|
Alveolar Soft Part Sarcoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Molecular confirmation of ASPSCR1-TFE3 gene fusion is applicable to routinely processed archival and diagnostic tumour samples and aids in the differential diagnosis of ASPS.
|
17543078 |
2007 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Molecular cytogenetic analysis for TFE3 rearrangement in Xp11.2 renal cell carcinoma and alveolar soft part sarcoma: validation and clinical experience with 75 cases.
|
23828314 |
2014 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Oncogenic TFE3 fusion proteins define a subset of pediatric renal adenocarcinomas and one fusion (ASPL-TFE3) is also characteristic of alveolar soft part sarcoma (ASPS).
|
17283122 |
2007 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
One tumor, currently at passage 6, has been maintained in vivo for 32 months and has maintained characteristics consistent with those of the original ASPS tumor including (1) tumor histology and staining with periodic acid Schiff/diastase, (2) the presence of the ASPL-TFE3 type 1 fusion transcript, (3) nuclear staining with antibodies to the ASPL-TFE3 type 1 fusion protein, (4) maintenance of the t(X;17)(p11;q25) translocation characteristic of ASPS, (5) stable expression of signature ASPS gene transcripts and finally, the development and maintenance of a functional vascular network, a hallmark of ASPS.
|
19636271 |
2009 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our results demonstrate that the most sensitive marker of alveolar soft part sarcoma was the presence of the ASPSCR1-TFE3 fusion transcript.
|
21835426 |
2012 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Protein TFE3 and fusion gene ASPS-TFE3 were tested in paraffin to explore diagnostic strategy and molecular pathological features.
|
28766250 |
2018 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Real-time quantitative polymerase chain reaction testing confirmed the presence of ASPSCR1-TFE3 fusion transcripts, characteristic of the translocation t(X;17) p(11.2;q25) observed in ASPS.
|
30744536 |
2020 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recently, a small subgroup of PEComas has been recognized to harbor rearrangements involving TFE3, a gene also involved in rearrangements in translocation-associated renal cell carcinomas and alveolar soft part sarcomas.
|
23797724 |
2013 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Renal carcinomas associated with Xp11.2 translocations that result in fusions involving the TFE3 transcription factor gene have been delineated, including a distinctive neoplasm that shares the identical gene fusion as alveolar soft part sarcoma.
|
12973047 |
2003 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Reverse transcriptase PCR using a forward primer from ASPL and a TFE3 exon 4 reverse primer detected an ASPL-TFE3 fusion transcript in all ASPS cases (12/12: 9 type 1, 3 type 2), establishing the utility of this assay in the diagnosis of ASPS.
|
11244503 |
2001 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The current report describes a unique case of vulvovaginal alveolar soft part sarcoma showing the classic morphologic features with documentation of TFE3 protein expression and the ASPL-TFE3 gene rearrangement.
|
24681737 |
2014 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The high expression of MET in ASPL-TFE3 (+) ASPS may further support the potential role of targeted agents against MET in this rare, chemoresistant tumor.
|
19472090 |
2010 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The molecular signature of ASPS is a specific der(17)t(X;17)(p11.2;q25) translocation, which results in the fusion of TFE3 transcription factor gene at Xp11.2 with ASPL at 17q25.
|
26369552 |
2015 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The participation of the ASPL-TFE3 chimeric gene, translocation (X; 17) (p11; q25), has been demonstrated in ASPS.
|
21519815 |
2011 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The resulting gene fusions involve the TFE3 transcription factor gene and multiple reported genes, including the same one (ASPL) found in the characteristic gene fusion of alveolar soft part sarcoma.
|
20438411 |
2010 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The study objective was to develop and validate a TFE3 break-apart fluorescence in situ hybridization (FISH) assay to confirm Xp11 translocation RCCs and ASPS.
|
26415891 |
2015 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These cells grew slowly and were expanded over a period of 3 years and have maintained characteristics consistent with those of both the original ASPS tumor from the patient and the xenograft tumor including (1) presence of the alveolar soft part locus-transcription factor E3 type 1 fusion transcript and nuclear expression of the alveolar soft part locus-transcription factor E3 type 1 fusion protein; (2) maintenance of the t(X;17)(p11;q25) translocation characteristic of ASPS; and (3) expression of upregulated ASPS transcripts involved in angiogenesis (ANGPTL2, HIF-1-α, MDK, c-MET, VEGF, and TIMP-2), cell proliferation (PRL, PCSK1), metastasis (ADAM9), as well as the transcription factor BHLHB3 and the muscle-specific transcripts TRIM63 and ITGβ1BP3.
|
21552147 |
2011 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
These include a distinctive RCC that bears a translocation with the identical chromosomal breakpoints (Xp11.2, 17q25) and identical resulting ASPL-TFE3 gene fusion as alveolar soft part sarcoma.
|
20073616 |
2010 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Thirty-nine of 40 neoplasms characterized by TFE3 gene fusions (19 of 19 alveolar soft part sarcoma, 20 of 21 renal carcinomas) demonstrated moderate or strong nuclear TFE3 immunoreactivity.
|
12766578 |
2003 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Translocations of TFE3 occur in specific subsets of human renal cell carcinomas and in alveolar soft part sarcomas.
|
12719541 |
2003 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Ultrastructurally, the ASPL-TFE3 RCC variant contains rhomboid crystals in the cytoplasm, similar to that observed in alveolar soft part sarcoma.
|
22207547 |
2012 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
We conclude that immuno-detection of TFE3 and RT-PCR-based identification of ASPL/TFE3 fusion transcripts in formalin-fixed, paraffin-embedded tissues are powerful tools in the diagnosis of ASPS, particularly in cases with unusual morphologic features.
|
21279521 |
2011 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
We here report an interesting and challenging case of malignant PEComa that showed transcription factor E3 (TFE3) protein expression and rearrangement, paucity of muscle and melanocytic marker expression, and morphologically mimicked alveolar soft part sarcoma.
|
29208563 |
2018 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We performed immunohistochemistry for cathepsin K on 14 genetically confirmed t(X;1)(p11;q21) carcinomas, harboring the PRCC-TFE3 gene fusion; eight genetically confirmed t(X;17)(p11;q25) carcinomas, harboring the ASPSCR1-TFE3 gene fusion; and 18 alveolar soft part sarcomas (12 genetically confirmed), harboring the identical ASPSCR1-TFE3 gene fusion.
|
21602817 |
2011 |