human neoplasms, including several tumors that can involve the skin: Ewing sarcoma/primitive neuroectodermal tumor, angiomatoid (malignant) fibrous histiocytoma, myoepithelioma of soft tissue, and clear cell sarcoma.
|
23399793 |
2013 |
|
Clear Cell Sarcoma of Soft Tissue
|
0.400 |
Biomarker
|
disease |
BEFREE |
Fluorescence in situ hybridization confirmed Ewing's sarcoma breakpoint region 1 (EWSR1) rearrangement in 70% of the tumor cells, thereby supporting the diagnosis of metastatic CCS.
|
23980901 |
2013 |
|
Clear Cell Sarcoma of Soft Tissue
|
0.400 |
Biomarker
|
disease |
BEFREE |
The sequencing of obtained fragments revealed the presence of a novel chimerical transcript-the in-frame fusion between EWSR1 exon 7 and ATF1 exon 6 that represents the fourth in-frame type of EWSR1/ATF1 fusion identified in clear cell sarcomas.
|
22886438 |
2012 |
|
Clear Cell Sarcoma of Soft Tissue
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
In this study, we performed mutation analysis of BRAF and NRAS, investigated the EWSR1 gene rearrangement and evaluated the protein expression of insulin-like growth factor 2 and insulin-like growth factor 1R in 31 cases of malignant melanoma and 16 cases of clear cell sarcoma.
|
22406360 |
2012 |
|
Clear Cell Sarcoma of Soft Tissue
|
0.400 |
Biomarker
|
disease |
BEFREE |
We report for the first time a female patient with CCS exhibiting both EWSR1-ATF1 fusion transcripts and hereditary homozygous point mutations in introns 11 and 16 of the KIT gene.
|
22559980 |
2012 |
|
Clear Cell Sarcoma of Soft Tissue
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our results show that BRAF mutation can also be present in CCS and support the proposed aberration of chromosomes 22 and 8 as a possibly useful nonrandom hallmark of EWSR1- CCS.
|
22045652 |
2012 |
|
Clear Cell Sarcoma of Soft Tissue
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The SEER database was queried to find cases of mesenchymal tumors associated with EWSR1 translocations: Ewing sarcoma; clear cell sarcoma; extraskeletal myxoid chondrosarcoma; myxoid liposarcoma; desmoplastic small round cell tumor; and myoepithelial tumor.
|
21212061 |
2011 |
|
Clear Cell Sarcoma of Soft Tissue
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Two patients were classified as CCS with EWS gene rearrangement, with a mean of 67.5% positive cells per sample according to break-apart FISH.
|
20712646 |
2010 |
|
Clear Cell Sarcoma of Soft Tissue
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Clear cell sarcoma (CCS) of tendons and aponeuroses/malignant melanoma (MM) of soft parts is a rare tumor and in the majority of cases presents a characteristic reciprocal translocation t(12;22)(q13;q12) that results in fusion of the EWS and ATF1 genes.
|
20087159 |
2010 |
|
Clear Cell Sarcoma of Soft Tissue
|
0.400 |
Biomarker
|
disease |
BEFREE |
EWSR1 FISH was sensitive among high-grade round cell sarcomas (positive in 100% of desmoplastic small round cell tumors and 96% of Ewing sarcoma/primitive neuroectodermal tumors) but not specific because clear cell sarcoma, extraskeletal myxoid chondrosarcoma, and a subset of round cell liposarcomas also harbor rearrangements of EWSR1.
|
21128778 |
2010 |
|
Clear Cell Sarcoma of Soft Tissue
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Bilateral salpingo-oophorectomy was performed and the light microscopic and immunohistochemical findings coupled with the detection of an EWSR1 rearrangement by fluorescence in situ hybridization were compatible with a diagnosis of CCSST metastases to the ovaries.
|
19620941 |
2009 |
|
Clear Cell Sarcoma of Soft Tissue
|
0.400 |
FusionGene
|
disease |
ORPHANET |
Consequently, both techniques are equally effective in assessing for an EWSR1 rearrangement and are useful ancillary diagnostic tests for clear cell sarcoma.
|
19561568 |
2009 |
|
Clear Cell Sarcoma of Soft Tissue
|
0.400 |
Biomarker
|
disease |
BEFREE |
Consequently, both techniques are equally effective in assessing for an EWSR1 rearrangement and are useful ancillary diagnostic tests for clear cell sarcoma.
|
19561568 |
2009 |