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Novel SS18‐NEDD4 gene fusion in a primary renal synovial sarcoma
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| Zeitschriftentitel: | Genes, Chromosomes and Cancer |
|---|---|
| Personen und Körperschaften: | , , , , , , |
| In: | Genes, Chromosomes and Cancer, 59, 2020, 3, S. 203-208 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
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| Schlagwörter: |
| author_facet |
Argani, Pedram Zhang, Lei Sung, Yun‐Shao Bacchi, Carlos Swanson, David Dickson, Brendan C. Antonescu, Cristina R. Argani, Pedram Zhang, Lei Sung, Yun‐Shao Bacchi, Carlos Swanson, David Dickson, Brendan C. Antonescu, Cristina R. |
|---|---|
| author |
Argani, Pedram Zhang, Lei Sung, Yun‐Shao Bacchi, Carlos Swanson, David Dickson, Brendan C. Antonescu, Cristina R. |
| spellingShingle |
Argani, Pedram Zhang, Lei Sung, Yun‐Shao Bacchi, Carlos Swanson, David Dickson, Brendan C. Antonescu, Cristina R. Genes, Chromosomes and Cancer Novel SS18‐NEDD4 gene fusion in a primary renal synovial sarcoma Cancer Research Genetics |
| author_sort |
argani, pedram |
| spelling |
Argani, Pedram Zhang, Lei Sung, Yun‐Shao Bacchi, Carlos Swanson, David Dickson, Brendan C. Antonescu, Cristina R. 1045-2257 1098-2264 Wiley Cancer Research Genetics http://dx.doi.org/10.1002/gcc.22814 <jats:title>Abstract</jats:title><jats:p>We report a primary renal synovial sarcoma with a novel gene fusion and unusual morphology. The patient was a 35‐year‐old female who was found to have a 5 cm hypocellular, myxoid spindle cell renal neoplasm that subtly permeated amongst native renal tubules. The tumor cells showed elongated hyperchromatic nuclei with ill‐defined pale cytoplasm, lacking significant mitotic activity or necrosis. Based on its deceptively bland morphology, the differential diagnosis included mainly benign entities, such as metanephric stromal tumor, mixed epithelial stromal tumor (MEST), and myxoid peripheral nerve sheath tumors. A definitive diagnosis of synovial sarcoma was made only subsequently to RNA‐sequencing, which revealed a novel <jats:italic>SS18‐NEDD4</jats:italic> gene fusion. These results were further confirmed by fluorescence in situ hybridization using custom design break‐apart probes for both genes. This case illustrates the utility of targeted RNA‐sequencing in the classification of challenging tumors with deceptive morphology and identification of novel gene fusion variants. Apart from the canonical <jats:italic>SS18‐SSX</jats:italic> fusion, this is only the second alternative gene fusion variant described in synovial sarcoma to date, in addition to two cases harboring the <jats:italic>SS18L1‐SSX1</jats:italic> fusion.</jats:p> Novel <i>SS18‐NEDD4</i> gene fusion in a primary renal synovial sarcoma Genes, Chromosomes and Cancer |
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| title |
Novel SS18‐NEDD4 gene fusion in a primary renal synovial sarcoma |
| title_unstemmed |
Novel SS18‐NEDD4 gene fusion in a primary renal synovial sarcoma |
| title_full |
Novel SS18‐NEDD4 gene fusion in a primary renal synovial sarcoma |
| title_fullStr |
Novel SS18‐NEDD4 gene fusion in a primary renal synovial sarcoma |
| title_full_unstemmed |
Novel SS18‐NEDD4 gene fusion in a primary renal synovial sarcoma |
| title_short |
Novel SS18‐NEDD4 gene fusion in a primary renal synovial sarcoma |
| title_sort |
novel <i>ss18‐nedd4</i> gene fusion in a primary renal synovial sarcoma |
| topic |
Cancer Research Genetics |
| url |
http://dx.doi.org/10.1002/gcc.22814 |
| publishDate |
2020 |
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203-208 |
| description |
<jats:title>Abstract</jats:title><jats:p>We report a primary renal synovial sarcoma with a novel gene fusion and unusual morphology. The patient was a 35‐year‐old female who was found to have a 5 cm hypocellular, myxoid spindle cell renal neoplasm that subtly permeated amongst native renal tubules. The tumor cells showed elongated hyperchromatic nuclei with ill‐defined pale cytoplasm, lacking significant mitotic activity or necrosis. Based on its deceptively bland morphology, the differential diagnosis included mainly benign entities, such as metanephric stromal tumor, mixed epithelial stromal tumor (MEST), and myxoid peripheral nerve sheath tumors. A definitive diagnosis of synovial sarcoma was made only subsequently to RNA‐sequencing, which revealed a novel <jats:italic>SS18‐NEDD4</jats:italic> gene fusion. These results were further confirmed by fluorescence in situ hybridization using custom design break‐apart probes for both genes. This case illustrates the utility of targeted RNA‐sequencing in the classification of challenging tumors with deceptive morphology and identification of novel gene fusion variants. Apart from the canonical <jats:italic>SS18‐SSX</jats:italic> fusion, this is only the second alternative gene fusion variant described in synovial sarcoma to date, in addition to two cases harboring the <jats:italic>SS18L1‐SSX1</jats:italic> fusion.</jats:p> |
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| author | Argani, Pedram, Zhang, Lei, Sung, Yun‐Shao, Bacchi, Carlos, Swanson, David, Dickson, Brendan C., Antonescu, Cristina R. |
| author_facet | Argani, Pedram, Zhang, Lei, Sung, Yun‐Shao, Bacchi, Carlos, Swanson, David, Dickson, Brendan C., Antonescu, Cristina R., Argani, Pedram, Zhang, Lei, Sung, Yun‐Shao, Bacchi, Carlos, Swanson, David, Dickson, Brendan C., Antonescu, Cristina R. |
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| description | <jats:title>Abstract</jats:title><jats:p>We report a primary renal synovial sarcoma with a novel gene fusion and unusual morphology. The patient was a 35‐year‐old female who was found to have a 5 cm hypocellular, myxoid spindle cell renal neoplasm that subtly permeated amongst native renal tubules. The tumor cells showed elongated hyperchromatic nuclei with ill‐defined pale cytoplasm, lacking significant mitotic activity or necrosis. Based on its deceptively bland morphology, the differential diagnosis included mainly benign entities, such as metanephric stromal tumor, mixed epithelial stromal tumor (MEST), and myxoid peripheral nerve sheath tumors. A definitive diagnosis of synovial sarcoma was made only subsequently to RNA‐sequencing, which revealed a novel <jats:italic>SS18‐NEDD4</jats:italic> gene fusion. These results were further confirmed by fluorescence in situ hybridization using custom design break‐apart probes for both genes. This case illustrates the utility of targeted RNA‐sequencing in the classification of challenging tumors with deceptive morphology and identification of novel gene fusion variants. Apart from the canonical <jats:italic>SS18‐SSX</jats:italic> fusion, this is only the second alternative gene fusion variant described in synovial sarcoma to date, in addition to two cases harboring the <jats:italic>SS18L1‐SSX1</jats:italic> fusion.</jats:p> |
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| spelling | Argani, Pedram Zhang, Lei Sung, Yun‐Shao Bacchi, Carlos Swanson, David Dickson, Brendan C. Antonescu, Cristina R. 1045-2257 1098-2264 Wiley Cancer Research Genetics http://dx.doi.org/10.1002/gcc.22814 <jats:title>Abstract</jats:title><jats:p>We report a primary renal synovial sarcoma with a novel gene fusion and unusual morphology. The patient was a 35‐year‐old female who was found to have a 5 cm hypocellular, myxoid spindle cell renal neoplasm that subtly permeated amongst native renal tubules. The tumor cells showed elongated hyperchromatic nuclei with ill‐defined pale cytoplasm, lacking significant mitotic activity or necrosis. Based on its deceptively bland morphology, the differential diagnosis included mainly benign entities, such as metanephric stromal tumor, mixed epithelial stromal tumor (MEST), and myxoid peripheral nerve sheath tumors. A definitive diagnosis of synovial sarcoma was made only subsequently to RNA‐sequencing, which revealed a novel <jats:italic>SS18‐NEDD4</jats:italic> gene fusion. These results were further confirmed by fluorescence in situ hybridization using custom design break‐apart probes for both genes. This case illustrates the utility of targeted RNA‐sequencing in the classification of challenging tumors with deceptive morphology and identification of novel gene fusion variants. Apart from the canonical <jats:italic>SS18‐SSX</jats:italic> fusion, this is only the second alternative gene fusion variant described in synovial sarcoma to date, in addition to two cases harboring the <jats:italic>SS18L1‐SSX1</jats:italic> fusion.</jats:p> Novel <i>SS18‐NEDD4</i> gene fusion in a primary renal synovial sarcoma Genes, Chromosomes and Cancer |
| spellingShingle | Argani, Pedram, Zhang, Lei, Sung, Yun‐Shao, Bacchi, Carlos, Swanson, David, Dickson, Brendan C., Antonescu, Cristina R., Genes, Chromosomes and Cancer, Novel SS18‐NEDD4 gene fusion in a primary renal synovial sarcoma, Cancer Research, Genetics |
| title | Novel SS18‐NEDD4 gene fusion in a primary renal synovial sarcoma |
| title_full | Novel SS18‐NEDD4 gene fusion in a primary renal synovial sarcoma |
| title_fullStr | Novel SS18‐NEDD4 gene fusion in a primary renal synovial sarcoma |
| title_full_unstemmed | Novel SS18‐NEDD4 gene fusion in a primary renal synovial sarcoma |
| title_short | Novel SS18‐NEDD4 gene fusion in a primary renal synovial sarcoma |
| title_sort | novel <i>ss18‐nedd4</i> gene fusion in a primary renal synovial sarcoma |
| title_unstemmed | Novel SS18‐NEDD4 gene fusion in a primary renal synovial sarcoma |
| topic | Cancer Research, Genetics |
| url | http://dx.doi.org/10.1002/gcc.22814 |