POU5F1 gene fusion
© 2022 The Authors. Genes, Chromosomes and Cancer published by Wiley Periodicals LLC..
POU5F1 gene fusion. The patient was a 38 year-old male diagnosed with a 5 cm renal tumor which invaded the adrenal gland and extended into the renal vein. Microscopically, the neoplasm had a predominantly undifferentiated round cell morphology, with areas of rhabdoid and spindle cell growth. Similar to the previously reported cases with this fusion, by immunohistochemistry the neoplasm expressed S100 protein and epithelial markers (diffuse EMA, focal cytokeratin), suggesting the possibility of a myoepithelial phenotype. This report documents another example of a fusion-positive undifferentiated soft tissue sarcoma occurring as a primary renal neoplasm, adding to the already broad list of such entities. It highlights the crucial role of molecular analysis in establishing a specific diagnosis given the overlapping morphology and immunophenotypes such entities may exhibit.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2022 |
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| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:61 |
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| Enthalten in: |
Genes, chromosomes & cancer - 61(2022), 9 vom: 18. Sept., Seite 572-577 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Argani, Pedram [VerfasserIn] |
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| Links: |
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| Anmerkungen: |
Date Completed 12.07.2022 Date Revised 15.10.2022 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1002/gcc.23053 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM340502495 |
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| 100 | 1 | |a Argani, Pedram |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Primary renal sarcoma with SS18::POU5F1 gene fusion |
| 264 | 1 | |c 2022 | |
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| 500 | |a Date Completed 12.07.2022 | ||
| 500 | |a Date Revised 15.10.2022 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2022 The Authors. Genes, Chromosomes and Cancer published by Wiley Periodicals LLC. | ||
| 520 | |a We report the first case of a primary renal undifferentiated sarcoma harboring an SS18::POU5F1 gene fusion. The patient was a 38 year-old male diagnosed with a 5 cm renal tumor which invaded the adrenal gland and extended into the renal vein. Microscopically, the neoplasm had a predominantly undifferentiated round cell morphology, with areas of rhabdoid and spindle cell growth. Similar to the previously reported cases with this fusion, by immunohistochemistry the neoplasm expressed S100 protein and epithelial markers (diffuse EMA, focal cytokeratin), suggesting the possibility of a myoepithelial phenotype. This report documents another example of a fusion-positive undifferentiated soft tissue sarcoma occurring as a primary renal neoplasm, adding to the already broad list of such entities. It highlights the crucial role of molecular analysis in establishing a specific diagnosis given the overlapping morphology and immunophenotypes such entities may exhibit | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, N.I.H., Extramural | |
| 650 | 4 | |a SS18::POU5F1 | |
| 650 | 4 | |a renal | |
| 650 | 4 | |a sarcoma | |
| 650 | 7 | |a Biomarkers, Tumor |2 NLM | |
| 650 | 7 | |a Octamer Transcription Factor-3 |2 NLM | |
| 650 | 7 | |a Oncogene Proteins, Fusion |2 NLM | |
| 650 | 7 | |a POU5F1 protein, human |2 NLM | |
| 650 | 7 | |a Proto-Oncogene Proteins |2 NLM | |
| 700 | 1 | |a Matoso, Andres |e verfasserin |4 aut | |
| 700 | 1 | |a Gross, John M |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, Yanming |e verfasserin |4 aut | |
| 700 | 1 | |a SoRelle, Jeffrey A |e verfasserin |4 aut | |
| 700 | 1 | |a Gagan, Jeffrey |e verfasserin |4 aut | |
| 700 | 1 | |a Antonescu, Cristina R |e verfasserin |4 aut | |
| 700 | 1 | |a Palsgrove, Doreen |e verfasserin |4 aut | |
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| 773 | 1 | 8 | |g volume:61 |g year:2022 |g number:9 |g day:18 |g month:09 |g pages:572-577 |
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