|
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 |
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 |
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 |
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 |
ASPSCR1-TFE3 fusion transcripts were identified in 16 of 18 ASPS samples.
|
18094412 |
2007 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
It is characterized by a specific chromosomal alteration, der(17)t(X:17)(p11:q25), resulting in fusion of the transcription factor E3 (TFE3) with alveolar soft part sarcoma critical region 1 (ASPSCR1) at 17q25.
|
26516944 |
2015 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Eleven cases with an initial diagnosis of ASPS at female genital tract sites were evaluated for their morphologic features and immunoprofile using a panel of antibodies (TFE3, HMB45, melan-A, smooth muscle actin, desmin, and h-Caldesmon).
|
28009610 |
2017 |
|
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 |
TFE3 fluorescence in situ hybridization was positive in all tested ASPS and Xp11-RCC.
|
30851332 |
2019 |
|
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 |
Both Xp11.2 translocation renal cell carcinoma (RCC) and alveolar soft part sarcoma (ASPS) are characterized by various translocations disrupting chromosome Xp11.2, which result in gene fusions involving the TFE3 transcription factor gene.
|
20421778 |
2010 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, among neoplasms with the SFPQ-TFE3, NONO-TFE3, DVL2-TFE3, and ASPL-TFE3 gene fusions, the RCCs are almost always PAX8 positive, cathepsin K negative by immunohistochemistry, whereas the mesenchymal counterparts (Xp11 translocation PEComas, melanotic Xp11 translocation renal cancers, and alveolar soft part sarcoma) are PAX8 negative, cathepsin K positive.
|
26975036 |
2016 |
|
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 |
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 |
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 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the first systematic study applying TFE3 immunoassay and ASPL-TFE3 fusion transcript detection to archival paraffin-embedded tissues in a large Chinese ASPS patient population.
|
18382356 |
2008 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
At the molecular level RT-PCR and sequencing analysis demonstrated ASPCR1-TFE3 fusion confirming the histological diagnosis of ASPS.
|
18713311 |
2009 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Alveolar soft part sarcoma (ASPS), a deadly soft tissue malignancy with a predilection for adolescents and young adults, associates consistently with t(X;17) translocations that generate the fusion gene ASPSCR1-TFE3.
|
25453902 |
2014 |
|
Alveolar Soft Part Sarcoma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Alveolar soft-part sarcoma (ASPS) is a morphologically distinctive mesenchymal tumor characterized by a canonical ASPL-TFE3 fusion product.
|
30018044 |
2018 |
|
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 |
Biomarker
|
disease |
BEFREE |
Translocations of TFE3 occur in specific subsets of human renal cell carcinomas and in alveolar soft part sarcomas.
|
12719541 |
2003 |