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A molecular study of synovial chondromatosis
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| Zeitschriftentitel: | Genes, Chromosomes and Cancer |
|---|---|
| Personen und Körperschaften: | , , , , , , , , |
| In: | Genes, Chromosomes and Cancer, 59, 2020, 3, S. 144-151 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
|
| Schlagwörter: |
| author_facet |
Agaram, Narasimhan P. Zhang, Lei Dickson, Brendan C. Swanson, David Sung, Yun‐Shao Panicek, David M. Hameed, Meera Healey, John H. Antonescu, Cristina R. Agaram, Narasimhan P. Zhang, Lei Dickson, Brendan C. Swanson, David Sung, Yun‐Shao Panicek, David M. Hameed, Meera Healey, John H. Antonescu, Cristina R. |
|---|---|
| author |
Agaram, Narasimhan P. Zhang, Lei Dickson, Brendan C. Swanson, David Sung, Yun‐Shao Panicek, David M. Hameed, Meera Healey, John H. Antonescu, Cristina R. |
| spellingShingle |
Agaram, Narasimhan P. Zhang, Lei Dickson, Brendan C. Swanson, David Sung, Yun‐Shao Panicek, David M. Hameed, Meera Healey, John H. Antonescu, Cristina R. Genes, Chromosomes and Cancer A molecular study of synovial chondromatosis Cancer Research Genetics |
| author_sort |
agaram, narasimhan p. |
| spelling |
Agaram, Narasimhan P. Zhang, Lei Dickson, Brendan C. Swanson, David Sung, Yun‐Shao Panicek, David M. Hameed, Meera Healey, John H. Antonescu, Cristina R. 1045-2257 1098-2264 Wiley Cancer Research Genetics http://dx.doi.org/10.1002/gcc.22812 <jats:title>Abstract</jats:title><jats:p>Synovial chondromatosis (SC) is a rare benign cartilaginous neoplasm in which recurrent fibronectin 1 (<jats:italic>FN1</jats:italic>) and activin receptor 2A (<jats:italic>ACVR2A</jats:italic>) gene rearrangements have been recently reported. Triggered by a case of malignant transformation in SC (synovial chondrosarcoma) showing a novel <jats:italic>KMT2A</jats:italic>‐<jats:italic>BCOR</jats:italic> gene fusion by targeted RNA sequencing, we sought to evaluate the molecular abnormalities in a cohort of 27 SC cases using a combined methodology of fluorescence in situ hybridization (FISH) and/or targeted RNA sequencing. Results showed that <jats:italic>FN1</jats:italic> and /or <jats:italic>ACVR2A</jats:italic> gene rearrangements were noted in 18 cases (67%), with an <jats:italic>FN1‐ACVR2A</jats:italic> fusion being confirmed in 15 (56%) cases. Two cases showed only <jats:italic>FN1</jats:italic> gene rearrangement, without other abnormalities. A novel <jats:italic>FN1‐NFATc2</jats:italic> gene fusion was noted in one case by RNA sequencing. The remaining nine cases showed no abnormalities in <jats:italic>FN1</jats:italic> and <jats:italic>ACVR2A</jats:italic> genes. No additional cases showed <jats:italic>BCOR</jats:italic> gene alterations. In conclusion, this study confirms that <jats:italic>FN1</jats:italic>‐<jats:italic>ACVR2A</jats:italic> fusion is the leading pathogenetic event in SC, at even higher frequency than previously reported. FISH methodology emerges as an appropriate tool in the identification of <jats:italic>FN1</jats:italic> and <jats:italic>ACVR2A</jats:italic> gene abnormalities, which can be used in challenging cases. Further studies are needed to determine the recurrent potential of <jats:italic>BCOR</jats:italic> abnormalities in this disease.</jats:p> A molecular study of synovial chondromatosis Genes, Chromosomes and Cancer |
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| title |
A molecular study of synovial chondromatosis |
| title_unstemmed |
A molecular study of synovial chondromatosis |
| title_full |
A molecular study of synovial chondromatosis |
| title_fullStr |
A molecular study of synovial chondromatosis |
| title_full_unstemmed |
A molecular study of synovial chondromatosis |
| title_short |
A molecular study of synovial chondromatosis |
| title_sort |
a molecular study of synovial chondromatosis |
| topic |
Cancer Research Genetics |
| url |
http://dx.doi.org/10.1002/gcc.22812 |
| publishDate |
2020 |
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144-151 |
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<jats:title>Abstract</jats:title><jats:p>Synovial chondromatosis (SC) is a rare benign cartilaginous neoplasm in which recurrent fibronectin 1 (<jats:italic>FN1</jats:italic>) and activin receptor 2A (<jats:italic>ACVR2A</jats:italic>) gene rearrangements have been recently reported. Triggered by a case of malignant transformation in SC (synovial chondrosarcoma) showing a novel <jats:italic>KMT2A</jats:italic>‐<jats:italic>BCOR</jats:italic> gene fusion by targeted RNA sequencing, we sought to evaluate the molecular abnormalities in a cohort of 27 SC cases using a combined methodology of fluorescence in situ hybridization (FISH) and/or targeted RNA sequencing. Results showed that <jats:italic>FN1</jats:italic> and /or <jats:italic>ACVR2A</jats:italic> gene rearrangements were noted in 18 cases (67%), with an <jats:italic>FN1‐ACVR2A</jats:italic> fusion being confirmed in 15 (56%) cases. Two cases showed only <jats:italic>FN1</jats:italic> gene rearrangement, without other abnormalities. A novel <jats:italic>FN1‐NFATc2</jats:italic> gene fusion was noted in one case by RNA sequencing. The remaining nine cases showed no abnormalities in <jats:italic>FN1</jats:italic> and <jats:italic>ACVR2A</jats:italic> genes. No additional cases showed <jats:italic>BCOR</jats:italic> gene alterations. In conclusion, this study confirms that <jats:italic>FN1</jats:italic>‐<jats:italic>ACVR2A</jats:italic> fusion is the leading pathogenetic event in SC, at even higher frequency than previously reported. FISH methodology emerges as an appropriate tool in the identification of <jats:italic>FN1</jats:italic> and <jats:italic>ACVR2A</jats:italic> gene abnormalities, which can be used in challenging cases. Further studies are needed to determine the recurrent potential of <jats:italic>BCOR</jats:italic> abnormalities in this disease.</jats:p> |
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| author | Agaram, Narasimhan P., Zhang, Lei, Dickson, Brendan C., Swanson, David, Sung, Yun‐Shao, Panicek, David M., Hameed, Meera, Healey, John H., Antonescu, Cristina R. |
| author_facet | Agaram, Narasimhan P., Zhang, Lei, Dickson, Brendan C., Swanson, David, Sung, Yun‐Shao, Panicek, David M., Hameed, Meera, Healey, John H., Antonescu, Cristina R., Agaram, Narasimhan P., Zhang, Lei, Dickson, Brendan C., Swanson, David, Sung, Yun‐Shao, Panicek, David M., Hameed, Meera, Healey, John H., Antonescu, Cristina R. |
| author_sort | agaram, narasimhan p. |
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| description | <jats:title>Abstract</jats:title><jats:p>Synovial chondromatosis (SC) is a rare benign cartilaginous neoplasm in which recurrent fibronectin 1 (<jats:italic>FN1</jats:italic>) and activin receptor 2A (<jats:italic>ACVR2A</jats:italic>) gene rearrangements have been recently reported. Triggered by a case of malignant transformation in SC (synovial chondrosarcoma) showing a novel <jats:italic>KMT2A</jats:italic>‐<jats:italic>BCOR</jats:italic> gene fusion by targeted RNA sequencing, we sought to evaluate the molecular abnormalities in a cohort of 27 SC cases using a combined methodology of fluorescence in situ hybridization (FISH) and/or targeted RNA sequencing. Results showed that <jats:italic>FN1</jats:italic> and /or <jats:italic>ACVR2A</jats:italic> gene rearrangements were noted in 18 cases (67%), with an <jats:italic>FN1‐ACVR2A</jats:italic> fusion being confirmed in 15 (56%) cases. Two cases showed only <jats:italic>FN1</jats:italic> gene rearrangement, without other abnormalities. A novel <jats:italic>FN1‐NFATc2</jats:italic> gene fusion was noted in one case by RNA sequencing. The remaining nine cases showed no abnormalities in <jats:italic>FN1</jats:italic> and <jats:italic>ACVR2A</jats:italic> genes. No additional cases showed <jats:italic>BCOR</jats:italic> gene alterations. In conclusion, this study confirms that <jats:italic>FN1</jats:italic>‐<jats:italic>ACVR2A</jats:italic> fusion is the leading pathogenetic event in SC, at even higher frequency than previously reported. FISH methodology emerges as an appropriate tool in the identification of <jats:italic>FN1</jats:italic> and <jats:italic>ACVR2A</jats:italic> gene abnormalities, which can be used in challenging cases. Further studies are needed to determine the recurrent potential of <jats:italic>BCOR</jats:italic> abnormalities in this disease.</jats:p> |
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| spelling | Agaram, Narasimhan P. Zhang, Lei Dickson, Brendan C. Swanson, David Sung, Yun‐Shao Panicek, David M. Hameed, Meera Healey, John H. Antonescu, Cristina R. 1045-2257 1098-2264 Wiley Cancer Research Genetics http://dx.doi.org/10.1002/gcc.22812 <jats:title>Abstract</jats:title><jats:p>Synovial chondromatosis (SC) is a rare benign cartilaginous neoplasm in which recurrent fibronectin 1 (<jats:italic>FN1</jats:italic>) and activin receptor 2A (<jats:italic>ACVR2A</jats:italic>) gene rearrangements have been recently reported. Triggered by a case of malignant transformation in SC (synovial chondrosarcoma) showing a novel <jats:italic>KMT2A</jats:italic>‐<jats:italic>BCOR</jats:italic> gene fusion by targeted RNA sequencing, we sought to evaluate the molecular abnormalities in a cohort of 27 SC cases using a combined methodology of fluorescence in situ hybridization (FISH) and/or targeted RNA sequencing. Results showed that <jats:italic>FN1</jats:italic> and /or <jats:italic>ACVR2A</jats:italic> gene rearrangements were noted in 18 cases (67%), with an <jats:italic>FN1‐ACVR2A</jats:italic> fusion being confirmed in 15 (56%) cases. Two cases showed only <jats:italic>FN1</jats:italic> gene rearrangement, without other abnormalities. A novel <jats:italic>FN1‐NFATc2</jats:italic> gene fusion was noted in one case by RNA sequencing. The remaining nine cases showed no abnormalities in <jats:italic>FN1</jats:italic> and <jats:italic>ACVR2A</jats:italic> genes. No additional cases showed <jats:italic>BCOR</jats:italic> gene alterations. In conclusion, this study confirms that <jats:italic>FN1</jats:italic>‐<jats:italic>ACVR2A</jats:italic> fusion is the leading pathogenetic event in SC, at even higher frequency than previously reported. FISH methodology emerges as an appropriate tool in the identification of <jats:italic>FN1</jats:italic> and <jats:italic>ACVR2A</jats:italic> gene abnormalities, which can be used in challenging cases. Further studies are needed to determine the recurrent potential of <jats:italic>BCOR</jats:italic> abnormalities in this disease.</jats:p> A molecular study of synovial chondromatosis Genes, Chromosomes and Cancer |
| spellingShingle | Agaram, Narasimhan P., Zhang, Lei, Dickson, Brendan C., Swanson, David, Sung, Yun‐Shao, Panicek, David M., Hameed, Meera, Healey, John H., Antonescu, Cristina R., Genes, Chromosomes and Cancer, A molecular study of synovial chondromatosis, Cancer Research, Genetics |
| title | A molecular study of synovial chondromatosis |
| title_full | A molecular study of synovial chondromatosis |
| title_fullStr | A molecular study of synovial chondromatosis |
| title_full_unstemmed | A molecular study of synovial chondromatosis |
| title_short | A molecular study of synovial chondromatosis |
| title_sort | a molecular study of synovial chondromatosis |
| title_unstemmed | A molecular study of synovial chondromatosis |
| topic | Cancer Research, Genetics |
| url | http://dx.doi.org/10.1002/gcc.22812 |