Lipomatous Solitary Fibrous Tumors Harbor Rare NAB2-STAT6 Fusion Variants and Show Up-Regulation of the Gene PPARG, Encoding for a Regulator of Adipocyte Differentiation
Copyright © 2021 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved..
Solitary fibrous tumors (SFTs) harbor activating NAB2-STAT6 gene fusions. Different variants of the NAB2-STAT6 gene fusion have been associated with distinct clinicopathologic features. Lipomatous SFTs are a morphologic variant of SFTs, characterized by a fat-forming tumor component. Our aim was to evaluate NAB2-STAT6 fusion variants and to further study the molecular genetic features in a cohort of lipomatous SFTs. A hybrid-capture-based next-generation sequencing panel was employed to detect NAB2-STAT6 gene fusions at the RNA level. In addition, the RNA expression levels of 507 genes were evaluated using this panel, and were compared with a control cohort of nonlipomatous SFTs. Notably, 5 of 11 (45%) of lipomatous SFTs in the current series harbored the uncommon NAB2 exon 4-STAT6 exon 4 gene fusion variant, which is observed in only 0.9% to 1.4% of nonlipomatous SFTs. Furthermore, lipomatous SFTs displayed significant differences in gene expression compared with their nonlipomatous counterparts, including up-regulation of the gene peroxisome proliferator activated receptor-γ (PPARG). Peroxisome proliferator activated receptor-γ is a nuclear receptor regulating adipocyte differentiation, providing a possible explanation for the fat-forming component in lipomatous SFTs. In summary, the current study provides a possible molecular genetic basis for the distinct morphologic features of lipomatous SFTs.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:191 |
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| Enthalten in: |
The American journal of pathology - 191(2021), 7 vom: 01. Juli, Seite 1314-1324 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Haller, Florian [VerfasserIn] |
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| Links: |
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| Themen: |
Journal Article |
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| Anmerkungen: |
Date Completed 26.07.2021 Date Revised 26.07.2021 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.ajpath.2021.03.012 |
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| PPN (Katalog-ID): |
NLM324411871 |
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| 245 | 1 | 0 | |a Lipomatous Solitary Fibrous Tumors Harbor Rare NAB2-STAT6 Fusion Variants and Show Up-Regulation of the Gene PPARG, Encoding for a Regulator of Adipocyte Differentiation |
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| 520 | |a Copyright © 2021 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved. | ||
| 520 | |a Solitary fibrous tumors (SFTs) harbor activating NAB2-STAT6 gene fusions. Different variants of the NAB2-STAT6 gene fusion have been associated with distinct clinicopathologic features. Lipomatous SFTs are a morphologic variant of SFTs, characterized by a fat-forming tumor component. Our aim was to evaluate NAB2-STAT6 fusion variants and to further study the molecular genetic features in a cohort of lipomatous SFTs. A hybrid-capture-based next-generation sequencing panel was employed to detect NAB2-STAT6 gene fusions at the RNA level. In addition, the RNA expression levels of 507 genes were evaluated using this panel, and were compared with a control cohort of nonlipomatous SFTs. Notably, 5 of 11 (45%) of lipomatous SFTs in the current series harbored the uncommon NAB2 exon 4-STAT6 exon 4 gene fusion variant, which is observed in only 0.9% to 1.4% of nonlipomatous SFTs. Furthermore, lipomatous SFTs displayed significant differences in gene expression compared with their nonlipomatous counterparts, including up-regulation of the gene peroxisome proliferator activated receptor-γ (PPARG). Peroxisome proliferator activated receptor-γ is a nuclear receptor regulating adipocyte differentiation, providing a possible explanation for the fat-forming component in lipomatous SFTs. In summary, the current study provides a possible molecular genetic basis for the distinct morphologic features of lipomatous SFTs | ||
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| 650 | 7 | |a PPARG protein, human |2 NLM | |
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| 700 | 1 | |a Schlieben, Lea D |e verfasserin |4 aut | |
| 700 | 1 | |a Ferrazzi, Fulvia |e verfasserin |4 aut | |
| 700 | 1 | |a Michal, Michael |e verfasserin |4 aut | |
| 700 | 1 | |a Stöhr, Robert |e verfasserin |4 aut | |
| 700 | 1 | |a Moskalev, Evgeny A |e verfasserin |4 aut | |
| 700 | 1 | |a Bieg, Matthias |e verfasserin |4 aut | |
| 700 | 1 | |a Bovée, Judith V M G |e verfasserin |4 aut | |
| 700 | 1 | |a Ströbel, Philip |e verfasserin |4 aut | |
| 700 | 1 | |a Ishaque, Naveed |e verfasserin |4 aut | |
| 700 | 1 | |a Grützmann, Robert |e verfasserin |4 aut | |
| 700 | 1 | |a Meidenbauer, Norbert |e verfasserin |4 aut | |
| 700 | 1 | |a Eils, Roland |e verfasserin |4 aut | |
| 700 | 1 | |a Wiemann, Stefan |e verfasserin |4 aut | |
| 700 | 1 | |a Hartmann, Arndt |e verfasserin |4 aut | |
| 700 | 1 | |a Michal, Michal |e verfasserin |4 aut | |
| 700 | 1 | |a Agaimy, Abbas |e verfasserin |4 aut | |
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